Order Code RL32478
CRS Report for Congress
Received through the CRS Web
Genetic Testing: Scientific Background and
Updated March 21, 2005
Specialist in Genetics
Domestic Social Policy Division
Erin D. Williams
Specialist in Bioethical Policy
Domestic Social Policy Division
Congressional Research Service ˜ The Library of Congress
Genetic Testing: Scientific Background and
Issues surrounding genetic discrimination and privacy in health insurance and
employment are currently being debated in the109th Congress. On February 7, 2005,
Senator Snowe introduced S. 306, the Genetic Information Nondiscrimination Act
of 2005. The Senate passed S. 306 on February 17, 2005 by a vote of 98-0. On
March 10, 2005, Representatives Biggert, Slaughter, Ney, and Eshoo introduced an
identical bill, H.R. 1227, in the House. S. 306 is identical to S. 1053 introduced in
the 108th Congress, which the Senate passed in 2003 by a vote of 95-0. A House bill,
H.R. 1910, did not come to a vote in before the conclusion of the 108th Congress.
This report provides a comprehensive overview of the status of genetic testing in the
United States. The discussion focuses on the key points in the ongoing debate facing
the 109th as S. 306 and H.R. 1227 are considered.
S. 306 / H.R. 1227 are supported by consumer groups, the medical profession,
researchers, the medical products industry (including pharmaceutical companies), and
President Bush, and are opposed primarily by the U.S. Chamber of Commerce. Since
the first bills were introduced in the 103rd Congress, many of the arguments and
positions supporting and opposing genetic nondiscrimination legislation have
remained largely unchanged. Supporters of nondiscrimination legislation feel that
current laws are not sufficient to protect individuals from discrimination in health
insurance or employment. Further, without protection, individuals are hesitant to
seek potentially beneficial genetic services or participate in much needed clinical
research. At this stage of debate, opponents believe that current laws provide
sufficient protection. They are primarily concerned that new legislation will provide
further incentives and additional opportunities for litigation against employers.
Collectively, genetic diseases and common diseases with a genetic component
pose a significant public health burden. With completion of the human genome
sequence, scientists will now focus on understanding the clinical implications of the
sequence information. Clinical genetic tests are becoming available at a rapid rate.
Testing is regulated by the federal government and tests are beginning to be included
in health insurance benefits packages. Issues surrounding genetic testing and
nondiscrimination addressed in this report include:
What is health information and how is it currently used by health
insurers and employers?
What is genetic information?
Is genetic information different from other health information?
What are the implications of having genetic information: for the
individual undergoing testing? for his/her family? for society?
What evidence exists to suggest that discrimination is a problem?
Will the proposed legislation have been sufficient to protect “genetic
information” and “genetic tests” that are of concern?
How does the proposed legislation compare with existing laws and
regulations governing discrimination?
Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1
Status of Genetic Testing in the United States . . . . . . . . . . . . . . . . . . . . . . . . 3
Public Health Significance of Genetic Conditions . . . . . . . . . . . . . . . . 3
Human Genome Project Update . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 4
Fundamental Concepts in Genetics . . . . . . . . . . . . . . . . . . . . . . . . . . . . 5
Genetic Tests Are Available . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 10
Genetic Tests Are Regulated by the Federal Government . . . . . . . . . . 10
Some Clinical Genetic Tests Are Covered by Health Insurers . . . . . . 11
Health Information . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12
Use of Health Information by Health Insurers . . . . . . . . . . . . . . . . . . . . . . . 12
Use of Health Information by Employers . . . . . . . . . . . . . . . . . . . . . . . . . . 13
What Is Genetic Information? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14
The Genetic Test Result . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 14
Family History . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15
Is Genetic Information Different from Other Medical Information? . . . . . 15
Implications of Genetic Information for Individuals . . . . . . . . . . . . . . 16
Implications of Genetic Information for the Family . . . . . . . . . . . . . . 17
Implications of Genetic Information for Society . . . . . . . . . . . . . . . . . 17
What Evidence Is There That Genetic Discrimination Exists? . . . . . . . . . . . . . . 19
Cases of Genetic Discrimination . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 19
Genetic Testing by Employers . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 21
Impact of the Fear of Discrimination on Behavior . . . . . . . . . . . . . . . 24
How Do S. 306 and H.R. 1227 Compare to Existing Law? . . . . . . . . . . . . . . . . 28
How Would the Proposed Legislation Protect “Genetic Information”? . . . . . . . 29
Scope of Coverage: Definition of “Family Members” . . . . . . . . . . . . 33
Title I. Health Insurance . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 33
Mandatory Testing Prohibited . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
Prohibition of Discrimination in Group and Individual Market . . . . . 34
Privacy: Use of Information by Insurers . . . . . . . . . . . . . . . . . . . . . . . 34
Enforcement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
Questions about Title I . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34
Flow of Genetic Information in Health Care Operations . . . . . . . . . . . 34
Privacy Provisions . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35
Impact on Utilization . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35
Minimum Penalty . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 35
Title II. Employment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 36
Mandatory Testing Prohibited . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 36
Discrimination in Employment Practices Prohibited . . . . . . . . . . . . . . 36
Acquisition of Genetic Information by Employers . . . . . . . . . . . . . . . 36
Privacy: Use of Genetic Information by Employers . . . . . . . . . . . . . . 37
Enforcement . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 37
Questions about Title II . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 38
The Group Health Plan and the Employer . . . . . . . . . . . . . . . . . . . . . . 38
Create Incentive for Litigation . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 38
Public vs. Individual Risk . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Sunset Clause . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Separate Medical Files . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 39
Safe Harbor . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40
Glossary of Terms and Acronyms . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41
List of Figures
Figure 1. A Sample Karyotype from a Down Syndrome Patient . . . . . . . . . . . . . 5
Figure 2. DNA Codes for Protein . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 7
List of Tables
Table 1. The Definition of Genetic Test and Genetic Information in Title I
and Title II of S. 306 and H.R. 1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 31
Table 2. Examples of Genetic Testing Scenarios and Protected Information
Under S. 306 and H.R. 1227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 32
Genetic Testing: Scientific Background and
Issues surrounding genetic discrimination and privacy in health insurance and
employment are currently being debated in the109th Congress. On February 7, 2005,
Senator Snowe introduced S. 306, the Genetic Information Nondiscrimination Act
of 2005. The Senate passed S. 306 on February 17, 2005 by a vote of 98-0. On
March 10, 2005, Representatives Biggert, Slaughter, Ney and Eshoo introduced an
identical bill, H.R. 1227, in the House.
S. 306 is also identical to S. 1053 introduced in the 108th Congress, which
passed the Senate on October 14, 2003 by a vote of 95-0.1 A House bill, H.R. 1910,
did not come to a vote in before the conclusion of the 108th Congress. S. 306 and
H.R. 1227 prohibit health insurance plans from denying enrollment or charging
higher premiums to individuals based on the individual’s or family member’s genetic
information. In addition, they contain privacy provisions prohibiting certain uses and
disclosures of genetic information as well as prohibiting the collection of genetic
information for insurance underwriting purposes. S. 306 and H.R. 1227 also prohibit
discrimination in employment because of genetic information and, with certain
exceptions, prohibit an employer from requesting, requiring, or purchasing genetic
information. If such information is obtained, the bills require that it be treated as part
of a confidential medical record. There are detailed provisions on enforcement which
generally apply the remedies available in existing civil rights laws such as Title VII
of the Civil Rights Act of 1964, 42 U.S.C. § 2000e-4 et seq.
Genetic nondiscrimination legislation has been debated since the 103rd
Congress.2 Since that time, many of the arguments and positions supporting and
opposing genetic nondiscrimination legislation have remained largely unchanged.
President Bush has indicated his support for bipartisan genetic nondiscrimination
legislation.3 Genetic nondiscrimination legislation is supported by consumer groups,
149 Cong. Rec. S12394-12508 (daily ed. Oct. 4, 2003).
U.S. Congress, Senate Committee on Health, Education, Labor, and Pensions, Genetic
Information Nondiscrimination Act of 2003, report to accompany S. 1053, 108th Cong., 1st
sess., S.Rept. 108-122, Genetic Information Nondiscrimination Act 2003 (Washington,
GPO, 2003), pp.12-15. CRS Report RL30006, Genetic Information: Legal Issues Related
to Discrimination and Privacy, by Nancy Lee Jones and Alison M. Smith. (Hereafter cited
as CRS Report RL30006, Genetic Information.)
Executive Office of the President, Office of Management and Budget, “Statement of
Administrative Policy: S. 306 — Genetic Information Nondiscrimination Act of 2005,” Feb.
the medical profession, researchers and the medical products industry (including
pharmaceutical companies). Supporters argue that current laws are not clear on
protection from discrimination based on genetic information. Despite the fact that
few cases of genetic discrimination can be documented, proponents believe that new
legislation is needed to allay the fears of individuals about the potential for
discriminatory practices so that they can seek beneficial health services, participate
in much-needed clinical research, and otherwise reap the benefits of the publically
funded Human Genome Project (HGP). New technologies and applications derived
from the HGP will make more information available, and the potential for
discrimination more real.
Opposition to genetic nondiscrimination legislation continues to come from
some members of the insurance industry and the Genetic Information
Nondiscrimination in Employment (GINE) Coalition,4 which includes the U.S.
Chamber of Commerce. The insurance industry argues that current laws are
sufficient to protect individuals from discrimination based on genetic information
and that additional regulation will be confusing, unnecessary and costly. Insurers
argue that it is unfair to prohibit them from acquiring genetic information when they
already use other health information. Some groups, such as the American
Association of Health Plans, support the premise of federal nondiscrimination
legislation and have indicated support for legislation that is consistent with their
principles.5 However, many would further limit the definition of genetic
information.6 One additional bill introduced in the 108th Congress (H.R. 3636) would
have prohibited health insurers from discrimination based on predictive genetic
information but would not have affected employers. The bill had no cosponsors, and
many consumer groups indicated that they would not support nondiscrimination
legislation without both insurance and employment provisions.
16, 2005 at
Accessed Mar. 14, 2004.
The GINE Coalition is a business coalition of trade associations, professional
organizations, individual companies and their representatives. In addition to the U.S.
Chamber of Commerce, the coalition includes the Society for Human Resource Management
(SHRM), the National Association of Manufacturers (NAM), the National Federation of
Independent Business (NFIB) and the College & University Professional Association for
Human Resources (CUPA-HR), among others. The exclusive focus of the GINE Coalition
is the issue of genetic non-discrimination in employment.
Statement of the American Association of Health Plans Board of Directors, “Health Plan
Principles Guide Policies Toward Genetic Testing and Treatments,” Oct. 15, 2003, press
release. The principles include the protection of all identifiable health information
(including genetic information) from illegal use, prohibition from discrimination in
insurance and employment based on health status, and use of genetic information to improve
the quality of patient care [http://www.ahip.org/content/pressrelease.aspx?docid=168].
Accessed Mar. 14, 2005.
National Association of Health Underwriters, Position on Genetic Testing, 2003. Online
Accessed Mar. 14, 2005.
Some employers have questioned whether legislation is necessary because there
are few documented cases of discrimination based on genetic information, and there
is no evidence that they would use the information if they had it. Randy Johnson,
vice president of the Chamber of Commerce’s office of labor policy, believes that if
the legislation were to pass, it should be narrowed to acknowledge that employers
should be able to make employment decisions based on information that some
workers with specified genetic markers could pose a “significant risk to others.”7
Other business coalition members believe the definition of “family member” should
be revised to include only immediate family.
This report provides a comprehensive overview of genetic testing in the United
States and reviews the debate concerning the necessity of new legislation to prohibit
discrimination on the basis of genetics.
Status of Genetic Testing in the United States
Public Health Significance of Genetic Conditions. In a traditional
sense, individual genetic conditions — usually thought to be congenital syndromes
(such as Down syndrome), single gene disorders (such as cystic fibrosis), or
metabolic disorders (such as phenylketonuria) — are rare. However, over 15,500
recognized genetic disorders affect 13 million Americans.8 For example:
20 to 30% of infant deaths are attributed to genetic disorders;9
50% of cases of mental retardation have a genetic basis;10
15% of all cancers have an inherited susceptibility;11 and
10% of adult chronic diseases (such as heart disease, diabetes,
rheumatoid arthritis) have a genetic component.12
Today, few effective interventions exist to prevent or cure genetic conditions.
The short-term benefits of genetic testing lie largely in the information they provide
about risk of future disease and health. The value of genetic information is personal
to individuals, who must make medical and other life decisions for themselves and
their families. The information can affect decisions about reproduction, the types or
amount of health, life, or disability insurance to purchase, or career choices.
David Hess, “Genetic Discrimination Bill Stalls in House,” Congress Daily, Apr. 20, 2004.
V.A. McKusick, Mendelian Inheritance in Man: A Catalog of Human Genetics and
Genetic Disorders, 11th edition (Baltimore: The Johns Hopkins University Press, 1994);
D.S. Borgaonkar, Chromosomal Variation in Man, 7th edition (New York: Wiley-Liss,
R.J. Berry, J.W. Buehler, L.T. Strauss, et al., 1987. Birth Weight-Specific Infant Mortality
Due to Congenital Abnormalities, 1960 and 1980, Public Health Report 102:171-81.
A.W.H. Emery, and D.L. Rimoin, eds., Principles and Practice of Medical Genetics, 2nd
edition (Edinburgh and New York: Churchill Livingston,1990).
K.A. Schneider, Counseling about Cancer: Strategies for Genetic Counselors
(Dennisport, MA: Graphic Illusion, 1994).
D.J. Weatherall, The New Genetics and Clinical Practice, 2nd edition (Oxford: Oxford
University Press, 1985).
Science is only beginning to unlock the complex nature of the interaction
between genes and the environment, and their respective contributions to the disease
process. Each human being possesses a dozen or so potentially lethal genes13 —
some for recessive disorders that may never manifest but may have implications for
offspring, and some for susceptibility to serious illness. Some genes may predispose
individuals to certain traits which, though they may not cause disease, could be
viewed negatively by society (e.g., low average intelligence, moderately aggressive
behavior, mild obesity or chronic conditions). Genetics professionals argue that a
better understanding of genetics, and the opportunity to prevent or mitigate
unhealthful conditions, necessitates that society accept the full continuum of human
biology as part of human variation. This view challenges traditional medical
definitions, which tend to characterize health status in discrete terms of “health and
disease,” “normal and abnormal.”
Human Genome Project Update. The Human Genome Project (HGP)
began in 1991. Phase I was an international initiative to decode the entire human
genetic sequence. In the United States, the effort was a joint effort of the Department
of Health and Human Services (HHS) and the Department of Energy (DOE). The
sequence was completed in April of 2003, two years ahead of schedule. The National
Human Genome Research Institute (NHGRI) supports genetic and genomic research,
investigation into the ethical, legal and social implications surrounding genetics
research, and educational outreach activities in genetics and genomics for HHS. In
FY2004, NHGRI’s budget was $478 million to begin Phase II, which focuses on
continuing genomic research to assess the clinical significance of the sequence data.14
The Genomes to Life (now called the Genomes: GTL) initiative builds on the
DOE’s integral role in the HGP. An integrated and predictive understanding of
biological systems will enable the United States to develop new technologies related
to the detection of biological and chemical agents, energy production, and other DOE
statutory missions.15 The Genomics GTL program began in 2002 and was funded at
$18.7 million. In the 108th Congress, S. 682, the Genomes to Life Research and
Development Act, would have authorized $100 million funding to the DOE in year
2004, gradually increasing to $455 million in 2008 to continue the work of the
program. A similar bill, H.R. 1645, would have specifically established a research,
development, and demonstration program in genetics, protein science, and
computational biology of microbes and plants to support the energy and
environmental mission of the DOE. Neither these bills, nor a more comprehensive
bill, H.R. 6, the Energy Policy Act, were passed in the 108th Congress. However, the
budget for the program was $63.5 million for FY2004.
Statement of Francis Collins, Director, National Center for Human Gene Research, at the
Genetic Alliance press conference at the House of Representatives, Apr. 1, 2004.
F.S. Collins, E.D. Green, A.E. Guttmacher, and M.S. Guyer, “A Vision for the Future of
Genomics Research,” Nature, vol. 422, no. 6934 (Apr. 24, 2003), pp. 835-847.
U.S. Department of Energy, Press Release, “Researchers Funded by the DOE ‘Genomes
to Life’ Program Achieve Important Advance in Developing Biological Strategies to
Produce Hydrogen, Sequester Carbon Dioxide and Clean up the Environment,” Nov. 13,
2004, at [http://www.energy.gov]; and [http://doegenomestolife.org/].
Fundamental Concepts in Genetics. The following section explains key
concepts in genetics that are essential for understanding genetic tests and issues
associated with testing that are of interest to Congress.
Cells Contain Chromosomes. Humans have 23 pairs of chromosomes in
the nucleus of most cells in their bodies. Half of the chromosomes are inherited from
the mother, half from the father. These include 22 pairs of autosomal chromosomes
and one pair of sex chromosomes. Autosomal chromosomes are numbered 1-22 and
are the same in males and females. The two sex chromosomes are called X and Y
by virtue of their condensed shape.16 Many syndromes involving abnormal human
development result from abnormal numbers of chromosomes (called aneuploidy).
The associated conditions or syndromes, such as Down Syndrome, are generally well
characterized clinically and easily diagnosed through standard laboratory analysis,
such as karyotyping (see Figure 1).17
Figure 1. A Sample Karyotype from a Down Syndrome Patient
Figure note: The karyotype shows 47 chromosomes rather than the normal complement of 46. The
presence of the extra chromosome 21, indicated by the arrow, is indicative of Down Syndrome.
Females have two X chromosomes, and males have one X and one Y. Females can pass
only an X chromosome to their children. Males have an equal chance of passing an X or a
Y to the child. The gender of the child, therefore, is determined by the genetic contribution
of the father.
Karyotyping is a method in which chromosomes from dividing cells are treated with a
chemical that arrests division in the metaphase state. In this state, chromosomes are in their
most condensed form. The cells are “squashed” and the chromosomes stained. The stained
chromosomes can then be photographed and arranged by size for further investigation.
Other diseases, such as leukemia, can be caused by breaks and rearrangements
of chromosome pieces with other nonhomologous (i.e., non-matching) chromosomes.
During cell division, errors can occur in chromosome replication. A break that
results in a rearrangement of chromosomal material where no material is lost is
known as a balanced translocation. Other breaks can result in the loss of some
chromosomal material. These are known as unbalanced translocations. Generally,
there is a greater likelihood of morbidity with unbalanced translocations because
there is either a gain or loss of some genetic material.
Within a single chromosome or matched chromosome pair, errors in
chromosome replication can result in some genetic material being duplicated, deleted
or flipped the wrong way (inverted). The extent of morbidity associated with these
phenomena is highly variable.
The ability of karyotyping to diagnose
rearrangements, duplications, deletions or inversions depends on the size of the
alteration. However, molecular techniques are now available that can identify
smaller structural abnormalities with greater precision.
Chromosomes Contain DNA.
Chromosomes are made up of
deoxyribonucleic acid (DNA) and protein. DNA is composed of complex chemical
substances called bases. Combinations of the four bases (adenine (A), guanine (G),
cytosine (C) and thymine (T)) arranged in a helical structure (like a spiral staircase)
in a specific order define an individual’s physical characteristics, susceptibility to
disease and some behavioral characteristics. Chromosomes contain almost 3 billion
base pairs of DNA that code for about 30,000-40,000 genes.
DNA Codes for Protein. Genes are the sequences of DNA that code for
proteins that comprise the structure and carry on the functions of all of the cells in the
human body. The coding regions make up less than 5% of the genome. The function
of the remaining DNA is not clear, but it is thought to have structural and regulatory
function. That is, some of the sequence may code for binding sites for proteins
which, when present in a particular form, can act to turn on or turn off (i.e., stimulate
production or inhibition) another gene or protein in a biochemical cascade.
When signaled to produce a protein, the double-stranded DNA unwinds. An
enzyme called RNA polymerase moves in between the strands, and uses one of the
strands of DNA as a template for making a single stranded piece of RNA in a process
called transcription. The RNA, called “messenger” RNA, carries the genetic
information into the body of the cell, where it attaches to a ribosome. The ribosome
brings together the building blocks for making the protein (amino acids) in a process
called translation. Once attached to the ribosome, another type of RNA called
transfer RNA brings individual amino acids to the ribosome. The amino acids are
chemically bonded together to form the protein. When translation is complete, the
protein falls off of the ribosome, and self-assembles into a three dimensional shape.
Sometimes, the protein structure will undergo additional modifications, such as
binding with other protein structures to make a complex molecule that will perform
a function for the cell.
Figure 2. DNA Codes for
Source: Adapted from “The Central Dogma of Molecular Biology,” Access Excellence
@ the National Health Museum, © 1999, at [http://www.accessexcellence.org/AB/GG/
Because of the way that RNA is transcribed from DNA, then translated into a protein,
the protein, although a different chemical composition than the DNA, reflects the
sequence of the DNA. Thus, variations in the DNA sequence can manifest as
variations in the protein. Some of the variations will alter the protein function. For
example, a mutation may change the DNA code to tell the RNA polymerase to stop
transcribing prematurely. The resulting protein would be too short, and would be
unlikely to function. Normally, a “reading frame” consists of the DNA that is going
be transcribed and translated. The polymerase enzyme reads three bases at a time to
code for each amino acid. A mutation that deletes a base will throw off the reading
frame. The resulting protein may be comprised of a nonsensical — or “mis-sense”
— sequence that has no function. Other mutations may result in a base change that
substitutes one amino acid for another. In this case, the function of the resulting
protein could be almost normal (if the amino acids were very similar in structure) or
could be impaired (if they were different). Some mutations may occur in regulatory
sequences of DNA, which control how much and when a protein is produced.
Genotype Influences Phenotype. Though most of the genome is very
similar between individuals, there can be significant variation in physical appearance
or function between individuals. Genes can have several different forms, called
alleles which account for much of the variation. The specific alleles that are present
on the chromosome pair constitutes the person’s genotype. The actual observable
physical trait is known as the phenotype. For example, having one brown-eye color
allele and one blue eye color allele would be an example of a genotype and brown
eyes would be the phenotype.18
If the alleles are the same, the trait is said to be homozygous. If the alleles are different,
the trait is heterozygous. If an individual is heterozygous for a given trait, sometimes one
Many complex factors affect how a genotype (DNA) translates to a phenotype
(observable trait) in ways that are not yet clear for many traits or conditions. Study
of a person’s genotype may determine if a person has a mutation associated with a
disease, but only observation of the phenotype can determine if that person actually
has physical characteristics or symptoms of the disease. Generally, the risk of
developing symptoms associated with a single mutation or trait can be more easily
assessed because they are inherited in a predictable fashion (also known as
Mendelian inheritance) compared to those associated with either multiple mutations
in multiple genes, or traits or conditions that are acquired over time. Complex
diseases, such as heart disease, cancer, immune disorders, or mental illness, for
example, have both inherited and environmental components that are very difficult
to separate. Thus, it can be difficult to determine whether an individual will develop
symptoms, how severe the symptoms may be, or when they may appear.
What Is a Genetic Test? Scientifically, a genetic test is defined as “an
analysis performed on human DNA, RNA, genes, and/or chromosomes to detect
heritable or acquired genotypes, mutations, phenotypes, or karyotypes that cause or
are likely to cause a specific disease or condition. A genetic test also is the analysis
of human proteins and certain metabolites, which are predominantly used to detect
heritable or acquired genotypes, mutations, or phenotypes.”19 Once the sequence of
a gene is known, looking for the specific changes is relatively straightforward using
a number of scientific methods. In fact, the methods have become so advanced that
hundreds or thousands of genetic variations can be detected simultaneously.
Most clinical genetic tests are for rare disorders, but increasingly, tests are
becoming available to determine susceptibility for future disease, or responses to
different medications. Genetic tests can predict risks of disease, screen newborns for
metabolic or inherited conditions, identify carriers, establish prenatal or clinical
diagnoses or prognoses in individuals, families, or populations or direct clinical
management. Tests that are used primarily for other purposes, but that may
contribute to diagnosing a genetic disease (e.g., blood smear, certain serum
chemistries), or tests for forensic purposes are not included in this definition.
Assessing how well a genetic test works requires determining the association
between the genetic variation and the disease, condition or trait of interest. Some
important measures of association are the clinical sensitivity, clinical specificity, and
the positive predictive value.20 The clinical sensitivity of a test describes how often
allele can be expressed (or observed) more frequently than another. This condition is called
dominant, and the less expressed trait would be recessive. If both are equally strong, the
trait is said to be co-dominant (like A, B, O blood typing). In the eye color example, brown
eyes are dominant and blue are recessive.
Report of the Secretary’s Advisory Committee on Genetic Testing (SACGT), “Enhancing
the Oversight of Genetic Tests: Recommendations of the SACGT,” July 2000, at
[http://www4.od.nih.gov/oba/sacgt/reports/oversight_report.pdf]. Accessed Mar. 14, 2005.
The accuracy of a test is known as its “analytical validity,” which is a mathematical
combination of the analytical sensitivity and specificity. The analytical sensitivity of a test
a test is positive when the disease, condition or trait is present. The clinical
specificity describes how often the test will be negative when the disease, condition
or trait is absent. A false negative result occurs when the test is negative, but the
disease is present. False negative results can occur because the test did not work
properly, or because a different genetic marker — not the one detected by the test —
caused the disease. A false positive result occurs when the test is positive, but the
disease is not present. False positive results can occur because the test detected
something nonspecific (not related to the condition at all) or because of incomplete
penetrance,21 variable expressivity,22 or because the marker is predictive — that is,
the disease has not occurred yet. The positive predictive value of a test is the
proportion of times that an individual has a disease, given that the test was positive.
The positive predictive value is a measure of confidence in how closely associated
the test result is with the trait of interest — a high positive predictive value means
that a person with a positive result is likely to have (or get) the disease.23
Genetic Tests Can Have Variable Clinical Utility. Single gene disorders,
such as sickle cell anemia or cystic fibrosis (CF), result from changes in one gene.
A single genetic change in the hemoglobin gene results in sickle cell anemia. The
associations are straightforward and the positive predictive value of the test, given
that there are two copies of the mutation, is nearly 100%. In contrast, while CF is a
single gene disorder, over 1,000 mutations in the CF gene have been associated with
various forms of the disease. The American College of Medical Genetics (ACMG)
has recommended a panel of 25 mutations, which can detect 80-95% of Caucasian
people who have at least one copy of a gene that can cause CF. Using the test panel
of 25 mutations, the test could be negative, but the individual could still have a
mutation that is not detectable using the panel. The detection rate varies with
ethnicity, so the test of 25 mutations has a different predictive value in individuals
with different ethnic backgrounds.24 As with many other genetic tests, a difference
in test performance among ethnicities creates the potential for differential treatment
of a person or group of persons based on their similar genetic information.
is how often the test detects the genetic marker when it is present. The analytic specificity
is how often the test is negative when the genetic marker is absent. In general, DNA based
tests when performed properly, have high analytical accuracy. Unlike clinical validity,
analytical validity does not associate the test result with the disease.
Incomplete penetrance occurs when a person has the genetic marker for a disease, but does
not express the symptoms of the disease.
Variable expressivity occurs when a person has the genetic marker for a disease, and does
express the symptoms of the disease. However, the symptoms range from extremely mild
to very severe. At this time, geneticists cannot predict the severity of many illness simply
by looking at the genetic markers.
By contrast, the negative predictive value is the proportion of times that an individual does
not have a disease given that the test was negative.
Statement of the ACMG on CF at [http://www.acmg.net/resources/policies/pol-005.asp]
and the GeneClinics Review of Cystic Fibrosis at [http://www.geneclinics.org]. Accessed
Mar. 14, 2005.
The positive predictive value of predictive genetic markers are particularly
difficult to assess because of the long time it takes for the condition to develop.
Mutations can arise spontaneously (called acquired mutations) or can be inherited.
For some tests, like one for the BRCA gene that is associated with a predisposition
to breast cancer, information has accumulated over the past 14 years to demonstrate
the predictive value of the test results. While 2% of individuals in the general
population develop breast or ovarian cancer by age 50, 33-50% of individuals with
a family history of cancer and a BRCA mutation will develop breast or ovarian
cancer by age 50.25
Genetic Tests Are Available. As of March 14, 4, 2005, 578 laboratories
were offering genetic tests for 1,109 diseases. Of those tests, 793 are available for
clinical diagnosis, while 316 are available for research only.26 Asked about realistic
promise of genetic technology, Francis Collins, the Director of the National Institute
for Human Genome Research predicts, “I think we can count on the availability
within the next decade of a panel of genetic tests that are going to be offered to all
of us to determine our risk of common illnesses, focused particularly on those
diseases for which there is some intervention available for those found to be at high
Genetic Tests Are Regulated by the Federal Government. The Food
and Drug Administration (FDA) regulates genetic tests that are manufactured by
industry and sold for clinical diagnostic use.28 These test kits usually come
prepackaged with all of the reagents and instructions that a laboratory needs to
perform the test. FDA requires manufacturers of the kits to make sure that the test
detects what they say it will, in the patient population in which they intend the test
to be used. Depending on the perceived risk associated with the intended use
promoted by the manufacturer, genetic tests must either prove that they are safe and
effective, or that they are substantially equivalent to something that is already on the
T.S. Frank, et al., “Clinical Characteristics of Individuals with Germline Mutations in
Brca1 and Brca2: Analysis of 10,000 Individuals,” Clinical Oncology, vol. 20, no. 6 (Mar.
15, 2002), pp. 1480-1490; and Myriad Genetics, “HBOC Cancer Risks,” at
[http://www.myriadtests.com/provider/risk_hboc.htm]. Accessed Mar. 14, 2005.
Research tests are typically performed in an academic setting to generate or test
hypotheses about the association between a genetic marker and a trait, disease or condition.
Though the distinction is not always clear between tests used in research and in a clinical
setting, research test results generally are not given to the patient. In contrast, results of
clinical tests are returned to patients, and are used in making clinical decisions about how
best to treat a patient, or manage their condition. A complete overview of tests that are
available can be found at [http://www.geneclinics.org]. Accessed Mar. 14, 2005.
E. Rabinowitz, “Genetics in Medicine: Hype or Real Promise?” Health plan, Jan./Feb.
If the studies are performed to support an application to FDA, they must be conducted in
accordance with 21 C.F.R. Parts 50 and 56. Research using federal funding must be
conducted in compliance with human subjects protection regulations from HHS (45 C.F.R.
Part 46). Each regulation describes the requirements for oversight of the research, including
informed consent and the use of information.
market that has the same intended use. As of March 14, 2005, only 11 genetic test
kits have been approved or cleared by the FDA.
Most genetic tests are performed, not with test kits, but rather as laboratory
testing services (or “homebrew” tests), meaning that clinical laboratories themselves
make the reagents used in the tests. Clinical laboratories must conform to the
provisions of the Clinical Laboratory Improvement Act of 1988 (CLIA). CLIA is
administered by the Center for Medicare and Medicaid Services (CMS) and the
Centers for Disease Control and Prevention (CDC). FDA determines the category
of complexity of the test so that laboratories know which parts of CLIA they must
follow. CLIA generally establishes requirements for laboratory processes, such as
personnel training and quality control/quality assurance programs. CLIA requires
laboratories to prove that their tests work properly, to maintain the appropriate
documentation, and to show that tests are interpreted by laboratory professionals with
the appropriate training. However, unlike FDA, CLIA does not require that tests
made by laboratories undergo any review by an outside agency to see if they work
properly. Proponents of CLIA argue that regulation of the testing process (versus the
actual test that FDA reviews) gives the laboratories optimal flexibility to modify tests
as new information becomes available, without requiring that every change be
reviewed by FDA. Critics argue that CLIA does not go far enough to assure the
accuracy of genetic tests.
Some Clinical Genetic Tests Are Covered by Health Insurers. Health
insurers are playing an increasingly large role in determining which medical tests are
available by deciding which tests they will pay for as part of patient benefit packages.
They go one step further than FDA in assessing the utility of any new medical
product or service. While insurers require that a test be approved by FDA (when
required), they also want evidence that it is “medically necessary;” that is, evidence
exists to demonstrate that the test will affect a patient’s health outcome in a positive
way.29 This additional requirement of documented health outcomes underscores the
In a study of private health insurers, genetic testing was found to be medically necessary
(and therefore paid for) when: personal or family history indicated high risk for an inherited
condition, the sensitivity of the test was known, results would directly affect the treatment
or management of the patient, when the diagnosis remains uncertain following conventional
work-up, and when pre-and post-test counseling is provided as appropriate. Nearly all
insurers — including Medicare — will cover cytogenetic testing (chromosome analysis) for
developmental delay, prenatal diagnosis (Medicaid), and to characterize leukemias, and will
cover molecular genetic testing (DNA analysis for gene variation) for rare genetic
conditions. A few insurers have begun to write policies to see if an individual should take
a medication, and if so, how much. For example, insurers have written policies defining the
scope of coverage for HER-2/neu and TPMT testing. HER-2/neu testing is used to determine
an individuals eligibility to receive Herceptin, a new breast cancer drug. TPMT is an
enzyme involved in the metabolism of Azathioprine, an immunosuppressive treatment for
inflammatory bowel disease. Several insurers have considered coverage for the genetic
markers associated with Alzheimer’s Disease, but none have covered the tests to date
because they claim that there is not enough information to demonstrate that the genetic
variation is associated with the development of Alzheimer’s Disease and that early
detection would alter the clinical management of patients. See M.M. Schoonmaker,
“Private Health Insurance Coverage and Payment Policies and Decision-Making Processes
importance of patient participation in long-term research in genetic medicine.
Particularly for genetic tests, many of which can be conducted on most human tissue
specimens from conception to death, data on health outcomes may take a very long
time to collect.
Health information is currently used by health insurers and employers. The use
of the information is regulated by several different laws. Understanding how health
information is currently used and regulated provides a framework for discussion of
whether extra protections are necessary for genetic information, and if so, which
protections are most appropriate.
Use of Health Information by Health Insurers
Standard health insurance practice currently uses family history in the process
of placing individuals (or groups) in a risk category for determining their premiums
(underwriting). Individuals (or groups) at higher risk are charged higher premiums
to cover the anticipated costs of their care. Traditional approaches to underwriting
also use age, sex, type of occupation, financial stability of a group, employee
turnover and prior cost (of care) experience to determine what a group’s insurance
premium should be. In general, premiums for a large group with one or two sick
members can remain relatively stable, as the cost of the sick individuals is spread
amongst all members of the group. However, as groups become smaller, the cost of
insurance for the group is more dependent on the health of the individual group
members, since one sick individual in a small group can result in high premiums for
the whole group. Individuals who are not part of a group (outside of a family) must
bear the entire premium increase associated with any illness, thus making insurance
prohibitively expensive for many sick individuals.
Insurers state that most genetic information is not useful to the underwriting
process, because the clinical significance and relationship to the severity of illness
is not known for many conditions. However, some actuaries agree that adding
diagnostic information significantly improves the power of traditional underwriting
methods to predict future medical expense.30 Furthermore, since insurance
companies already use health information, they believe they should be able to use
genetic information when the link to future illness (and the costs thereof) is
for Genetic Technologies and Services,” presented before the Secretary’s Advisory
Committee on Genetics, Health and Society, Mar. 1, 2004 at [http://www4.od.nih.gov/
oba/SACGHS/meetings/March2004/SACGHS_Mar_2004.HTM]. Accessed Mar. 14, 2005.
R.J. Ellis, et al., “Applying Diagnosis-Based Predictive Models to Group Underwriting,”
Society of Actuaries Health Section News, no. 46 (Aug. 2003), pp. 1, 4-7.
Lowden31 provides examples of how genetic information (including family
history) can be used to underwrite diseases like Huntington’s, breast cancer and
hereditary colon cancer for life insurance. Some health care providers and consumers
fear that Lowden’s model could also be applied to health (or medical expense)
insurance. In the model, persons without a mutation are charged standard rates,
while asymptomatic carriers of mutations, in the presence of family history, are
charged higher premiums to cover the higher mortality which is associated with their
condition. The lower the likelihood that the disease will manifest and cause
premature death, the smaller the increase in premium. For example, the premium for
a person with Huntington’s Disease, which causes disease 100% of the time, would
be higher than that of a person with a BRCA mutation, which is associated with
premature death only 25% of the time. Lowden suggests that insurers support
screening for mutations for which preventive interventions can reduce the risk of
death. However, health insurers may disagree, depending on the nature, expense and
effectiveness of the interventions in preventing symptoms and other medical costs of
treating an acute or chronic illness; that which reduces the risk of death, may not
reduce health or disability expenses (and lower life insurance premiums).
Insurers are concerned about adverse selection. Adverse selection occurs when
individuals have information about their genetic risk and they purchase health, life
or disability insurance at lower rates and without disclosing that information to the
insurer. This practice threatens financial solvency of insurance companies because
individuals are able to obtain insurance at low premiums that do not accurately reflect
their risk of expenditures.32
Use of Health Information by Employers
Employers are permitted to require medical examinations of prospective
employees who have been given conditional offers of employment, if all employees
in a similar situation are given the medical exam. They are also permitted to receive
information related to applicants’ or employees’ current disability or health status
when the information is related to the individuals’ abilities to do their job.33
However, the Americans with Disabilities Act (ADA) prohibits employers from
revoking an offer, or from making other promotion decisions on the basis of that
health information. Though genetics is not specifically addressed by the ADA, the
Equal Employment Opportunities Commission (EEOC) interprets the ADA to mean
that employees and/or job applicants cannot be required to undergo genetic screening.
Supporters of the new legislation argue that because ADA does not explicitly address
J.A. Lowden, “Underwriting Lethal Genetic Diseases,” Journal of Insurance Medicine,
vol. 30, no. 1 (1998), pp. 5-11.
Statement of Tom Miller, Director of Health Policy Studies, The Cato Institute, on
Genetic Privacy before the Judiciary Subcommittee on the Constitution, U.S. House of
Representatives, Sept. 12, 2002.
Remarks of Paul Miller, Commissioner of the EEOC, “Analyzing Genetic Discrimination
in the Workplace,” at the EINSHAC International Working Conversation on
Enviro/Genetics Disputes and Issues, July 2001.
genetics, the protections that would be applied by the court system are not clear.34
Opponents believe that the ADA is sufficient, and that the new legislation is not clear
on workplace situations where an employee’s genetic makeup could interfere with
the major functions of the individual’s job or put others at risk of harm.
What Is Genetic Information?
The definition of genetic information varies among sources. It is generally
described as the information from a genetic test about genes, gene products, inherited
characteristics or other traits that are derived from an individual or an individual’s
family member(s). Information about an individual’s current health status (such as
sex, age, results of physical examination, and chemical, blood, or urine analysis —
where the analyses do not provide information about an individual’s genotype) is
generally not considered to be genetic information. It is important for lawmakers to
understand the scope of different definitions, as the broader the definition the more
expansive the prohibitions on discrimination.
The Genetic Test Result. By a narrow definition, genetic information is
derived from a genetic test. Genetic tests, when performed on most normal body
tissues or cells (i.e., blood or cheek swab, fetal or embryonic cells) provide
information about the individual’s genes that were inherited from their mother and
father. Individuals cannot help or change their inherited genetic make-up (at least
with today’s scientific capabilities). In this manner, DNA-based testing of inherited
genetic variants differs from other medical testing in important ways: it can have
exceptionally long-range predictive powers over the lifespan of an individual; it can
predict disease or increased risk for disease in the absence of clinical signs or
symptoms; it can reveal the sharing of genetic variants within families at precise and
calculable rates; and, at least theoretically, it has the potential to generate a unique
identifier profile for individuals. Also unlike most other medical tests, the stability
of DNA means that most genetic tests can be performed on material from a body
(such as the root of a human hair) and continue to provide information after the
individual has died.
Genetic tests can also be performed on the DNA, RNA or protein of tissue that
has been altered by disease (such as a tumor) and provide information about the
disease process. Sometimes, the disease process results in genetic changes, or
conversely, genetic changes (such as a result of an exposure to a toxic or infectious
agent) can result in disease. These genetic changes are said to be acquired because
they occur only in the disease tissue, and not in the rest of the body’s cells.
Tests that are performed for acquired genetic markers that occur with a disease
have implications only for individuals with the disease, and not family members. In
general, tests to determine what genes are turned on and off, and what gene products
are made in diseased tissue in response to medication are called “pharmacogenomic”
For a more detailed discussion of legal issues relating to the use of genetic information,
please see CRS Report RL30006, Genetic Information: Legal Issues Relating to
Discrimination and Privacy , by Nancy L. Jones and Alison M. Smith.
tests. For example, a tumor may have acquired genetic changes that make it different
from normal host tissue that may also render that tumor susceptible or resistant to
chemotherapy. Some argue that genetic tests to determine if an individual is likely
to have an adverse effect of a medication (also known as pharmacogenetic tests) are
different from genetic tests for heritable disease or susceptibility to disease. While
pharmacogenetic information may not have the same stigma associated with it that
tests to determine whether or not someone has (or will get) a disease, the results
could provide unintentional information about other unrelated characteristics that
could also apply to family members.
Tests on gene products, notably RNA and protein, usually provide more limited
information about the current state of biochemical health much like other laboratory
analyses. However, in some situations, they can indirectly provide information about
what is happening at the DNA level. For example, a particular protein may be
missing or not functioning well because there is a mutation in the gene that codes for
the protein. Alternatively, the protein problem could be caused by interference from
some other factor related to disease or environment. High cholesterol may result
because of abnormal genes that affect the body’s ability to metabolize or make
cholesterol, or it may simply be a result of too many saturated fats in an individual’s
Family History. Defined more broadly, “family history is the first genetic
test.”35 Family history of traits, diseases, or conditions, is also considered ‘genetic’
information by the medical community: if an individual has multiple relatives with
a trait or disorder he/she may also have a higher than average risk of also having the
trait or disorder. Particularly for complex traits or disorders, tests have not been
developed or are not widely available for the exact genetic marker that causes or is
associated with the disease. Instead of a direct test, health professionals can use other
markers that ‘run in the family’ as a surrogate measure when they also run with the
Is Genetic Information Different
from Other Medical Information?
Medical information is often presumed confidential, but increasing capabilities
to store and rapidly transfer data escalate the challenge of protecting privacy. At
issue is whether genetic information should be protected generally as a subset of
medical or health data, or by special genetic privacy laws. Those making the case
against special protections assert that genetic information is fundamentally no
different than other health data and is already adequately protected by medical
privacy laws. Proponents argue that genetic information warrants special protection
because of its stability, unique predictive qualities, and the impact that public fear
of discrimination is having on the behavior of patients and healthcare providers.
Presentation of Joseph McInerney, Executive Director of the National Coalition of Health
Professional Education in Genetics (NCHPEG), before the Personalized Medicine Coalition
Educational Forum, Apr. 16, 2004.
One study compared the experiences, attitudes and beliefs of persons with
genetic conditions (cystic fibrosis and sickle cell disease) to those with other serious
medical conditions (diabetes, HIV, breast cancer and colon cancer) and to persons at
risk for developing a disease (breast or colon cancer) due to strong family history.
The authors found that in most instances, patients felt strongly that their medical
information needed to be protected regardless of whether the information was genetic
or non-genetic medical information. In fact, respondents indicated that information
about non-genetic stigmatizing conditions — such as abortion history, mental health
history, drug and alcohol history, HIV status, and sexually transmitted disease —
needed special protection. Based on their findings, the authors concluded that
separate privacy policies for genetic and non-genetic medical information could be
The Senate report for S. 1053 (S.Rept. 108-122), the genetic nondiscrimination
bill that was passed by the Senate in 2003, acknowledged that eventually “it may not
be possible or even desirable in health care delivery or scientific research to isolate
genetic information as it pervades health information.” Understanding the ways in
which genetic information is like and unlike other types of information can help to
inform the debate over the need for genetic-specific nondiscrimination legislation.
Implications of Genetic Information for Individuals. Like other medical
information, genetic test results can be used to diagnosis a disease or condition.
However, unlike most other medical tests, they can also be used to predict that a
currently healthy person may develop a debilitating condition at some point later in
their life. Alternatively, the information may only suggest that the individual may be
susceptible to — or at risk for developing — a particular illness or condition. Some
of these future conditions may not have an intervention that can alleviate, mitigate
or prevent the condition from occurring. Many rely on individuals taking personal
responsibility for their health related behaviors (i.e., avoiding fatty foods if they have
a defined genetic risk for obesity or heart disease). Similar to other medical tests,
inaccurate results can result in increasing a patient’s anxiety level if they are positive,
or give them a false sense of reassurance if the results are negative. A false genetic
test result could cause a provider to make a wrong treatment decision. The provider
could give a medicine to a patient that will not likely work for them or worse, cause
them to experience an adverse event. Or, the provider could fail to give a medicine
to a patient that could have alleviated their symptoms or disease.
Genetic testing may reveal unintentional information about a person, or
information with unknown significance given current scientific limitations. In
general, though health information may also be revealed through routine non-genetic
medical testing (such as AIDS or pregnancy testing), the development of multiplex
testing and gene chip technology, and of research linking genes with health
characteristics, is enabling an increasingly cost effective mechanism for testing
hundreds or even thousands of genetic health indicators at one time. Genetic testing
on this scale could likely lead to the revelation of an enormous amount of unexpected
L. Plantinga et al., “Disclosure, Confidentiality, and Families: Experiences and Attitudes
of Those with Genetic Versus Nongenetic Medical Conditions,” American Journal of
Medicine, General Part C, vol. 119C (2003), pp. 51-59.
health information about individuals, making true informed consent for each
individual test prohibitively time consuming. Banking and storage of this vast
amount of information, along with personal identifiers, provides unique challenges
to privacy protections. Consumer advocates caution that although economic
incentives favor testing for a large number of genetic characteristics at one time,
testing should be limited to allow for thorough informed consent and genetic
Genetic information can be used not only for health care, but also to identify
individuals with a high degree of certainty. Genetic information has been used to
help convict and exonerate individuals accused of committing crimes. It has been
used to help identify the remains of war and accident victims. Because of these
potential applications, tissue samples and certain types of genetic information
collected for health care purposes could be used in law enforcement, and vice versa.
Knowledge that genetic information collected for health care may have forensic
applications may help to guide lawmakers concerned with the availability and use of
Implications of Genetic Information for the Family. Like other medical
tests, genetic tests for acquired markers have direct medical implications only for the
individuals taking the tests. However, unlike other medical tests, genetic tests for
inherited traits have implications for biological relatives of the individual. Parents,
siblings and children have a predictable risk of sharing certain genetic markers.
Furthermore, the unchanging nature of DNA means that genetic testing for inherited
conditions can be performed at any stage of human development on most tissue
types, offering the possibility of preimplantation or prenatal diagnosis, or fetal
It is more difficult determining risk to family members of a complex disorder
(such as susceptibility to cancer, mental illness, or heart disease), because scientists
have not yet been able to tease apart the relative influence of genetic and
environmental factors in disease progression. Some genetic tests cannot be
interpreted for an individual unless some members of their family are also tested.37
In those cases, family members may or may not want to know their test results.
Sometimes testing family members can provide evidence that an individual’s
paternity is not what he or she previously thought.
Implications of Genetic Information for Society. Genetic information
challenges traditional medical perceptions of health and disease, what is normal or
abnormal, and raises questions about what constitutes “current” or “manifested”
disease. These concepts are becoming increasingly blurred as scientists gain the
ability to interpret genetic information with more resolution. For example, consider
the trait of, intelligence or a biochemical process such as glucose metabolism. Human
beings vary along a continuum of each, but at some point the extremes become
Referring to the BRCA analysis for breast cancer previously mentioned: BRCA mutations
can occur in the general population, where the risk of breast cancer is relatively low.
However, if an individual has multiple family members with both cancer and a mutation,
their chances of getting cancer become very high if they have the mutation.
pathologic. Many genetic conditions lead to mental retardation, and yet there are
other genetic factors that influence low average to above average intelligence.
Genetic factors have been associated with the development of diabetes.
Genetics may soon provide the opportunity to test large groups of people for
disease susceptibilities and begin to devise health interventions to alleviate or
mitigate the risk of or prevent or cure diseases. However, fear caused by the
possibility that a job may be lost or insurance may be cancelled — whether real or
perceived — is the primary reason individuals refrain from seeking what could be a
beneficial genetic test in clinical or research settings.38 As a result, the ability of
scientists to gather the data that are necessary to determine the utility or ultimately
the value in genetic testing for medicine is compromised. Furthermore, because the
prevalence of disease causing genes often varies by ethnicity, there is potential for
discrimination against groups of people that share similar genetic information.
Genetic information may be used in order to link a person to a distinct group or
heritage. This type of information may have consequences, particularly for
individuals who have rights based upon heritage, such as Native American Indians.
Advocates of these groups are wary of the potential effect that genetic testing and
information could have both on their current rights and protections, and on future
discrimination against them. Others argue that definitions of race and heredity are
irrelevant or that genetic testing will not supplant current non-genetic determinants
Another societal issue has to do with scientific progress and implications both
for privacy and for equity. In the privacy arena, a person could grant others access
to genetic data that is benign by standards of today. However, with scientific
advancements these same data may reveal more sensitive information. In the equity
arena, those with health conditions for which genetic tests currently exist may suffer
discrimination in the near future while those with similarly debilitating health
conditions for which there is no genetic test may escape the same discrimination
simply by virtue of the current state of science. While large-scale banking of some
genetic information could have widespread public health benefit — such as
facilitating characterization of genetic markers associated with rare adverse drug
events — both of these potentialities should be of interest to those seeking to limit
or facilitate access to genetic information.
M.A. Hall and S.S. Rich, “Genetic Privacy Laws and Patients’ Fear of Discrimination by
Health Insurers: The View from Genetic Counselors,” Journal of Medical Law and Ethics,
vol. 28, no. 3 (fall 2000), pp. 245-257, see also [http://info.med.yale.edu/ycc/releases/
release_42_October_21%2C_1999.html]. Accessed Mar. 14, 2005.
What Evidence Is There That Genetic
There have been few actual cases of genetic discrimination in health insurance
and employment. Rothenbery and Terry39 hypothesize that this is because: (1) the
use of genetic information by employers and insurers is not widespread; (2) affected
persons may not know the underlying basis for adverse employment or insurance
decisions; and (3) many cases may go unreported because of disincentives associated
with publicizing discrimination lawsuits.
Cases of Genetic Discrimination. There have been a few studies of the
prevalence of genetic discrimination in health insurance, employment, and other
settings. One study reported that 22% of the respondents indicated that they or a
family member were refused health insurance as a result of a genetic condition.40
This study was strongly criticized by the Health Insurance Association of America
(HIAA), which has argued that there is no evidence showing that insurers engage in
genetic discrimination, and that federal legislation to prohibit discrimination based
on genetic information is unnecessary.41 However, another study found that a
number of institutions, including health and life insurance companies, health care
providers, blood banks, adoption agencies, the military and schools, were reported
to have engaged in genetic discrimination against asymptomatic individuals. The
alleged discriminatory practices included an insurance company treating a genetic
diagnosis as a preexisting condition, an adoption agency refusing to allow a woman
at risk for Huntington’s disease to adopt a child, and an employer terminating an
employee after the employee disclosed a risk of Huntington’s disease.42
On October 18, 2004, several individuals shared stories of genetic
discrimination with the Secretary’s Advisory Committee on Genetics, Health and
Society (SACGHS).43 These cases are highlighted below:
Phil Hardt has hemophilia B, a bleeding disorder, and Huntington’s
Disease. He testified that a human resource manager for an early
employer had indicated that he should withhold information about
Karen Rothenberg and Sharon Terry, “Before It’s Too Late: Addressing Fear of Genetic
Information,” Science, vol. 297, no. 5579 (July 12, 2002), pp. 196-197.
E. Virginia Lapham, Chahira Kozma, and Joan O. Weiss, “Genetic Discrimination:
Perspectives of Consumers,” Science, vol. 274, no. 5287 (Oct. 25, 1996), pp. 621-624.
Testimony of the HIAA on Genetic Testing, in U.S. Congress, Senate Committee on
Labor and Human Resources, 105th Cong., 2nd sess. (May 21, 1998).
L.N. Geller, J.S. Alper, P.R. Billings, C.I. Barash, J. Beckwith, and M. Natowicz,
“Individual, Family, and Societal Dimensions of Genetic Discrimination: A Case Study
Analysis,” Science and Engineering Ethics, vol. 2, no. 1, (1996), pp.71-88. See also
American Council of Life Insurance, “Statement Regarding the Council for Responsible
Genetics ‘Study’ on Genetic Discrimination” (Apr. 11, 1996).
Testimony of SACGHS can be found at [http://www4.od.nih.gov/oba/SACGHS/
meetings/October2004/SACGHSOct2004postmeeting.htm]. Accessed Mar. 14, 2005.
his hemophilia and any bleeding episodes from his employer or he
would never be promoted or trained. In addition, he indicated that
his daughter was unable to receive mortgage life insurance unless
she tested negative for Huntington’s Disease. His grandson was
denied health insurance because of the hemophilia B that he
inherited, and that his was forced to accept lower wages so that they
could qualify for state welfare and insurance coverage. Two of his
other children decided to pay out of pocket, and to be tested
anonymously for Huntington’s Disease to protect them from
discrimination. Mr. Hardt since applied — and was rejected — for
long-term care insurance.
Rebecca Fisher, a mother and early-breast cancer survivor with a
strong family history recounted how her employer, a small, selfinsured community hospital, was more concerned that the cost of her
bone marrow transplantation and other health care had exceeded the
cap for that year than with her health or productivity.
Tonia Phillips, a woman with a BRCA-1 mutation in her family,
chose to undergo prophylactic surgery to reduce her risk of breast
and/or ovarian cancer. After her procedures, her employer’s health
insurance policy had increased by $13,000 for four people. Her
employer asked her to switch to her husband’s policy, and in doing
so, indicated that she would receive a wage increase.
Paula Funk, another individual who carried a BRCA-1 mutation,
indicated that she and her family paid out of pocket for testing, and
that her physicians and health care providers would not write her
BRCA-1 status on insurance claims forms because of the potential
for discrimination. She further testified regarding her difficulty in
finding an insurance company that would cover herself and her
husband, co-owners of a small business, as a group so that their
premiums would be affordable, given her family history and genetic
Heidi Williams, an individual diagnosed with alpha-1 antitrypsin
deficiency,44 also spoke at a press conference at the House of
Representatives on April 1, 2004; she explained that a large health
insurance company (Humana) had denied health insurance coverage
for her two children on the basis that they were carriers of alpha-1
Alpha-1-antitrypsin deficiency is a rare hereditary condition that results in lower
production of a protein called alpha-1-antitrypsin. Alpha-1-antitrypsin circulates in the
blood and protects the tissues of the body from being damaged by chemicals contained in
white blood cells. Low levels of alpha-1 antitrypsin can result in lung and/or liver damage.
The disease results when two copies of an abnormal gene are inherited — one from the
mother and one from the father. When an individual inherits only one copy of an abnormal
gene, they are known as “carriers.” Carriers have levels of the protein that are in between
those of individuals who do not have an abnormal gene, and those with two copies of the
gene. Carriers typically do not experience adverse health outcomes.
antitrypsin disease. Carriers only have one copy of an abnormal
gene, and do not exhibit symptoms of the disease. After receiving
inquiries from the Genetic Alliance (a consumer advocacy
organization) and the press, the insurance company reversed its
decision to deny coverage, and provided six months of free
On July 20, 2000, Terri Seargent, also an individual diagnosed with
alpha-1 antitrypsin deficiency, filed a statement with the Senate
Health, Education, Labor and Pension Committee indicating that
soon after her diagnosis, she was unexpectantly released from
employment. Without a job, and having a pre-existing condition,
she also lost her health, life and disability insurance. Later, an
investigation by the Equal Employment Opportunity Commission
(EEOC) supported her allegation of discrimination under the
Americans with Disabilities Act (ADA).45
Genetic Testing by Employers. Though not yet believed to be a
widespread practice, surveys of employer practice and employee experience indicate
that there are some employers that test employees for genetic markers. No genetic
employment discrimination cases have been decided in a federal court or the
Supreme Court. However, several have been brought or threatened, and two cases
were settled out of court.46
The American Management Association (AMA) has conducted several surveys
of employer practices in medical testing in the workplace. In their 2001 survey, the
AMA found that 68% of major U.S. firms require medical examinations for new
hires, current employees, or both. These are most frequently required in public
administration and manufacturing positions and less frequently in business or
professional positions. Establishing “fitness for duty” is the leading reason that firms
engage in complete medical examinations (48% of respondents). According to a
revised version of their annual survey, 1.3% of companies test new or current
employees for sickle cell anemia, 0.4% test for Huntington’s Disease, and 20.1% ask
about family medical history. When asked if results (e.g., from employer test
programs, or from testing done elsewhere) were used in hiring, reassigning, retaining
or dismissing employees, 1.0% of employers indicated that the sickle cell, 0.8%
indicated that Huntington’s and 5.5% indicated that family history results were used
in any regard.
In their 1998 survey, the AMA questioned the respondents’ understanding of
what constituted a genetic test. When presented with NIH’s definition of genetic test
— “an analysis of human DNA, RNA, chromosomes, proteins, and certain
metabolites in order to detect heritable disease related genotypes, mutations,
See Neil Osterweil, “Electronic Records, Private Lives: Who Gets a Peek at Online
Medical Information?” at [http://my.webmd.com/content/article/74/89227.htm]. Accessed
Mar. 14, 2005.
CRS Report RL30006, Genetic Information: Legal Issues Relating to Discrimination and
Privacy, by Nancy Lee Jones and Alison M. Smith.
phenotypes, or karyotypes for clinical purposes. Such purposes include predicting
risk of disease, identifying carriers, and establishing prenatal and clinical diagnosis
or prognosis” — only two respondents (out of 1,627) indicated that they performed
genetic testing. A larger percentage (14.3%) indicated testing for “susceptibility to
workplace hazards.” Upon further investigation, the AMA found that not all of the
testing was “genetic testing.” Followup interviews indicated that only nine of 44
employers who indicated having testing programs, actually had genetic testing
programs. Apparently some employers thought that any blood test constituted
“genetic testing;” others thought that diagnostic testing rather than susceptibility
testing was “genetic testing.”47
Employers have long been interested in identifying “optimal” employees using
non-health characteristics — such as behavior (i.e., substance abuse, mental
instability, compulsive disorders) or intelligence — to identify special skills or
deficits that are predictive of productivity.48 Though behavioral genetics is not ready
for prime time testing (largely due to the very complex interaction of genes and the
environment), other forms of testing are common. For example, the 2001 AMA
survey found that testing for illegal substance use is the most common form of
workplace testing, practiced by 67% of employers.
A study of 332 consumers who were members of genetic support groups found
that 13% of respondents reported that they or another family member were denied a
job or let go because of a genetic condition in the family.49 The experience was
significantly different for respondents who had a genetic condition (21%) compared
to respondents who did not have a genetic condition (4%). Two examples were
highlighted: one respondent, a man with a sex chromosome disorder, indicated that
he was denied a job when a doctor wrote the name of the disorder on his medical
report during his pre-employment physical. The potential employer told the applicant
of the decision and, knowing it was illegal, also stated that they would deny the
conversation. In the second example, a woman with a skeletal disorder reported that
her employment was terminated after she informed her employer of her diagnosis.
The woman sought legal counsel, and the termination was withdrawn.
In 2002, Burlington Northern Santa Fe Corporation, one of the country’s biggest
railroads, agreed to pay $2.2 million to settle charges that it had tested employees
without their knowledge for a genetic marker dubiously associated with carpel tunnel
syndrome (CTS). CTS is a painful hand and wrist condition often caused by
repetitive motion. The company denied violating the law, and insisted that testing
was necessary to determine the cause of injury to 36 employees who claimed to have
job-related CTS (20 actually underwent testing before the program was voluntary
American Management Association, “2001 Survey on Workplace Testing: Medical
Testing” (New York: American Management Association, 2001).
M. A. Rothstein, “Genetics and the Work Force of the Next Hundred Years,” Columbia
Business Law Review, vol. 3 (2000), pp. 371-402, in P. G. Epps, “Policy Before Practice:
Genetic Discrimination Reviewed,” American Journal of Pharmacogenomics, vol. 3, no. 6,
(2003), pp. 405-418.
Virginia E. Lapham, Chahira Kozma, and Joan O. Weiss, “Genetic Discrimination:
Perspectives of Consumers,” Science, vol. 274, no. 5287 (Oct. 25, 1996), pp. 621-624.
suspended).50 In 1998, Lawrence Berkeley Laboratory was accused of testing
employees for syphilis, pregnancy and the sickle cell trait without their knowledge
or consent. The case was settled in 1999.51
OSHA. The Occupational Safety and Hazard Act (OSHA) establishes a legal
duty for employers to protect employees from hazards in the workplace. Although
the statute does not require an employer to perform particular tests, the employer may
choose to implement programs that monitor employees’ potential exposure to toxic
or hazardous elements. Standards for these programs, found in 29 C.F.R. Part 1910,
allow for genetic testing:
Such a program could include genetic testing to evaluate employees for acquired
genetic changes resulting from an exposure in order to control adverse outcomes
and minimize exposure to hypersensitive persons.
Genetic monitoring for acquired damage resulting from exposure to a toxic
element is different from genetic screening for an inherited predisposition to an
occupationally related disease.52 For example, monitoring may be used to determine
if an employee is developing damage from being exposed to asbestos. On the other
hand, a different type of test could potentially determine if the employee was more
susceptible to asbestos damage to begin with. The distinction may be relevant in
future disagreements concerning whether any ill-health effects sustained by the
worker were a result of the job exposure, or if they were caused by something the
worker “was born with.”
For work areas using regulated, known carcinogens (i.e., cancer-causing agents),
OSHA requires that:
before an employee is assigned to enter a regulated area, a preassignment
physical examination by a physician shall be provided. The examination shall
include the personal history of the employee, family and occupational
background, including genetic and environmental factors. ... Employers of
employees examined pursuant to this paragraph shall cause to be maintained
complete and accurate records of all such medical examinations. Records shall
be maintained for the duration of the employee’s employment.53
The following excerpts are from two examples of OSHA recommendations
regarding exposure to specific toxic elements. For lead:
L. Girion, “Nurse Derails Genetic Testing,”Los Angeles Times, Feb. 25, 2001, p. W1; and
P. Szekely, “Railroad to Pay $2.2 Million in DNA Test Case Illegally Testing Workers for
Genetic Defects,” Reuters Associated Press, May 8, 2002.
L. Girion, “Nurse Derails Genetic Testing,” Los Angeles Times, Feb. 25, 2001, p. W1.
P.G. Epps, “Policy Before Practice: Genetic Discrimination Reviewed,” American Journal
of Pharmacogenomics, vol. 3, no. 6, 2003, pp. 405-418.
61 FR 9242, Mar. 7, 1996, as amended at 63 FR 1286, Jan. 8, 1998; 63 FR 20099, Apr.
the medical history is also of fundamental importance and should include a
listing of all past and current medical conditions, current medications including
proprietary drug intake, previous surgeries and hospitalizations, allergies,
smoking history, alcohol consumption, and also non-occupational lead exposures
such as hobbies (hunting, riflery). Also known childhood exposures should be
elicited. Any previous history of hematological, neurological, gastrointestinal,
renal, psychological, gynecological, genetic, or reproductive problems should be
For ethylene oxide (EtO):
clinical evidence of adverse effects associated with the exposure to EtO is
present in the form of increased incidence of cancer in laboratory animals
(leukemia, stomach, brain), mutation in offspring in animals, and resorptions and
spontaneous abortions in animals and human populations respectively. Findings
in humans and experimental animals exposed to airborne concentrations of EtO
also indicate damage to the genetic material (DNA). These include hemoglobin
alkylation, unsecheduled DNA synthesis, sister chromatid exchange
chromosomal aberration, and functional sperm abnormalities.
Impact of the Fear of Discrimination on Behavior. While there are few
documented cases of discrimination, studies have shown that public fear of
discrimination influences the uptake of genetic testing and the use of genetic
information by consumers and health professionals. On January 27, 2000, the
Secretary’s Advisory Committee on Genetic Testing (SACGT) sponsored a public
forum to gather perspectives on issues in genetic testing. Many comments were
received from patients, consumers, health professionals, scientists, genetic test
developers, educators, industry representatives, policymakers, lawyers, students and
others representing a wide range of diverse ethnic and racial groups.54 Comments
were also received from a mailing to 2500 individuals and organizations and a
website consultation requesting feedback on several issues. The comments revealed
several anecdotal cases of discrimination, and resulted in the committee forwarding
two letters to the Secretary of Health and Human Services (HHS) urging support for
During consultations with the public SACGT heard from many Americans who
are concerned about the misuse of genetic information by third parties, such as
health insurers and employers, and the potential for discrimination based on that
information. Many stated that fear of genetic discrimination would dissuade
them from undergoing a genetic test or participating in genetic research studies.
Others stated that they would pay out of pocket for a genetic test to prevent the
results from being placed in their medical record. Such concerns are a deterrent
to advances in the field of genetic testing and may limit the realization of the
benefits of genetic testing.55
Highlights and transcripts of testimony can be found on the SACGT website at
[http://www4.od.nih.gov/oba/sacgt/sacgtmtg.htm]. Accessed March 14, 2005.
From a letter from SACGT to Secretary Tommy Thompson, May 3, 2001, at
[http://www4.od.nih.gov/oba/sacgt/ltr_to_secDHHS5-3-01.pdf]. Accessed Mar. 14, 2005.
At the October 18, 2004 meeting of SACGHS, several individuals testified
about how their fears of discrimination affected their behavior:56
Carolina Hinestrosa, a 10-year, two-time survivor of breast cancer
and executive vice president for programs and planning of the
National Breast Cancer Coalition stated that despite her strong
personal and family history, she has not undergone genetic testing
for fear of discrimination against herself and her daughter.
A mother, Phaedra Malatek, described how her family has not taken
advantage of the health benefits of genetic testing for
hemochromatosis that ran in her family because of their fear of
losing their health insurance, and possible discrimination against her
children when they seek employment.
Surveys of professionals and patients suggest that individuals are most likely to
withhold information about genetic testing from insurance companies and their
employers. A survey of genetic counselors57 found that, should counselors
themselves be at risk of developing either breast cancer or hereditary non-polyposis
colon cancer, most (108/159) would not submit charges to their insurance companies
primarily because of the fear of discrimination. Twenty-five percent would use an
alias when obtaining a test to reduce the risk of discrimination and maximize
confidentiality. Most respondents indicated that, while they would share results with
their physicians, family, and friends; sixty percent would not share the information
with colleagues because of the need for privacy and fear of job discrimination based
on the result.58
Of 91 participants in a study on hereditary pancreatitis, 22% believed that
knowing their test results “might lead to medical insurance discrimination” for
themselves or their families. While most individuals would share information with
a physician or their family, only 4% indicated they would share results with their
insurance companies, and 20% would shared them with their employers.59 Another
study of 98 extended families with history of breast or ovarian cancer, reported on
716 of 1,315 individuals who underwent counseling and DNA testing. Before
receiving results, about half were concerned about insurance discrimination, and 1%
Testimony of SACGHS can be found at [http://www4.od.nih.gov/oba/SACGHS/
meetings/October2004/SACGHSOct2004postmeeting.htm]. Accessed Mar. 14, 2005.
A genetic counselor is a health care professional who works very closely with a patient
to explain genetic testing options, to interpret test results and explain the implications of
genetic information to that patient and their family.
E.T. Matloff et al., “What Would You Do? Specialists’ Perspectives on Cancer Genetic
Testing, Prophylactic Surgery, and Insurance Discrimination,” Journal of Clinical
Oncology, vol. 18, no. 1 (June 2000), pp. 2484-2492.
S. E. Applebaum-Shapiro, et al., “Motivations and Concerns of Patients with Access to
Genetic Testing for Hereditary Pancreatitis,” American Journal Gastroenterology, vol. 96,
no. 5 (2001), pp. 1610-1617.
indicated that they felt strongly that their family history of cancer had been the basis
for insurance discrimination.60
A group of scientists at the University of Michigan offered gene testing for
susceptibility to breast cancer to 184 individuals participating in a cancer risk
evaluation clinic. Patients were charged about $225 for the initial consultation, and
were required to pay Myriad Genetics directly for any testing they pursued. At the
time, Myriad charged $395 for analysis of a single mutation, $450 for analysis of
three common mutations found in individuals of Ashekenazi Jewish descent, and
$2,400 for full sequencing of the breast cancer susceptibility genes (also called
BRCA1 and 2). Patients had the option of self-paying, or billing their insurance
companies. Though discussion of potential discrimination was standard practice in
the counseling session that accompanied testing, the researchers only counted
concerns initiated by the patient during the session. Of the 184 patients, 106
underwent testing. Of the 78 patients who declined testing, 48 (or 26% of the
original cohort of 184) declined due to concerns about cost, confidentiality or
insurance discrimination.61 The authors found it difficult to separate concerns about
cost, confidentiality and fear of insurance discrimination. Although a patient may
have wanted to self-pay for fear of potential discrimination, the high cost of testing
may have forced the patient to choose to bill insurance, or decline testing. The
authors estimated that approximately 14% of patients eligible for testing would have
had a BRCA mutation, but would not undergo testing because of cost, discrimination,
or confidentiality concerns.
A follow-up telephone interview was conducted with 92 of the 184 patients
concerning their actual experiences with their insurance companies. Of the 92, 15%
paid out of pocket, intentionally not involving their insurance companies, while 38%
(35 of 92) indicated that they did not have any problems obtaining coverage for the
services requested. However, of those 35 patients, 23 only requested payment for the
consult and surgery — not the testing — from their insurers. The remaining 47%
experienced various difficulties in obtaining coverage for some or all of the services.
The patient’s family income was a significant factor in the decision to seek insurance
reimbursement. In another study of 68 patients offered genetic testing for breast
cancer, while 18 had access to free testing, and 13 sought insurance reimbursement,
the remaining 37 chose to pay out of pocket citing concerns over insurability and
H.T. Lynch et al., “Hereditary Breast-ovarian Cancer at the Bedside: Role of the Medical
Oncologist,” Journal of Clinical Oncology., vol. 21, no. 4 (Feb. 15, 2003), pp. 740-753.
E.A. Peterson et al., “Health Insurance and Discrimination Concerns and Brca1/2 Testing
in a Clinic Population,” Cancer Epid, Biomarkers and Prev, vol. 11 (Jan. 2002), pp. 79-82.
S.C. Lee, B.A. Bernhardt, and K.J. Helzlsouer, “Utilization of Brca1/2 Genetic Testing
in the Clinical Setting,” Cancer, vol. 94, no. 6 (Mar. 15, 2002), pp. 1876-1885.
Concerns about discrimination may be lower amongst those with the lowest
income who were covered by government programs, such as Medicaid, because
eligibility does not depend on health status or underwriting decisions.63
When viewing evidence of the ways in which fear of genetic discrimination
affects behavior, some have questioned whether genetic counseling itself may
inadvertently add to the fear. The risk of discrimination by employers and insurers
is often discussed in the counseling session that accompanies testing. Most
counselors typically spend up to 15 minutes of a one- to two-hour counseling session
discussing patient concerns about discrimination, even in states with more
comprehensive anti-discrimination laws. Counselors typically note that actual cases
of discrimination are few, and will provide information regarding the various legal
protections.64 While many counselors indicate that a significant proportion (25-50%)
of patients may decline testing due to potential discrimination, other patients accept
testing because the benefits of the information to their health or the health of a
relative outweigh the risk of discrimination. Either way, counselors note that the
potential risk adds to an already stressful situation.
In order to reassure patients about privacy, genetic counselors may vary their
practices in several ways: they may be discreet about how a visit is documented (i.e.,
for cancer screening, not genetic testing); they may not send the results to the
referring physician unless asked specifically by the patient to do so; or, they may
request that the physician keep the results in a separate medical record. Some will
forward coded samples to the laboratories for testing. Many genetic counselors will
themselves maintain patient files that are separate from the rest of the hospital or
medical center’s records to minimize the possibility that an insurer will obtain
genetic information in the process of reviewing a medical record for reimbursement.65
Genetic counselors note that the fears associated with predictive testing for
future adult onset illness are not as apparent in testing in the prenatal and pediatric
populations. Presumably this is because of the “crisis atmosphere” created with the
diagnosis of a potential birth defect and the parents’ decision of whether or not to
terminate a pregnancy. In some cases including those involving newborns, the fear
of insurability may be mitigated by the fact that children are covered under their
parents’ policies. However, some counselors have expressed concern about the way
in which genetic information will be viewed when children become adults and have
to find insurance on their own.66
M.A. Hall and S.S. Rich, “Genetic Privacy Laws and Patients’ Fear of Discrimination by
Health Insurers: the View from Genetic Counselors,” Journal of Law, Medicine and Ethics,
vol. 28, no. 3 (fall 2000), pp. 245-257. (Hereafter cited as M.A. Hall and S.S. Rich,
“Genetic Privacy Laws.”)
M.A. Hall and S.S. Rich, “Genetic Privacy Laws.” See also references and endnotes 1416 therein.
How Do S. 306 and H.R. 1227
Compare to Existing Law?
Currently a number of federal laws touch the issues raised by the use of genetic
information:67 the ADA, Title VII of the Civil Rights Act of 1963, the Health
Insurance Portability and Accountability Act (HIPAA) and Executive Order 13145.
The ADA protects people from discrimination based on existing disability, history
of disability, and perception of disability in employment. The executive order
extends ADA prohibitions (including those based on genetic information) to federal
agencies acting as employers. The HIPAA privacy regulations restrict the disclosure
of health information, including genetic information, by group health plans. HIPAA
also allows group health plans to use some health information (which could
presumably include genetic information) in underwriting. HIPAA also limits denial
of coverage based on pre-existing conditions to 12 months. In the absence of a
current diagnosis, HIPAA would not include genetic information as a pre-existing
condition. The Civil Rights Act provides some protections against genetic
discrimination against members of a protected group, such as persons of a certain
race, color, religion, sex or national origin.68
The existence and scope of state anti-discrimination legislation that could be
interpreted to explicitly or implicitly cover genetics varies.69 Most laws prohibit: (i)
discrimination based on particular traits or diseases; or (ii) discrimination based on
genetic test results; or (iii) insurers or employers from requiring that an individual
take a genetic test and using the results.70
The proposed legislation before the 109th Congress, S. 306 and H.R. 1227,
would extend current federal protections against discrimination to health insurers in
the individual market, and would further limit the use and disclosure of genetic
information. The bills would also bar insurers from using genetic information or
family history of disease in underwriting for an individual (as an individual or
applied to a group); however, insurers could still use genetic information as it is
For a more detailed discussion of legal issues relating to the use of genetic information,
please see CRS Report RL30006, Genetic Information: Legal Issues Relating to
Discrimination and Privacy, by Nancy Lee Jones and Allison M. Smith.
The danger exists because certain genetic traits and predispositions can have higher
frequencies among individuals of certain ethnic backgrounds. See Title VII of the Civil
Rights Act, as amended by Civil Rights Act of 1991, P.L 102-166, Section 105(a), codified
at 42 U.S.C. § 2000e-3(a); and Norman-Bloodsaw v. Lawrence Berkeley Laboratory, 135
F.3d 1260 (9th Cir. 1998).
State information on privacy at [http://www.ncsl.org/programs/health/genetics/prt.htm]
and employment at [http://www.ncsl.org/programs/health/genetics/ndiscrim.htm]. State
information on insurance is at [http://www.genome.gov/PolicyEthics/LegDatabase/
pubMapSearch.cfm], or [http://www.ncsl.org/programs/health/genetics/ndishlth.htm].
Accessed Mar. 14, 2005.
M.A. Pagnattaro, “Genetic Discrimination and the Workplace: Employee’s Right to
Privacy vs Employer’s Need to Know,” American Business Law Journal, vol. 29 (2001), pp.
excepted from the definition of genetic test for every person enrolled in a group
consistent with current law.71
Opponents of enacting special legislation to prevent potential discrimination
on the basis of genetic information argue that current federal and state protections are
sufficient. However, the current bills that the existing patchwork of state and federal
laws is confusing, and inadequate to protect individuals from discrimination. Many
professional and consumer groups believe that individuals should not be penalized
in their ability to obtain insurance or a job because medical science can identify a
trait, but cannot yet do much to treat it; for example, the American Civil Liberties
Union (ACLU) stated at a hearing in 2001 that “Americans should be judged on their
actual abilities, not their potential disabilities.”72 Supporters argue that without
proper protections, individuals will continue to be afraid to participate in the very
research that would allow scientists to discover treatments or lifestyle modifications
to mitigate the negative or harmful effects of specific genes. Others argue that
because existing federal laws have not been tested in court, the extent of their
protection of genetic information is not clear. None of the existing laws or proposed
bills address life or disability insurance.
How Would the Proposed Legislation Protect
In S. 306 and H.R. 1227 (which are identical), the protections for genetic
information are primarily restrictions on the type of and manner in which genetic
information could been used in determining eligibility for health insurance,
establishing premiums for health insurance, and in making decisions regarding
employment. The protections would apply to information derived from a genetic test
done on individuals or their family members, and to information related to the
occurrence of a disease or disorder in family members of the individual. The bills
would clarify that genetic information would include the fact that an individual (or
his/her family member) had taken a genetic test. The definition of genetic test in the
bills is more restrictive than the medical or scientific definition of genetic test, which
covers both predictive and diagnostic reasons for testing.73 The bills focus on
protecting predictive information (i.e., information about a future or potential health
state in a currently symptom-free individual). Use of genetic information that is
indicative of “manifested disease” is generally permitted in accordance with current
See the next section in this report for more discussion of the scope and types of
information that could be used.
Statement of Ronald Weich, on behalf of the American Civil Liberties Union, for
inclusion in the record of the hearing of the Senate Committee on Health, Education, Labor
and Pensions, July 25, 2001.
For reference, the medical definition of genetic test includes the analysis of human
proteins and certain metabolites, which are predominantly used to detect heritable or
acquired genotypes (reflective of the individual’s DNA), mutations (actual changes in DNA
from the ‘normal’ sequence), or phenotypes (a trait which is visible). This definition covers
both diagnostic and predictive information with respect to current or future health status.
law governing insurance and employment practices. This type of genetic information
could be obtained from a diagnostic test.
Genetic information goes beyond what a test can determine to include family
history and traits that ‘run in a family’ but for which a specific test has not been
developed, is not widely available, or is not related to a disease. The bills stress the
importance of family history. S.Rept. 108-122 for S. 1053 in the 108th Congress
stated that “the committee realizes that family medical history could be used as a
surrogate for a genetic trait by a health plan or health insurance issuer ... it is
important to include family medical history in the definition of genetic information.”
The report further clarified the concept of family medical history as being consistent
with the American Medical Association definition, and expected that the definition
would evolve over time.
The bills restrict protections by limiting the definition of genetic test (see Table
1). They specifically exclude from Title I (health insurance provisions) medical
information that is not genetic information, including the analysis of protein or
metabolites directly related to manifested disease, disorder, or pathological
condition. This exemption is not present in Title II (employment provisions). The
protections apply to predictive, heritable genetic tests that provide information
regarding a future or possible health status of a currently non-affected person. Both
bills prohibit discrimination based on an individual’s predictive test result (e.g.,
BRCA or breast cancer susceptibility), or the fact that a person’s parent had
Huntington’s disease as long as that individual did not manifest the condition. Once
a person becomes symptomatic, information derived from a person’s DNA or RNA
tests would still be protected under the proposed legislation; however, information
derived from a protein or metabolite would be excepted. Health insurers would still
be permitted to use or disclose the individual’s current health status (as determined
without a genetic test), consistent with existing law. The exception is not present in
Title II, as employers are prohibited from using a person’s current health status in
specific ways by existing law.
Table 1. The Definition of Genetic Test and Genetic Information
in Title I and Title II of S. 306 and H.R. 1227
The term “genetic test” means the
analysis of human DNA, RNA,
chromosomes, proteins or
metabolites that detects genotypes,
mutations, or chromosomal
Same as Title I.
“Genetic test” does not mean:
(i) an analysis of proteins or
metabolites that does not detect
genotypes, mutations, or
chromosomal changes; or
(ii) an analysis of proteins or
metabolites that is directly related
to a manifested disease, disorder,
or pathological condition that
could reasonably be detected by a
health care professional with
appropriate training and expertise
in the field of medicine involved.
‘Genetic test’ does not mean an
analysis of proteins or
metabolites that does not detect
genotypes, mutations, or
“Genetic information” means:
information about an
individual’s genetic tests;
(ii) information about genetic
tests of family members of the
information about the
occurrence of a disease or disorder
in family members.
Same as Title I.
“Genetic information” does not
include information about the age
or sex of an individual.
Same as Title I.
One unique aspect of a genetic test result is that the same information can be
both diagnostic and predictive depending on the situation. Consider a person with
cancer. A genetic test of the tumor material provides information about the tumor,
and its likelihood of recurrence. Surgery is performed to remove the tumor. The
patient is in remission. Applying the definition in the bills, the following
interpretations would be possible. The scenarios describe both diagnostic, predictive
and pharmacogenomic applications for protein and DNA tests.
Table 2. Examples of Genetic Testing Scenarios and Protected
Information Under S. 306 and H.R. 1227
S. 306 and H.R. 1227
Test of tumor proteins; information is
diagnostic, the tumor has not been removed.
Not Protected because “analysis is of protein ...
is directly related to a manifested disease.”
Test of tumor DNA; information is diagnostic,
the tumor has not been removed.
Protected, meets basic criteria for genetic test
(only protein or metabolite tests meet exclusion
for manifested disease).
Test of tumor proteins; tumor has been
removed; information indicates the likelihood
of tumor recurrence.
Not Protected if the removed tumor is a
“manifested disease;” Protected if tumor removal
means that the disease is no longer manifested.
Test of tumor DNA; tumor has been removed;
information indicates the likelihood of tumor
Protected, meets basic criteria for genetic test, so
“manifested” is not an issue; limitation only
applies to tests of protein.
Test of tumor protein; information is
response/resistence to therapy.
Not Protected if information about possible drug
response is considered “directly related to
manifested disease;” Protected if not directly
Test of tumor on patient’s DNA; information
is response/resistence to therapy.
Protected, meets basic criteria for genetic test, so
“directly related” is not an issue; (only protein or
metabolite tests meet exclusion for manifested
The definition of what constitutes a manifested disease has important bearing
on the scope of protections of genetic information, particularly after a disease is
“cured” or is in remission. From the example above, if a tumor has not been
removed, test results on tumor proteins that could predict the likelihood that a tumor
would recur may not be protected under the bills because analyses of proteins directly
related to a manifested disease (the tumor) are excluded from the definition of
genetic tests. However, if the same information is gained based on a DNA test, it
would be protected information. Protections are unclear, for example, for
information suggesting a likelihood of recurrence of a tumor that has been surgically
removed. Once removed, would the tumor still be considered to be a manifested
disease? Would genetic information gained from testing the tumor be protected if
it indicated that the development of future tumors or other diseases is likely? By
contrast, if a person underwent a genetic test to determine whether they were
susceptible to adverse reactions from a certain treatment, would their test results be
protected? Would it matter if they had a disease for which the treatment was
indicated? Recall from a previous section, “The Genetic Test Result,” that
pharmacogenetic tests for individual susceptibilities to certain drugs can be
performed at any point in an individual’s life. Information from these tests reveals
normal variability in how different people’s bodies process different medications.
The information is useful when obtained before a particular therapy is considered
(i.e., when an individual does not have a manifested disease). Under the current
definition it is possible that, in the presence of manifested disease, information that
a person would not likely respond to a drug could potentially be used in a negative
manner by health insurers. This concern is especially great if only one treatment
Scope of Coverage: Definition of “Family Members”. The risk of
sharing genetic traits or conditions is greatest to first and second-degree blood
relatives.74 The risk of sharing genes decreases as the blood relationship becomes
more distant. For example, first degree relatives share one-half of their genetic
material, second degree relatives share one-fourth, and third degree relatives (first
cousins), share one-eighth. Fourth cousins, which are ninth degree relatives, share
only 1/512 of their genetic material. At this level of relationship, only very rare
conditions appear more frequently in family members, and the risk of many common
diseases is virtually the same as in the general population.
The proposed legislation defines family members to include distant relatives and
adopted children (which have no blood relationship and therefore would not be
affected by genetic information in the family). Proponents believed that the inclusion
of individuals that have no blood relation (i.e., adoptive children) is necessary to
insure that the family remains insurable as a unit; that adoptive children (or adoptive
parents) are not penalized because one or the other has a genetic trait that they
themselves could not have. Opponents argue that inclusion of distant or non-blood
related individuals further extends the potential for litigation against insurers or
Title I. Health Insurance
The bills propose protections against genetic discrimination by amending the
Employee Retirement Income Security Act of 1974 (ERISA), the Public Health
Service Act (PHSA), and Title XVIII of the Social Security Act (SSA) related to
Medigap.76 The bills do not contain one provision that was in S. 1053 (108th)
A first degree relative is defined as a parent, brother, sister, or child of an individual. A
second degree relative would include grandparents, aunts, uncles, nephews, or nieces
(children of aunts and uncles) of an individual. First cousins (children of brothers and
sisters) are third degree relatives of an individual. Second cousins are fifth degree relatives.
Third cousins are seventh degree relatives. Even degrees, such as fourth and sixth, refer to
different generations, i.e., “first cousins once removed.”
A related question is whether or not information derived from genetic tests performed on
a fetus or parental material from in vitro fertilization procedures (e.g., polar bodies or preimplantation embryos) would be protected, insofar as blood relatives are concerned. Since
predictive testing for adult diseases is not currently recommended in prenatal situations,
presumably the information gained from such testing would be diagnostic for the fetus or
embryo. However, such diagnosis could provide genetic information about parents, siblings
and other blood relatives, which presumably then could be used by health insurers or
employers in making insurance or employment decisions for other individuals in the family.
For a detailed comparison of these bills, see also CRS Report RL32081, Genetic
Nondiscrimination in Insurance and Employment: Side-by-Side Analysis of Leading Bills
of the 108th Congress, by Jean Hearne, Stephen Redhead, and Alison M. Smith. Feb. 2,
amending the Internal Revenue Code of 1986. This provision would have covered
health plans offered by church groups.
Mandatory Testing Prohibited. Both bills would prohibit issuers of group
and individual health insurance from requiring or requesting that individuals or their
family members undergo a genetic test. Both explicitly state that the legislation
would not limit the ability of a health care professional to provide health services
even if they were employed by or affiliated with a group health plan or health
insurance issuer. That is, health care professionals who are providing care may
request or suggest that individuals or their family undergo a test.
Prohibition of Discrimination in Group and Individual Market. Both
bills would prohibit insurers in both the group and individual markets from using
genetic information to determine eligibility or establish differential premiums based
on the genetic information of individuals or their family members.
With regard to prohibition on genetic information as a condition of eligibility,
the proposed amendments to Section 2753 of the PHSA would extend the prohibition
to include continued eligibility of the individual to enroll in individual health
Privacy: Use of Information by Insurers. The bills contain a privacy and
confidentiality section (Section 104) requiring coordination with HIPAA and HHS
privacy regulations. The bills would assure coordination between HHS and the
Department of Labor in implementing additional requirements pertaining to privacy,
insurance and labor. Specifically, a group health plan, health insurance issuer or
issuer of a Medicare supplemental policy would be prohibited from requesting,
requiring, or purchasing genetic information for the purposes of underwriting,
determining eligibility for enrollment (before or during the enrollment process), for
premium rating, or for creating, renewing or replacing a health insurance contract.
“Incidental collection” of genetic information would not be considered a violation,
and the confidentiality standards would not apply to plans or insurance issuers that
are not otherwise covered by HIPAA and the HHS privacy regulations.
Enforcement. The bills would permit the Secretary to impose a penalty of
$100 per day during a period of noncompliance within the terms of Title I. Where
willful neglect is found, they would establish a minimum penalty of $2,500, or
$15,000 for more severe or prolonged violations.
If the proposed legislation becomes law, this title would take effect 18 months
after the date of enactment of the act.
Questions about Title I
In addition to the issues discussed above, the bills raised other questions and
concerns, discussed below.
Flow of Genetic Information in Health Care Operations. Certain
stakeholders affected by the legislation proposed in the 108th suggested that bill
language more clearly differentiate between information that is necessary for health
care professionals (particularly those in group health plans) to carry out the functions
and activities of the practice of medicine, and information that is necessary for the
insurance issuer to carry out the functions and activities of administering the health
plan. Others argue that those functions were explicitly separate (with underwriting
housed within the health insurance issuer function), particularly for large insurers.
One possibility would have been to clarify the conditions under which use of
predictive genetic information would be prohibited (i.e., specifically for the purposes
of underwriting). While both current bills have rules of construction which allow for
the disclosure of information between health care professionals in the context of
providing care, they contain no further stipulations regarding other uses of
information. By contrast, H.R. 1910, introduced in the 108th Congress, would have
permitted disclosure of information to health plan employees for the purposes of
paying claims or determining medical benefit so that those processes were not
Privacy Provisions. Given the HIPAA privacy regulations, some have
questioned whether additional privacy and confidentiality provisions are necessary.
Others argue that while HIPAA addresses what to do with information that has
already been obtained, the proposed bills would address more specifically the
acquisition of information. HIPAA privacy protections are limited to the provision
of medical services, and to the exchange of identifiable patient information during
the context of health care operations, and do not extend outside of those operations
to other groups (such as an employer that sponsors the health plan). The genetic
nondiscrimination legislation would extend the privacy regulations to insurance and
employment functions beyond those associated with the operation of a medical plan
delivering health services. In other words, the bills would clarify the permitted uses
of information as exchanged between plan sponsors (employers) and the group health
Impact on Utilization. Some individuals are concerned that the legislation,
which is intended to increase utilization of health care services and participation in
clinical studies, would actually reduce utilization because of the difficulty imposed
by overly burdensome provision; for example, the requirement to keep genetic
information in a separate file. A separate file requirement would be a provision in
Title II (employment) (below). Thus, the requirement would not apply to groups
covered by Title I (health insurers), even those that are sponsored by employers as
employee benefit packages, and would not affect the use of services within the group
health plan. HIPAA currently requires that confidential medical information be
available only to those that need the information to do their jobs. This group would
include the professionals who determine whether a genetic test or service is
appropriate for an individual, and the administrators who determine medical benefit
and payment. Arguably, the “separate file” concept is to maintain confidential
medical information separate from confidential administrative information (such as
the type that employers keep).
Minimum Penalty. Some have argued that the establishment of a minimum
penalty would increase the incentive for individuals to sue health plans for violations
of privacy or denial of coverage based on genetic information. Furthermore, some
feel that establishing a minimum penalty in particular could act as a disincentive for
settling disagreements. Others argue that the penalty clauses are equivalent to those
in other civil rights legislation. They pointed out that appropriate penalties are
necessary to deter discriminatory practice.
Title II. Employment
Both bills would cover the employers and employees as defined in Sections 701
and 717 of the Civil Rights Act of 1964, state employees and employers described
in the Government Employee Rights Act of 1991, employees and employers
described in the Congressional Accountability Act of 1995 and as defined in Section
3 U.S.C. 411(c), and job applicants.
Mandatory Testing Prohibited. Both bills would prohibit employers,
employment agencies and labor organizations from requiring or requesting that an
individual or a family member undergo a genetic test. Both stipulate that nothing in
them would limit the ability of a professional to provide health services; that is,
health care professionals who are providing care may request or suggest that
individuals or their family members undergo testing in the context of providing care.
Discrimination in Employment Practices Prohibited. Both bills would
prohibit discrimination by employers, employment agencies, and labor organizations
against an employee or job applicant in making hiring or promotion decisions and in
determining eligibility or selection for participation in training programs or
apprenticeships on the basis of genetic information.
Acquisition of Genetic Information by Employers. Generally, both bills
would prohibit employers, employment agencies, and labor organizations from
requesting, requiring or purchasing genetic information. They would allow
employers, employment agencies and labor organizations) to acquire genetic
information about an individual in the following circumstances:
when they offer a health service program;
when the employee provides written authorization;
when the information is used to monitor the biological effects of
substances in the workplace, but only if:
— the employer provides written notice of genetic monitoring;
— the employee provides written authorization;
— the genetic monitoring is required by federal or state law;
— the employee is informed of the monitoring results;
— the monitoring is conducted in compliance with federal genetic
monitoring regulations; and
— the identity of specific employees is not disclosed.
In addition, the proposed bills would allow an employer to obtain genetic
information in the following situations:
when the employer inadvertently requests or requires family medical
when the employer offers health or genetic services, and the
individual provides authorization;
when the identity of specific employees is not disclosed;
when the employer requests information to comply with Section 103
of the Family and Medical Leave Act;
when the employer purchases publically available documents that
may include family medical histories (books, magazines, etc).
Privacy: Use of Genetic Information by Employers. Both bills would
treat genetic information as part of the individual’s confidential medical record, and
require the employer to maintain separate forms or files for genetic information if
they obtain it. Disclosure of information would be prohibited except when disclosure
to the individual or employee at their request (including family
members if family members are receiving services);
to an occupational or other health researcher in compliance with 45
CFR Part 46;77
in response to a court order when the employer has given the
employee notice and sufficient time to challenge the order;
to government officials investigating compliance with Title II.
Limitations on disclosure would apply to the employer, employment agency,
labor organization and labor-management committee.
With regard to disclosure under a court order, the bills would limit disclosure
to only the genetic information specifically authorized in the order, and would
include an exception on disclosure made in connection to an employee’s compliance
with certification provisions of Section 103 of the Family and Medical Leave Act.
Enforcement. Both specify that the proposed new legislation would not limit
employees’ rights or protections under the ADA or Rehabilitation Act of 1973 or any
other federal or state statutes. Neither bill would have applied to the Armed Forces
Repository of Specimen Samples for the Identification of Remains. Both would
create penalties for violation of the nondiscrimination legislation though the specific
The proposed legislation would establish a Commission to review the science
of genetics and make recommendations on whether the “disparate impact” is
necessary to continue to protect individuals from situations where an employer (with
no discriminatory intent) unwittingly violates the law, and as a result,
disproportionate adverse effects are experienced by some individuals with certain
45 C.F.R. Part 46 contains the Department of Health and Human Service’s regulations
governing the protection of human subjects in research. It is also known as the “Common
Rule” because 17 other federal agencies have adopted the rule. Only FDA regulations are
different based on the differences between HHS and FDA statutory authority over clinical
investigations. FDA’s research subject protections can be found in 21 C.F.R. Parts 50 and
If the proposed legislation becomes law, this title will take effect 18 months
after the date of enactment of the act. If the House bill became law, this title would
have taken effect on October 1, 2005.
Questions about Title II
In addition to the issues discussed above, the bills raised other questions and
concerns, discussed below.
The Group Health Plan and the Employer. Some have argued that the
legislation is not clear on how and when information could flow between the
employer and the group health plan that is offered as a privilege of employment, and
that the lack of clarity further confuses the HIPAA privacy issue. HIPAA protections
apply to employee benefit plans with more than 50 participants when the plan
provides medical care to employees or their dependents either directly or through
insurance, regardless of whether they are insured or self-insured plans. The privacy
rule includes group health plans, even those where the employer simply pays an
insurer to administer benefits. It does not, however, regulate the employers who
sponsor the group health plan (unless the employer is a health plan, or acts to provide
on-site medical benefits). Thus, if health plans disclose health information to the
plan sponsor, the information no longer would be protected by the privacy rule. As
a result, the privacy regulations state that the group health plan portion of an
employer may not disclose identifiable protected health information to the non-health
plan portion of the employer without proper documentation and restrictions.78 These
protections do not apply to summary information or de-identified information.
In the past, opponents argued that genetic nondiscrimination bills, including the
108th’s S. 1053 that is practically identical to S. 306 and H.R. 1227 in the 109th, did
not adequately clarify the restrictions on disclosure of genetic information between
functional units of the workplace (e.g., those that are providing employee welfare
programs, such as cholesterol screening, and others such as the human resources
department). Supporters indicated that the bills did not change the foundation of
protections established by HIPAA and the privacy rule. Instead, the net affect of the
proposed legislation would be to build upon that foundation, to clarify the role of
genetic information in the context of other health information, and to establish
specific protections for genetic information for entities that are not described by
HIPAA (e.g, plan sponsors).
Create Incentive for Litigation. Some argue that provisions to permit
individuals to sue without first filing a complaint with the EEOC coupled with the
absence of a cap on compensatory and punitive damages would only stimulate and
encouraged litigation.79 As with Title I, others indicate that penalties are both
A.W. Brooks, “What HIPAA’s Privacy Regs Mean for Employers and Group Health
Plans,” Illinois State Bar Association, Apr. 2003, [http://www.holmstromlaw.com/
Letter from J.C. McGuiness, President, to LPA Primary Reps, LPA Washington Reps and
the LPA Labor Law Group, “A Solution in Search of a Problem: Congress Considering
consistent with remedies under existing civil rights legislation (e.g., ADA) and are
necessary to assure compliance with the provisions.
Public vs. Individual Risk. Some argue that the bills are not clear about
situations in which individuals have the right to put themselves at risk of harm or ill
health, even if genetic test indicates possibility for illness with exposure, and when
the employer would have the right to deny employment on the basis that the
individual’s genetic condition could place others in danger. Others state that it is
unfair to deny healthy people opportunities when only a possibility of becoming ill
exists. Even if it could be known that they would definitely become ill (as in the case
with Huntington’s Disease), when the illness would manifest to the point of
preventing the employee from doing job remains uncertain. OSHA currently has
guidelines for monitoring for genetic changes associated with exposure in the
workplace and susceptibility to exposure (29 C.F.R. Part 1910).
Sunset Clause. Some opponents argue that any genetic nondiscrimination
legislation should have an expiration date to enable public policy to keep pace with
scientific advances and allow Congress to decide how effectively the law has worked.
This type of sunset clause is unprecedented in civil rights legislation; there is only
one example of civil rights legislation that has an expiratory term.80 Supporters of
nondiscrimination legislation point out that Congress always reserves the right to
evaluate the effectiveness of laws and make modifications as deemed necessary.
Further, they do no believe that discrimination issues will go away in the near term.
For example, a sunset provision may not protect a fetus, neonate or child tested today
who would be seeking employment and insurance in the future.
Separate Medical Files. Some have argued that requiring maintenance of
genetic information in separate files increases potential for medical error. Because
the language states that the requirement applies only to employers, the risk of medical
error would only increase if Title II could be construed to include group health plans
administering employer-sponsored benefits. No federal or state law has a separate
file requirement for group health plans acting to provide medical services, even
though some studies show some physicians and genetic professionals are already
keeping separate files in the absence of protecting legislation.81 In fact, Executive
Order 13145 (65 FR 6877) already requires federal agencies, acting as employers, to
maintain genetic information as part of their “confidential medical records which
must be kept apart from personnel files.”
Legislation to Ban Nonexistent Genetic Discrimination,” June 4, 2003.
There are provisions in the 1965 Voting Rights Act which must be periodically extended.
For example, Section 203 requires bilingual voting services in certain states and political
subdivisions with significant numbers of non-English speaking citizens. This was last
amended in 1992 to expire 15 years later, in 2007; see 42 U.S.C. 1973aa-1a. Personal
communication with Charles Dale, Congressional Research Service, American Law
Division, May 13, 2004.
M.A. Hall and S.S. Rich, “Genetic privacy laws and patients’ fear of discrimination by
health insurers: the view from genetic counselors,” J Law, Med and Ethics, vol. 28, no. 3,
fall 2000, pp. 245-257.
Safe Harbor. Because states vary widely in their approaches to genetic
nondiscrimination legislation, opponents of federal legislation propose that bills
should include a “safe harbor” protection whereby employers that abide by the
federal legislation are protected from violations of state or local law. The current
bills propose a ‘floor’ for non-discrimination. This means that states with no
discrimination provisions would have to meet federal standards; however, the federal
law would not pre-empt more comprehensive state legislation.
Glossary of Terms and Acronyms
ADA Americans with Disabilities Act (P.L.101-336)., 42 U.S.C. Section 12101 et
Allele The specific version of a gene that is located on a chromosome. Normally,
individuals will have two alleles for each gene, one located on each chromosome in
Amino acid The building blocks of protein.
Aneuploidy Abnormal number chromosomes; a number of chromosomes other than
46 for humans. Examples: Down syndrome (47 chromosomes due to the extra
chromosome 21), Turner syndrome (45 chromosomes due to a missing sex
chromosome), or triploidy (69 chromosomes — a complete extra set of 23).
Autosome The 22 pairs of chromosomes that are the same in both males and
Base Nucleic acid building blocks of DNA. There are four different bases: adenine
(A), thymine (T), guanine (G) and cytosine (C).
Carrier A person who has one recessive gene for a disease, condition or trait that
is hidden by second dominant gene. A carrier usually does not show any signs of the
disease, condition or trait. For example, a person who has cystic fibrosis has two
copies of a disease-related gene. A person with only one copy of the disease gene
would be a carrier of CF and would not show signs or symptoms of the disease.
Chromosome A long stretch of DNA that contains genes and other information.
Humans have 46 chromosomes, which arrange during cell division in pairs of two
(23 sets). During reproduction, each parent contributes one set of 23 chromosomes
to their offspring.
Chromosome abnormality A chromosome abnormality can refer to an abnormal
number of chromosomes (aneupoloidy) or abnormal structure (includes
translocations). In a clinically evident chromosome abnormality, large pieces of the
chromosome are typically lost or duplicated.
CLIA Clinical Laboratory Improvement Act (P.L. 100-578).
Clinical sensitivity The proportion of times a test result is positive when a disease,
condition or trait is present.
Clinical specificity The proportion of times a test result is negative when a disease,
condition, or trait is absent.
Co-Dominant Different (heterozygous) traits or alleles that are expressed (or are
apparent) at the same time (i.e., blood type (AB)).
DOE United States Department of Energy.
Dominant A trait that is expressed or apparent when only one copy of the gene is
DNA Deoxyribonucleic acid; a large, double-stranded nucleic acid molecule
arranged like a staircase (double helix); the chemical substance of which genes are
Enzyme A special kind of protein that can cause biochemical reactions to occur.
ERISA Employment Retirement Income Security Act (P.L. 93-406).
False Negative A test result that is negative when a disease, condition or trait is
False Positive A test result that is positive when a disease, condition or trait is
Family history A record of diseases, conditions, or traits in a nuclear (parents,
children) or extended (grandparents, aunts, uncles, cousins, etc.) family.
FDA United States Food and Drug Administration.
Gene A stretch of DNA that carries information from one generation to the next and
codes for a specific protein.
Gene chip technology A form of genetic analysis in which many hundreds or
thousands of genes, parts of genes, or gene products can be analyzed simultaneously
(see also multiplex testing). Gene chips typically have detection reagents (material
that will pull out the gene, gene part, or gene product from a sample of interest) fixed
to a solid surface, like a glass slide.
Gene product Heritable information carried by genes. A gene, composed of DNA,
is transcribed into RNA which is translated into a protein. Both the RNA and protein
are gene products.
Genetic Marker A piece of DNA, RNA, protein or other genetic material that has
an association with a disease, condition or trait (phenotype) of interest.
Genetic variation The variation in a population’s phenotype (appearance) that is
caused by differences in the genotype (specific genes). The DNA base sequence of
human genes is about 99.9% identical among individuals. Approximately one of
every 1,000 DNA bases varies among individuals, accounting for inherited
differences in traits and disease susceptibility.
Genome The entire complement of genetic material in a cell; including genes and
Genotype The specific alleles (forms of genes) in a cell. For example, everyone has
a gene(s) for eye color. The genotype would be the specific alleles that resulted in
a particular phenotype like blue eyes.
Haplotype Genes that are close to each other on a chromosome so that they are
usually inherited in a group.
Heterozygous When the alleles (forms of a gene) on both chromosomes (one
inherited from mother, one from father) are different.
HHS United States Department of Health and Human Services.
HIPAA Health Insurance Portability and Accountability Act (P.L. 101-191).
Homebrew test A diagnostic test that a clinical laboratory makes itself. The
laboratory produces the reagents, devises the testing procedure and validates the test
to see that it works properly. By contrast, a test kit is made by a manufacturer. A kit
is a combination of reagents and procedures that the manufacturer sells together in
a convenient package for laboratories to use.
Homozygous When the alleles (forms of a gene) on both chromosomes (one
inherited from mother, one inherited from father) are the same.
Incomplete penetrance The state that occurs when a person has a gene associated
with a disease, condition or trait, but does not express the symptoms of the disease
or condition nor has visible evidence of the trait.
Karyotyping A laboratory method in which cells in culture are grown to a certain
point in their development. Cells are dropped onto a slide and “squashed”, forcing
the condensed chromosomes to spread out over the slide. Chromosomes are stained
with a special dye and analyzed for shape, structure and number.
Metabolic disorder A disease or disorder of metabolism, the biochemical processes
that occur in cells. Metabolic disorders usually result from the mutation of genes that
tell the body to produce or not to a protein, or cause the protein to malfunction.
Metabolite Something that is needed for or produced by metabolism (the
biochemical processes of cells). One example: drugs are taken to treat a condition.
In the body, the drug is broken down (metabolized) into smaller molecules by
proteins called enzymes. Both the drug (also known as a substrate), and the
molecules are metabolites. These molecules can be measured to provide information
about the efficiency of the process, which is in part determined by the proteins and
by the genes that code for the proteins.
Multiplex testing Testing for many genetic markers at the same time. One
example, would be gene chip technology.
Mutation In contrast to a chromosome abnormality, a mutation is an individual
change in a DNA sequence that accounts for genetic variations. Mutations may be
harmful if they prevent genes from making normal gene products. These mutations
can cause, or increase susceptibility to, specific diseases or conditions. A mutation
can be inherited from a person’s parents, or acquired from exposure to a toxic
Pharmacogenetic Variations that are inherited in a person’s DNA that are
associated with how that individual’s body reacts to drugs. Studies in
pharmacogenetics generally look for markers that will predict whether an individual
will have an adverse reaction to a drug, but can also investigate other aspects of drug
Pharmacogenomic The entire complement of gene products that are expressed in
association with an individual’s reaction to specific drugs.
pharmacogenomics investigate many aspects of the drug metabolism process; and
many focus on identifying patterns of gene product expression that change in
response to drug treatment, and whether those changes indicate that the drug is
Phenotype Observable characteristics (appearance) of an individual that are
determined by the interaction of genes, gene products and the environment.
Phenotypic testing identifies genetic variation by looking at the structure or function
of a gene products rather than looking directly at the gene.
PHSA Public Health Security Act (P.L. 78-410).
Positive predictive value The proportion of times an individual has (or gets) a
disease, condition or trait, given that he or she had a positive test result.
Preimplantation diagnosis A testing procedure performed on human eggs, sperm
or embryos before implantation in the uterus to determine whether or not certain
genetic disease, conditions, or traits are present.
Prenatal diagnosis A testing procedure done on cells that are shed from a
developing fetus, usually between the third and fourth month of pregnancy, to
determine if the fetus has a genetic disease, condition or trait.
Protein A string of amino acids that form a three-dimensional structure to carry out
the functions of a cell. Proteins can be structural (give the cell shape), regulatory (act
to turn genes “on or off”), or enzymatic (cause biochemical reactions to occur).
Predictive genetic information A genetic marker (or test) that determines whether
or not a person will develop a disease, condition, or trait sometime in the future.
Recessive disorder A disorder that does not manifest (exhibit symptoms) unless
both copies of a gene (allele) have a mutation.
RNA Ribonucleic acid; a single stranded nucleic acid molecule that carries genetic
information from DNA to build a protein.
SACGT Secretary’s Advisory Committee on Genetic Testing (Advisory Committee
to the U.S. Department of Health and Human Services).
Sex chromosome Chromosomes that determine gender; females have two X
chromosomes, males have an X and a Y.
Single gene disorder Relatively rare diseases that result from an abnormality in
one gene, which usually alters the structure or function of a protein. The
abnormality can be a mutation that changes the sequence of the DNA, an inversion
(genetic material flipped around in reverse order), a deletion (loss of genetic
material), or an insertion (addition of genetic material). Examples of single-gene
diseases caused by each type of abnormality respectively are: sickle cell disease,
hemophilia A, Duchenne muscular dystrophy, and some forms of Tay Sachs disease.
Susceptibility A possibility of disease caused or influenced by a genotype. Most
diseases result from a complex set of both genetic and environmental causes. Some
harmful gene mutations increase the likelihood that a person will develop a specific
Transcription The process by which a DNA sequence is converted to RNA.
Translation The process by which RNA is decoded to produce a protein.
Translocation Rearrangement of a chromosome, which occurs during cell division,
in which a piece of one chromosome breaks off. If the piece is lost, the
translocation is unbalanced. If the piece combines with a different chromosome, the
translocation is balanced (because no genetic material is lost).
Variable expressivity The possible range of symptoms or characteristics
(extremely mild to very severe) that can occur due to the presence or absence of a
gene. At this time, geneticists cannot predict the severity of many illness simply by
looking at genetic markers.
Variation See genetic variation.