Genetic Discrimination: Overview of the Issue and Proposed Legislation
Overview of the Issue and Proposed Legislation
Updated April 25, 2008
Amanda K. Sarata
Analyst in Genetics
Domestic Social Policy Division
Erin D. Williams
Specialist in Bioethical Policy
Domestic Social Policy Division
Overview of the Issue and Proposed Legislation
A key policy issue before Congress is whether the potential for genetic
discrimination by employers and insurers merits protections for genetic information
that are more extensive than those already in place for health information. For the
stated purpose of prohibiting discrimination on the basis of genetic information with
respect to health insurance and employment, the Genetic Information
Nondiscrimination Act of 2007 (H.R. 493) was introduced in the House on January
16, 2007 and was passed by the House on April 25, 2007. On January 22, 2007, the
act was introduced in the Senate (S. 358) and was reported favorably out of the HELP
Committee on March 29, 2007. On April 24, 2008, the Senate took up H.R. 493,
replaced the existing language with an amendment in the nature of a substitute, and
passed the measure, as amended, by a vote of 95-0. H.R. 493, as amended and
passed by the Senate, is very similar to the version passed by the House last year.
The most significant difference is new language strengthening the “firewall” between
Title I and Title II of the act.
Genetic nondiscrimination legislation is 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. Supporters of
the legislation further contend that without protection, individuals are hesitant to seek
potentially beneficial genetic services or participate in much needed clinical research.
Opponents believe that current law provides 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 are now focusing on the development of clinical applications
based on the sequence information. One such application, clinical genetic testing,
is becoming available at a rapid rate, and some tests are beginning to be included in
health insurance benefits packages. Genetic testing may both facilitate and be
inhibited by the potential for genetic discrimination. Issues surrounding
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 evidence exists to suggest that discrimination is a problem?
!Would the proposed legislation be sufficient to protect “genetic
information” and “genetic tests” that are of concern?
In troduction ......................................................1
Use of Genetic and Other Health Information by Health Insurers.........5
The Problem of Adverse Selection............................7
Use of Genetic and Other Health Information by Employers............7
Is Genetic Information Different from Other Health Information?........9
What Evidence Is There That Genetic Discrimination Exists?..............10
Cases of Genetic Discrimination.................................10
Genetic Testing by Employers...................................12
Surveys of Employers.....................................13
Surveys of Consumers.....................................14
Court Cases and Legal Settlements...........................14
Impact of the Fear of Discrimination on Behavior.......................15
Examples of the Impact of Fear of Discrimination on Behavior.........16
The Role of Genetic Counseling.................................18
The Genetic Information Nondiscrimination Act of 2007 (S. 358/H.R. 493)...19
Title I: Genetic Nondiscrimination and Health Insurance.............19
Genetic Testing Requirements Prohibited......................20
Use and Disclosure of Genetic Information Restricted............20
Health Insurance Discrimination Disallowed...................20
Penalties for Violations Permitted............................21
Title II: Genetic Nondiscrimination and Employment................21
Genetic Testing Requirements Prohibited......................21
Discrimination in Employment Practices Disallowed.............21
Acquisition of Genetic Information Restricted..................21
Management of Genetic Information Specified..................22
Study of Violations Required................................22
Selected Legislative Issues......................................23
Privacy Rule Background..................................23
Title I: Is the Privacy Rule Sufficient to Protect Consumers?......23
Titles I and II: Would Legislation Actually Increase Utilization?....24
Title I: Would the Minimum Penalty Encourage Frivolous
Title II: Do the Bills Specify How Information May Flow Between
a Group Health Plan and an Employer?...................24
Title II: Would the Bills Create an Incentive for Suing Employers?.25
Title II: Do the Bills Strike the Right Balance Between Public
and Individual Risk?..................................25
Title II: Should the Bills have a Sunset Clause?.................25
Title II: Should the Bills Require Separate Medical Files?........26
Title II: Should the Bills Create a Safe Harbor?.................26
Title I and Title II: How Do S. 358 and H.R. 493 Protect Genetic
Family Medical History....................................27
Differences Between Title I and Title II.......................28
Title I, Predictive vs. Manifested Disease Information and Type
List of Tables
Table 1. The Definition of Genetic Test and Genetic Information in Title I and
Title II of S. 358 and H.R. 493...................................29
Table 2. Examples of Genetic Testing Scenarios and Protected Information
Under S. 358 and H.R. 493.....................................31
Genetic Discrimination: Overview
of the Issue and Proposed Legislation
In order for Congress to address the key issue that it faces with respect to genetic
discrimination, namely, whether the potential for genetic discrimination by employers
and insurers merits protections for genetic information that are more extensive than
those already in place for health information in general, there are several fundamental
points that it may wish to consider. These include an understanding of what genetic
information and discrimination are, how current laws affect employers’ and insurers’
use of genetic and other health information, how proposed legislation would amend
current law, and the arguments that have been made both in favor of and against the
passage of legislation.
Properly defining genetic information in potential nondiscrimination legislation
is essential, as the scope of the definition will largely determine the types of activities
that are permitted and proscribed. Yet this basic concept may prove to be complex,
as many types of health information have a genetic component. Genetic information
may be defined and derived in a number of ways. Of course, it may be obtained via
genetic testing. However, it may also be discernable through other laboratory testing
that does not involve a specific examination of genes, such as some protein or
molecular testing. It may sometimes be derived through physical examination (for
example, Down’s syndrome, which has a genetic basis, has specific physical
characteristics such as a single crease across each palm). Finally, genetic information
may be discernable from a family’s medical history, which might reveal risks for
certain types of cancer, hypertension, and a myriad of other diseases with a genetic
Once the definition of genetic information is settled, the question of what
constitutes discrimination based on that information can be addressed. In the context
of the current debate in Congress, genetic discrimination can be defined as the
potential use of an individual’s genetic information by employers or health insurers
to discriminate against that individual in employment decisions (hiring, promotions,
firing) or health insurance coverage decisions (eligibility or premiums). Although
the use of health information, including genetic information, by employers and
insurers is currently regulated, some argue that genetic information merits special
protections under the law.
Three federal laws and a presidential order touch on the issues raised by the use
of genetic information: the Americans with Disabilities Act (ADA); Title VII of the
Civil Rights Act of 1963; the Health Insurance Portability and Accountability Act
(HIPAA); and Executive Order 13145, To Prohibit Discrimination in Federal
Employment Based on Genetic Information (65 FR 6877).1 The ADA protects people
from discrimination based on existing disability, history of disability, and perception
of disability in employment. The executive order prohibits discrimination against
federal employees based on protected genetic information, or information about a
request for or the receipt of genetic services.
In general, the HIPAA statute limits denial of coverage based on pre-existing
conditions to 12 months. In the absence of a current diagnosis, the HIPAA statute
would not consider predictions of risk of future disease based on genetic information
to be a pre-existing condition. In addition, the health information privacy rule, issued
in 2000 pursuant to HIPAA’s Administrative Simplification provisions, restricts the
disclosure of health information, including genetic information, by group and
individual health plans. The HIPAA privacy rule also allows group and individual
health plans to use some health information (which could include genetic
information) in underwriting. 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.2
The existence and scope of state anti-discrimination legislation that could be
interpreted to cover genetics varies.3 Most state laws prohibit: (i) discrimination
based on particular traits or diseases; (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.4
Legislation reintroduced in the 110th Congress (S. 358/H.R. 493) 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).5
1 For a more detailed discussion of legal issues relating to the use of genetic information, see
CRS Report RL30006, Genetic Information: Legal Issues Relating to Discrimination and
Privacy, by Nancy Lee Jones and Amanda K. Sarata.
2 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, 135th
F.3d 1260 (9 Cir. 1998).
3 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/pubMap
Search.cfm], and [http://www.ncsl.org/programs/health/genetics/ndishlth.htm].
4 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.
5 See the next section of this report for more discussion of the scope and types of
information that could be used.
S. 358 and H.R. 493 would 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 were
obtained, the bills would require that it be treated as part of a confidential medical
record. The bills include 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.). Neither bill addresses life or
Genetic nondiscrimination legislation has been debated since the 103rd
Congress.6 Since that time, many of the arguments and positions supporting and
opposing genetic nondiscrimination legislation have remained largely unchanged.
On January 18, 2007, President Bush called on Congress to pass bipartisan genetic
nondiscrimination legislation.7 Genetic nondiscrimination legislation is supported
by consumer groups, the medical profession, researchers and the medical products
industry (including pharmaceutical companies). Opposition to genetic
nondiscrimination legislation has come from some members of the insurance industry
and from employers, represented broadly by the Genetic Information
Nondiscrimination in Employment (GINE) Coalition,8 which includes the U.S.
Chamber of Commerce.
Supporters of the legislation argue that current laws are not clear on protection
from discrimination based on genetic information; because existing federal laws have
not been tested in court, the extent of their protection of genetic information is not
assured. Despite the fact that few cases of genetic discrimination can be documented,
supporters argue that proper protections are necessary to allay the fears of individuals
about the potential for discriminatory practices. Allaying the public’s fears, they
argue, will encourage individuals to seek beneficial health services, participate in
much-needed clinical research, and otherwise reap the benefits of the publicly funded
Human Genome Project (HGP).
Many professional and consumer groups argue that individuals should not be
penalized in their ability to obtain insurance or a job because medical science can
identify a genetic condition or a gene that predisposes a person to a future illness, but
6 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.
7 Sheryl Gay Stolberg. “President Calls for Genetic Privacy Bill,” at [http://www.nytimes.
com/ 2007/01/18/washingt on/18privacy.html ?_r=1&ref=health&oref=slogin#].
8 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 nondiscrimination in employment.
cannot yet offer an effective treatment. 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.”9 On the other hand, this may create
a disparity between people whose medical conditions have treatments available and
those whose do not.
Opponents of enacting special legislation to prevent potential discrimination on
the basis of genetic information argue that current federal and state protections are
sufficient. The insurance industry also argues that additional regulation would be
confusing, unnecessary and costly. They claim that it would be 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 (now
a part of the America’s Health Insurance Plans), support the premise of federal
nondiscrimination legislation and have indicated support for legislation that is
consistent with their principles.10 However, others would further limit the definition
of genetic information.11 One bill introduced in the 108th Congress (H.R. 3636)
would have prohibited health insurers from discriminating 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.
Some employers question whether legislation is necessary because there are few
documented cases of discrimination based on genetic information, and there is no
evidence that employers would use the information if they had it. In addition,
employers argue that existing law provides adequate protection against genetic
discrimination in employment. Randy Johnson, vice president of the U.S. Chamber
of Commerce’s office of labor policy, stated 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.”12 Other business coalition members
suggest that the definition of “family member” should be revised to include only
immediate family. Many also support federal preemption whereby any new federal
law would preempt existing state law in this area.
9 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.
10 Statement of the American Association of Health Plans Board of Directors, “Health Plan
Principles Guide Policies Toward Genetic Testing and Treatments,” October 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].
11 National Association of Health Underwriters, Position on Genetic Testing, at
12 David Hess, “Genetic Discrimination Bill Stalls in House,” Congress Daily, April 20,
This report provides an overview of the scope and current permissible uses of
health information and genetic information. It reviews the existing evidence of
genetic discrimination and the impact of the fear of discrimination. Then it provides
a more detailed discussion of S. 358/H.R. 493 and the key issues raised by the genetic
For a more detailed discussion of genetic testing and public policy, see CRS
Report RL33832, Genetic Testing: Scientific Background for Policymakers, by
Amanda K. Sarata.
Understanding how health information is currently used and regulated provides
a framework for discussion about whether extra protections are necessary for genetic
information, and if so, which protections are most appropriate. Health information,
which includes genetic information, is currently used by health insurers and
employers. It is often presumed confidential, but increasing capabilities to store and
rapidly transfer data electronically escalate the challenge of protecting privacy. Both
the ways in which health insurers and employers use and are restricted from using
health information are discussed in the sections that follow.
Use of Genetic and Other Health Information
by Health Insurers
Several federal laws help provide some protection against genetic discrimination
in health insurance. These laws include the Health Insurance Portability and
Accountability Act (HIPAA) of 1996 (specifically Title I: Health Care Access,
Portability, and Renewability); the Social Security Act (SSA); and the HIPAA
privacy rule. HIPAA prohibits group health plans from imposing a preexisting
condition exclusion on the basis of genetic information or establishing eligibility
requirements for any individual based on genetic information. However, HIPAA
does not prohibit a group health plan from charging all members of a group higher
premiums on the basis of an individual’s genetic information. The SSA contains
provisions that prohibit discrimination in the pricing or issuance of Medigap policies
on the basis of health status.13 However, those protections generally expire six
months after a person becomes eligible for Medigap, and they do not expressly
extend to genetic information. In addition, the SSA does not currently prohibit an
issuer of a Medicare supplemental policy from requesting or requiring genetic testing.
The privacy rule gives patients the right of access to their medical information
and places certain limitations on when and how health plans and health care
providers may use and disclose medical information. Generally, plans may use and
disclose information for their own treatment, payment, and health care operations
13 For more information about Medigap plans and regulation, see CRS Report RL31223,
Medicare: Supplementary ‘Medigap’ Coverage, by Jennifer O’Sullivan.
without the individual’s authorization and with few restrictions. The rule covers all
individually identifiable health information, including genetic tests and information
about an individual’s family history. The rule permits a group health plan to disclose
individually identifiable health information to an employer that sponsors the plan,
provided the information is used only for plan administration purposes.
Health insurers typically use family history, among many health factors, in the
process of placing individuals or groups in a risk category for determining their
premiums (underwriting). Individuals or groups at higher risk may be 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 group
members, 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 among 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 coverage, seeking to purchase individual
health insurance, must bear the entire premium increase associated with any illness,
thus making such insurance prohibitively expensive for many sick individuals.
Insurers claim that most genetic information is not currently useful to the
underwriting process because the clinical significance and relationship to the severity
of illness is not known for many conditions. However, once the link to future illness
is established and the costs thereof become predictable, insurers’ use of genetic
information might be no different than the use of other diagnostic information.
Some actuaries agree that adding diagnostic information significantly improves the
power of traditional underwriting methods to predict future medical expense.14
One author has provided a model demonstrating how genetic information
(including family history) that has a known correlation to a specific disease, such as
Huntington’s disease or breast cancer, could be used to underwrite life insurance.15
Some health care providers and consumers fear that the model could also be applied
to health insurance. The model’s author suggests that insurers support screening for
genetic 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). In
addition, health insurers may be reluctant to bear the costs of preventive care.
Particularly in a climate in which individuals change health insurers frequently, an
14 R.J. Ellis et al., “Applying Diagnosis-Based Predictive Models to Group Underwriting,”
Society of Actuaries Health Section News, no. 46 (August 2003), pp. 1, 4-7.
15 J.A. Lowden, “Underwriting Lethal Genetic Diseases,” Journal of Insurance Medicine,
vol. 30, no. 1 (1998), pp. 5-11.
insurer that pays for prevention may not ultimately reap the financial benefits of
avoiding the illness.
The Problem of Adverse Selection. The predictive power of genetic
testing raises a concern for insurers about the possibility of adverse selection.
Adverse selection can occur when an insurance applicant knows — and the insurance
company does not know — that the applicant has some health risk, possibly due to
genetic information. In this case, the applicant may be motivated to purchase
insurance with greater coverage and may be able to do so at a lesser premium.
Some argue that the specter of adverse selection requires that insurance
companies have access to genetic information, or else their financial solvency may
be threatened because individuals might obtain insurance at premiums that did not
accurately reflect their risk of expenditures.16 Others argue that concerns about
adverse selection with respect to genetic information may be unfounded. The
majority of Americans receive their insurance through their employers, which are
group rated (i.e., premiums are based on an assessment of the average risk among all
employees). This system creates incentives for low-risk individuals to purchase
coverage, thus diminishing the potential impact of adverse selection. In addition,
some note that genetic information about disease risk may prove to be so complicated17
as to be essentially useless to an insurer. For example, for a complex multigenic
disease, there may be numerous genes involved, each of which contributes relatively
little to an individual’s risk of developing disease. In addition, these variants will be
modified by environmental factors that further complicate the analysis.
Use of Genetic and Other Health Information by Employers
One federal law, the Americans with Disabilities Act (ADA), may provide some
protections against employers’ use of employees’ genetic information. The 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. However, current law permits employers 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. Employers may also 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.18
16 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, September 12, 2002.
17 J.V. Jacobi, “Genes and Disability: Defining Health and the Goals of Medicine: Genetic
Discrimination in a Time of False Hopes,” 30 Florida State University Law Review 363,
18 Remarks of Paul Miller, Commissioner of the EEOC, “Analyzing Genetic Discrimination
in the Workplace,” at the EINSHAC International Working Conversation on
Supporters of genetic nondiscrimination legislation argue that because ADA
does not explicitly address genetics, the ADA protections that would be applied by
the court system are not clear.19 Opponents argue that the ADA protections are
sufficient, and that the proposed 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.
Another federal law, the Occupational Safety and Hazard Act (OSHA), may
permit employers to conduct some genetic tests on employees. 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 allow for
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.21 For example, monitoring may be used to determine
if an employee is developing DNA damage from being exposed to asbestos. On the
other hand, a different type of test could potentially determine if the employee were
more susceptible to asbestos damage to begin with. The distinction may be relevant
should questions arise regarding whether any ill-health effects sustained by the
worker were a result of occupational exposure.
As noted in the introduction, the definition of genetic information is a key issue
for Congress in its consideration of genetic nondiscrimination legislation, because
the broader the definition the more expansive the prohibitions on discrimination. The
definition of genetic information varies among sources. Genetic information 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. The two key sources
of genetic information are family medical histories and genetic test results.
Enviro/Genetics Disputes and Issues, July 2001.
19 For a more detailed discussion of legal issues relating to the use of genetic information,
see CRS Report RL30006, Genetic Information: Legal Issues Relating to Discrimination
and Privacy, by Nancy L. Jones and Alison M. Smith.
20 29 C.F.R. Part 1910.
21 P.G. Epps, “Policy Before Practice: Genetic Discrimination Reviewed,” American Journal
of Pharmacogenomics, vol. 3, no. 6, 2003, pp. 405-418.
Is Genetic Information Different
from Other 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. Congress faces two questions on this topic. First, is
genetic information different from other health information? Second, if so, do the
differences indicate that genetic information merits additional protections?
Genetic information has been described as being different from other health
information because of factors such as its stability, its unique predictive qualities, its
potential use for individual and familial identification, and the impact that public fear
of discrimination is having on the behavior of patients and healthcare providers.
Some argue that these factors may make the misuse of genetic information
particularly detrimental to individuals, and, therefore, that the information deserves
special protections. Further, they argue that the public health benefits that could
come from large-scale genetic research and the utilization of new genetic
technologies may not be fully realized unless public fear is assuaged by genetic
Those opposed to special protections assert that genetic information is
fundamentally no different than other health data, at least not in ways relevant to
special protections, and that genetic information is already adequately protected by
medical privacy laws. The Senate report for S. 1053 (S.Rept. 108-122), the genetic
nondiscrimination bill that was passed by the Senate in 2003, included the statement
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.”
To address the question of whether genetic information merits special
protections, 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 health
information needed to be protected regardless of whether it was genetic. 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-22
genetic health information would be unwarranted.
Other studies and public opinion polls suggest that patients and members of the
community desire and may benefit from additional protections for their genetic
22 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.
information.23 A 2003 study of 470 people with a family history of colorectal cancer
showed that nearly half rated their level of concern about genetic discrimination as
high. Those individuals with high levels of concern indicated that they would be
significantly less likely to consider meeting with a health care professional to discuss
genetic testing, or to undergo testing. A 2004 survey by the Center for Genetics and
Public Policy found that 92% of survey respondents thought employers should not
have access to their genetic test results, and 80% opposed letting insurance
companies have access to results.
What Evidence Is There
That Genetic Discrimination Exists?
Critics of genetic nondiscrimination legislation have argued that legislation is
not necessary because genetic discrimination is not occurring. There have indeed
been relatively few reported cases of genetic discrimination in health insurance and
employment. Rothenberg and Terry 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.24 Reports of cases of genetic discrimination and
genetic testing by employers are presented below.
Cases of Genetic Discrimination
There have been a few studies of the prevalence of genetic discrimination in
health insurance, employment, and other settings, and these studies are quite dated.
One study reported that 22% of survey respondents indicated that they or a family
member were refused health insurance as a result of a genetic condition.25 This study
was strongly criticized by the Health Insurance Association of America (HIAA) at
the time, which 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.26 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
23 The information in this paragraph is from Shawna Williams, “The impact of genetic
discrimination,” Genetics and Public Policy Center Issue Brief, October 24, 2006, at
24 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.
25 E. Virginia Lapham, Chahira Kozma, and Joan O. Weiss, “Genetic Discrimination:
Perspectives of Consumers,” Science, vol. 274, no. 5287 (October 25, 1996), pp. 621-624.
26 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).
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.27
On October 18, 2004, several individuals shared stories of genetic
discrimination with the Secretary’s Advisory Committee on Genetics, Health and
Society (SACGHS).28 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
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 he 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 to be tested anonymously
for Huntington’s disease to protect them from discrimination. Mr.
Hardt applied — and was rejected — for long-term care insurance.
!Rebecca Fisher, a mother and early-onset breast cancer survivor with
a strong family history recounted how her employer, a small, self-
insured 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 BRCA1 mutation in her family,
chose to undergo prophylactic surgery to reduce her risk of breast
and/or ovarian cancer. After her procedures, her employer-
sponsored health insurance policy had increased by $13,000. 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 BRCA1 mutation,
indicated that, because of the potential for discrimination, she and
her family paid out of pocket for testing so her physicians and health
care providers would not write her BRCA1 status on insurance
claims forms. She further testified regarding her difficulty in finding
an insurance company that would cover herself and her husband, co-
27 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, the
American Council of Life Insurance, “Statement Regarding the Council for Responsible
Genetics ‘Study’ on Genetic Discrimination” (April 11, 1996).
28 Transcripts of the testimony can be found at [http://www4.od.nih.gov/oba/SACGHS/
meetings /October2004/SACGHSOct2004postmeeting.htm] .
owners of a small business, as a group so that their premiums would
be affordable, given her family history and genetic testing status.
!Heidi Williams, an individual diagnosed with alpha-1 antitrypsin
deficiency,29 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
antitrypsin disease. Carriers only have one copy of an abnormal
gene, and typically 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 unexpectedly 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).30
It is difficult to gauge the appropriate weight that clusters of stories like those
above should have in the policy arena. On one hand, drawing broad conclusions
based on a few examples may not be valid. On the other hand, obtaining information
from a representative sample of the population may be difficult, because individuals
may be reluctant to share their personal genetic information.
Genetic Testing by Employers
Employers’ testing of employees for genetic markers is not currently believed
to be a widespread practice; however, surveys of employer practice and employee
experience indicate that some instances exist. No cases of employment
discrimination based on genetics have been decided in a federal court or the U.S.
29 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.”
30 See Neil Osterweil, “Electronic Records, Private Lives: Who Gets a Peek at Online
Medical Information?” Available at [http://my.webmd.com/content/article/74/89227.htm].
Supreme Court. However, several have been brought or threatened, and two cases
were settled out of court.31
Surveys of Employers. 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 — to32
identify special skills or deficits that are predictive of productivity. Though
behavioral genetic testing is not ready for commercial use (largely due to the very
complex interaction of genes and the environment), other forms of testing are
The American Management Association (AMA) has conducted several surveys33
of employers’ medical testing practices. In a1998 survey, the AMA questioned the
employers about their use and understanding of what constituted a genetic test.
Respondents were presented with National Institutes of Health’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,
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.” The results were modified by a 1999 follow-up survey in which
AMA found that not all of the testing their 1998 respondents had characterized as
“genetic” actually was.34 Only nine of 44 employers who indicated having testing
programs actually had genetic testing programs. Some employers believed that any
blood test constituted genetic testing; others believed that diagnostic testing, rather
than susceptibility testing, was genetic testing.
In 2001, the AMA conducted another survey of employers’ medical testing
practices.35 The results indicated that 68% of major U.S. firms required medical
examinations for new hires, current employees, or both. These were most frequently
required in public administration and manufacturing positions and less frequently in
business or professional positions. Establishing “fitness for duty” was the leading
reason that firms engaged in complete medical examinations (48% of respondents).
Testing for illegal substance use was the most common form of workplace testing,
31 CRS Report RL30006, Genetic Information: Legal Issues Relating to Discrimination and
Privacy, by Nancy Lee Jones and Alison M. Smith.
32 M. A. Rothstein, “Genetics and the Work Force of the Next Hundred Years,” Columbia
Business Law Review, vol. 3 (2000), pp. 371-402, cited in P. G. Epps, “Policy Before
Practice: Genetic Discrimination Reviewed,” American Journal of Pharmacogenomics, vol.
33 American Management Association, “Workplace Testing And Monitoring” (New York:
American Management Association, 1998).
34 American Management Association, “Workplace Testing: Medical Testing” (New York:
American Management Association, 1999).
35 American Management Association, “2001 AMA Survey: Medical Testing” (New York:
American Management Association, 2001).
practiced by 67% of employers. Some employers also reported testing new or current
employees for the genetic diseases sickle cell anemia (1.3%) or Huntington’s disease
(0.4%), and a larger proportion asked about family medical history (20.1%). In
addition, some employers indicated that they used the medical test results — about
sickle cell anemia (1.0%), about Huntington’s disease (0.8%), and about family
history (5.5%) — for purposes of hiring, reassigning, retaining or dismissing
Surveys of Consumers. A 1996 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.36 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 having 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.
Authors of a recently published study interviewed approximately 100 adults or
parents of children with sickle cell disease, cystic fibrosis, diabetes, and HIV, and
200 adults with or at risk for breast or colon cancer about their experiences and
attitudes regarding health insurance.37 Twenty-seven percent of the respondents
self-reported having been denied health insurance or offered insurance at a
prohibitively expensive rate. Respondents with sickle cell disease and cystic fibrosis
were twice as likely to report this as those with non-genetic conditions (e.g., HIV).
More than one-third of all respondents thought there was a high chance they would
be denied health insurance in the future or their insurance would become
unaffordable. While the study may have suggested that insurers make decisions
based on genetic information or diseases, S. 358/H.R. 493 would only limit
discrimination due to genetic predisposition to diseases. The bills would have no
effect on insurance availability or costs for people like many of those in the study
who had manifested genetic diseases.
Court Cases and Legal Settlements. To date, there have been two court
cases alleging genetic discrimination. In 2002, Burlington Northern Santa Fe
Railway Corporation, one of the country’s biggest railroads, agreed to pay $2.2
million to settle charges related to genetic testing and discrimination. Employees
charged those who had filed for workers compensation for carpel tunnel syndrome
36 Virginia E. Lapham, Chahira Kozma, and Joan O. Weiss, “Genetic Discrimination:
Perspectives of Consumers,” Science, vol. 274, no. 5287 (October 25, 1996), pp. 621-624.
37 Nancy E. Kass et al., “Access to health insurance: Experiences and attitudes of those with
genetic versus non-genetic medical conditions,” American Journal of Medical Genetics,
published in advance online February 8, 2007, at [http://www3.interscience.wiley.
com/ cgi-bin/abstract/114114203/ABST RACT ].
(CTS) were tested without their knowledge for a genetic marker dubiously associated
with the syndrome. CTS is a painful hand and wrist condition caused by repetitive
motion. The railway 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 voluntarily suspended).
Burlington Northern halted the testing under the terms of a settlement shortly after
a lawsuit was filed.38
In another case, Lawrence Berkeley Laboratory was accused of conducting
pre-employment screening for sensitive medical information, testing for genetic traits
such as sickle cell trait, and for non-genetic factors such as syphilis and pregnancy.39
The case was settled out of court in 1999. Prior to settlement, the employees had
filed a court case, claiming that the Laboratory had violated Title VII and right to
privacy as guaranteed in the U.S. and California Constitutions. In response, the
laboratory sought to have the case dismissed without a trial (in summary judgement),
claiming that the employees had waited so long after the alleged testing to file their
case that their right to sue had expired (the statue of limitations had tolled). On this
issue, an appellate court sided with the plaintiffs, determining that the question of
when employees knew or had reason to know that the laboratory was conducting
testing should be decided by a court (issues of material fact existed), thus precluding
summary judgement. (Norman-Bloodsaw v. Lawrence Berkeley Laboratory (135
F.3d 1260, 1269; 9th Cir. 1998)).
Impact of the Fear of Discrimination on Behavior
While there are few documented cases of genetic discrimination by employers
and health insurers, studies have shown that public fear of discrimination influences
both the use of genetic testing and the use of genetic information by consumers and
health professionals. Fear of genetic discrimination may cause consumers to refuse
genetic testing and therapies that could be beneficial to their health. It may deter
people from participating in genetic research, thus slowing the development of new
technologies. In other words, whether or not genetic discrimination is actually
occurring, public worry about the issue may itself have detrimental effects. Related
questions have been raised about whether genetic counseling, in which professionals
inform and assist patients making genetic-related healthcare decisions, may serve to
unduly increase the fear of discrimination, amplifying the behavioral impact. Both
examples of the behavioral impact of genetic discrimination and investigation into
the role of genetic counseling are presented in this section.
38 EEOC v. Burlington N. Santa Fe Ry. Co., No.02-C-0456 (E.D. Wis. 2002).
39 “Genetic Privacy and Discrimination” Genetics and Public Policy Center Issue Brief, at
Examples of the Impact of Fear of Discrimination on Behavior
In January 2000, the Secretary’s Advisory Committee on Genetic Testing
(SACGT) sponsored a public forum that focused on the impact that the fear of
genetic discrimination was having on various groups. SACGT received comments
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, and from a survey
mailed to 2,500 individuals.40 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 nondiscrimination
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 the41
benefits of genetic testing.
Some examples of the specific impact that the fear of genetic discrimination has
on behavior were provided in October 2004, when several individuals testified at a42
!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
40 Highlights and transcripts of testimony can be found on the SACGT website at
[http://www4.od.nih.gov/oba/sacgt/sacgt mt g.htm] .
41 From a letter from SACGT to Secretary Tommy Thompson, May 3, 2001, available at
[http://www4.od.nih.gov/oba/s acgt/ltr_to_sec DHHS5-3-01.pdf].
42 Testimony of SACGHS can be found online at [http://www4.od.nih.gov/oba/SACGHS/
meetings /October2004/SACGHSOct2004postmeeting.htm] .
employers. A survey of genetic counselors43 found that, should counselors
themselves be at risk of developing either breast cancer or hereditary non-polyposis
colon cancer, most (108 out of 159 surveyed) 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, 60% would not share the
information with colleagues because of the need for privacy and fear of job
discrimination based on the result.44
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 share them with their employers.45 Another
study of 98 extended families with a 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%
indicated that they felt strongly that their family history of cancer had been the basis
for insurance discrimination.46
A group of scientists at the University of Michigan offered genetic 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 Ashkenazi 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
43 A genetic counselor is a health care professional who works very closely with a patient
to explain genetic testing options, interpret test results and explain the implications of
genetic information to that patient and their family.
44 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.
45 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.
46 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 (February 15, 2003), pp. 740-753.
insurance discrimination.47 The authors found it difficult to separate these concerns.
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 insurance
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 confidentiality reasons.48 Other authors have postulated that those
with the lowest income who were covered by government healthcare programs, such
as Medicaid, may be less concerned about genetic discrimination because their
eligibility for health insurance does not depend on health status or underwriting
The Role of Genetic Counseling
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.50 While many counselors indicate that a significant proportion (25-50%)
of patients may decline testing due to potential discrimination, other patients accept
47 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 (January
48 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 (March 15, 2002), pp. 1876-1885.
49 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.”)
50 M.A. Hall and S.S. Rich, “Genetic Privacy Laws.” See, also, references and endnotes 14-
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.51
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.52
The Genetic Information Nondiscrimination Act
of 2007 (S. 358/H.R. 493)
The Genetic Information Nondiscrimination Act of 2007 would restrict insurers’
and employers’ acquisition and use of genetic information in several ways. These
restrictions build upon those already imposed in current law. The specifics of the
proposed restrictions have sparked debates in both the employment and insurance
arenas since they were first proposed. This section of the report summarizes the
current privacy protections in place for both insurers and employers, and then surveys
the persistent debates that have accompanied genetic nondiscrimination legislation
Title I: Genetic Nondiscrimination and Health Insurance
Title I of S. 358 and H.R. 493 would extend the current HIPAA protections
against discrimination by group health plans and issuers of health insurance in both
the group and individual markets, and restrict their acquisition, use and disclosure of
genetic information. Currently, group plans and insurance issuers may require
individuals to provide genetic information or undergo genetic tests as a condition of
issuing coverage. The HIPAA privacy rule permits plans and insurers to use and
disclose genetic information for health care operations, a broadly defined term that
includes underwriting, premium rating, and other activities related to the creation,
renewal, or replacement of an insurance contract.
Under HIPAA’s current group market protections against discrimination, plans
or insurance issuers may not: (1) deny enrollment to an individual enrolling as part
of a group based on the individual’s health status, which is defined to include genetic
information; or (2) charge individuals enrolling as part of a group more than others
in the group based on genetic information. However, insurers may charge the entire
group more based on genetic information about an individual or individuals within
the group. In the individual market, HIPAA permits insurers to set premiums based
on an applicant’s genetic information, or deny that applicant coverage if the
individual is not HIPAA-protected (although some states prohibit such activity).53
The bills would place the following restrictions on group health plans and health
Genetic Testing Requirements Prohibited. The bills would prohibit
group plans and insurers from requesting or requiring that individuals or their family
members undergo a genetic test. However, they 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.
Use and Disclosure of Genetic Information Restricted. The bills
would prohibit group plans and insurers from requesting, requiring, purchasing, using
or disclosing genetic information for the purposes of underwriting, eligibility
determination (before or during the enrollment process), premium rating, or the
creation, renewal, or replacement of a health insurance plan or contract. “Incidental
collection” of genetic information would not be considered a violation.
Health Insurance Discrimination Disallowed. The bills would prohibit
plans and insurers in the group health insurance market from: (1) denying enrollment
to an individual based on genetic information about that individual or their family
members (as noted above, a similar nondiscrimination provision is already in
HIPAA); and (2) adjusting a group’s premium based on genetic information about
an individual in the group or their family members. In the individual market, the bills
would prohibit insurers from denying enrollment or adjusting premiums based on
genetic information about the individual or their family members.
53 For further information about HIPAA, see CRS Report RL31634, The Health Insurance
Portability and Accountability Act (HIPAA) of 1996: Overview and Guidance on Frequently
Asked Questions, by Hinda Chaikind, Bob Lyke, C. Stephen Redhead, and Jean Hearne, at
[ h t t p : / / www.congr e ss.go v/ er p/ r l / pdf / RL31634.pdf ] .
Penalties for Violations Permitted. The bills would permit the Secretary
to impose a penalty of $100 per day during a period of noncompliance with the
provisions in Title I. Where willful neglect was found, they would establish a
minimum penalty of $2,500, or $15,000 for more severe or prolonged violations.
Title II: Genetic Nondiscrimination and Employment
Title II of S. 358 and H.R. 493 would make it unlawful employment practice for
an employer to discriminate against an employee on the basis of genetic information.
Employers also would be prohibited from acquiring genetic information, except
under certain specified circumstances (see below). The bills would cover 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. The bills
would place the following restrictions on employers.
Genetic Testing Requirements Prohibited. The bills would prohibit
employers, employment agencies and labor organizations from requiring or
requesting that an individual or a family member undergo a genetic test. However,
they would not limit the ability of a health care professional to provide health
services; that is, health care professionals who are providing care could request or
suggest that individuals or their family members undergo testing in the context of
Discrimination in Employment Practices Disallowed. The bills would
prohibit employers, employment agencies, and labor organizations from using genetic
information when making decisions about employees’ or applicants’ hiring,
promotion, or eligibility or selection for training programs or apprenticeships.
Acquisition of Genetic Information Restricted. Generally, the 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 offered a health service program;
!when the employee provided written authorization;
!when the information was used to monitor the biological effects of
toxic substances in the workplace, but only if:
— the genetic monitoring was required by federal or state law;
— the employee provided written authorization;
— the employer provided written notice of genetic monitoring;
— the employee was informed of the monitoring results;
— the monitoring was conducted in compliance with federal genetic
monitoring regulations; and
— the identity of specific employees was not disclosed.
In addition, the proposed bills would allow an employer to obtain genetic
information in the following situations:
!when the employer inadvertently requested or required family
!when the employer offered health or genetic services, and the
individual provided authorization;
!when the identity of specific employees was not disclosed;
!when the employer requested information to comply with Section
103 of the Family and Medical Leave Act; and
!when the employer purchased publically available documents that
may have included family medical histories (books, magazines, etc.).
Management of Genetic Information Specified. The 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 obtained it. Disclosure of information would be prohibited except when
!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 4554
CFR Part 46;
!in response to a court order when the employer has given the
employee notice and sufficient time to challenge the order; and
!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.
Study of Violations Required. S. 358 and H.R. 493 would not limit
employees’ rights or protections under the ADA or Rehabilitation Act of 1973 or any
other federal or state statutes. The bills 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 violated the law, and as a result,
disproportionate adverse effects are experienced by some individuals with certain
genetic information. The bills would not apply to the Armed Forces Repository of
Specimen Samples for the Identification of Remains.
54 45 C.F.R. Part 46 contains the Department of Health and Human Service’s regulations
governing the protection of human subjects in research. Subpart A of these regulations is
known as the “Common Rule” because 17 other federal agencies have adopted parallel
Selected Legislative Issues
Debate about genetic nondiscrimination legislation has continued since such
bills were first introduced in the 103rd Congress. In order to fully appreciate the
debate, an understanding of how the HIPAA privacy rule currently governs insurers’
and employers’ use of health information is useful. The sections that follow present
background about the privacy rule, and then present several of the issues that have
been the topic of debate over time.
Privacy Rule Background. In general, the privacy rule covers all
individually identifiable health information that is created or received by a health
plan or health care provider, including genetic information and information about an
individual’s family medical history.55 Plans and providers may use and disclose
health information for their own treatment, payment, and other routine health care
operations without patient authorization and with few restrictions. The rule,
however, does not apply to other entities that collect and maintain health information
such as financial institutions that offer life insurance. Employers that sponsor health
plans on behalf of their employees present a challenge for the rule’s implementation
because of their interrelationship with the insurer or health maintenance organization
(HMO) that typically administers the plan. In their role as plan sponsor, employers
may seek health information to carry out various plan functions.
While the rule in general does not regulate employers, it does address the use
and disclosure of health information (including genetic information) by employers
that sponsor group health plans. The rule permits a group health plan, a health
insurance issuer, or an HMO acting for a group health plan to disclose health
information to a plan sponsor (employer), provided the plan documents are amended
so that they limit the uses and disclosures of information by the sponsor to those
consistent with the privacy rule. In addition, an employer must certify to a group
health plan that it will not use the information for employment-related actions (e.g.,
hiring and promotion decisions). The employer must agree to establish adequate
firewalls, so that only those employees that need health information to perform
functions on behalf of the group health plan have access to such information.56
Title I: Is the Privacy Rule Sufficient to Protect Consumers? S. 358
and H.R. 493 would extend privacy rule protections to insurance and employment
functions to clarify the permitted uses of information as exchanged between plan
sponsors (employers) and group health plans. Some have questioned whether these
additional privacy and confidentiality provisions are necessary. Others have argued
that while HIPAA addresses what to do with information that has already been
55 For further information about the HIPAA Rule, see CRS Report RS20500, Medical
Records Privacy: Questions and Answers on the HIPAA Privacy Rule, by C. Stephen
56 45 C.F.R. 164.504(f). The rule permits the following types of disclosure of health
information to a plan sponsor without amending the plan documents: (1) disclosure of
summary information (identifiers removed), if requested, for the purpose of obtaining
premium bids or modifying, amending or terminating the group plan; and (2) disclosure of
information on whether an individual is enrolled in or has disenrolled from a plan.
obtained, the proposed bills would address more specifically the acquisition of
Titles I and II: Would Legislation Actually Increase Utilization? Title
II of S. 358 and H.R. 493 would require employers to keep genetic information in
files separate from other employee medical information. This 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. In previous Congresses, some expressed concern that
the legislation, which was intended to increase utilization of health care services and
participation in clinical studies, would actually reduce utilization because the overly
burdensome separate file requirement would raise the cost of providing genetic
services and would affect insurers’ willingness to pay for them. Others argued that
the separate file requirement was not particularly burdensome (the privacy rule
already requires employers limit access to employees’ protected health information).
They further argued that the separate file requirement was restricted to employers and
would not affect insurers or their customers.
Title I: Would the Minimum Penalty Encourage Frivolous Lawsuits?
The bills provide that, when Title I is violated and willful neglect is found, there is
a minimum penalty of $2,500. For more severe or prolonged violations, the
minimum penalty is $15,000. 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, and could act as a
disincentive for settling disagreements. Others have argued that the penalty clauses
are equivalent to those contained in other civil rights legislation, and that appropriate
penalties are necessary to deter discriminatory practices.
Title II: Do the Bills Specify How Information May Flow Between a
Group Health Plan and an Employer? S. 358 and H.R. 493 generally prohibit
employers from requesting or requiring genetic information about their employees.
This is more restrictive than what HIPAA currently permits. HIPAA allows group
health plans to disclose health information — including genetic information — to
plan sponsors (employers) if certain conditions are met. The conditions are generally
designed to allow sponsors to use the information to perform functions on behalf of
the group health plan (i.e., administer the plan and develop of new insurance
contracts), but not for employment-related actions (i.e., hiring and promotion
decisions). Opponents of the legislation argue that such restrictions will create
confusion regarding which types of health information insurers can release to
employers, particularly if genetic information, which would have to be separated
from other health information and be withheld from employers, is not clearly defined.
Supporters of the legislation indicate that the bills would not change the foundation
of protections established by HIPAA and the privacy rule. Instead, the net affect
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).
Title II: Would the Bills Create an Incentive for Suing Employers?
The bills would permit individuals to sue without first filing a complaint with the
EEOC. Some have argued that this, coupled with the absence of a cap on
compensatory and punitive damages, would encourage frivolous litigation.57 Others
argue that, as with Title I, penalties are consistent with remedies under existing civil
rights legislation (e.g., ADA), and argue that they are necessary to assure compliance
with the provisions.
Title II: Do the Bills Strike the Right Balance Between Public and
Individual Risk? S. 358 and H.R. 493 would not permit an employer to make an
employment decision based on predictive genetic information, even when there may
be some resulting risk to public health. 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). Some argue that the bills should
permit employers to make decisions based on predictive genetic information in
situations where the public might be harmed (such as an employee carrying a gene
predisposing him or her to epilepsy when the employee is a bus driver). Others stated
that it was unfair to deny healthy people opportunities when only a possibility of
becoming ill existed. Even if it could be known that a person would definitely
become ill (as in the case with those that have a gene for Huntington’s Disease), the
precise time that the illness would prevent the employee from doing his or her job
could not be known. Furthermore, they argue that allowing the use of predictive
genetic information in these circumstances would create bias against those people
who happened to be predisposed to a disease for which a test existed. If two people
were genetically destined to become incapacitated at the same time, but by different
diseases, and if there happened to be a predictive test developed for only one of the
diseases, the person with a predisposition for that disease may be subject to adverse
consequences from the availability of the information, while the other person would
Title II: Should the Bills have a Sunset Clause? S. 358 and H.R. 493
do not have a 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 unusual in civil rights legislation;58
there is only one example of civil rights legislation that has an expiratory term.
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 not believe that discrimination issues will go away in the
near term. For example, a sunset provision may not protect a person who agreed to
57 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
Legislation to Ban Nonexistent Genetic Discrimination,” June 4, 2003.
58 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. The voting rights
act was last reauthorized in 2006, and extended for a period of 25 years. P.L. 109-246; see
be tested when the laws were in effect, but whose genetic information would then be
in his or her record after the laws expired.
Title II: Should the Bills Require Separate Medical Files? S. 358 and
H.R. 493 require employers to keep employees’ genetic information in separate
medical files. The House Committee on Education and Labor adopted an
amendment to H.R. 493 on February 14, 2007, specifying that genetic information
protected by the act could be maintained with and treated as a confidential medical
record under ADA §102(d)(3)(B). S. 358 contains no parallel provision.
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 genetics professionals are already keeping separate files in the absence of
protecting legislation.59 In fact, Executive Order 13145 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.” Some
have argued that requiring maintenance of genetic information in separate files
increases potential for medical error. Others point out that, 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, which is contrary to precedent.
Title II: Should the Bills Create a Safe Harbor? S. 358 and H.R. 493
would not preempt state laws. The legislation would set a floor of basic federal
nondiscrimination regulations that would apply in all states, but would permit states
to keep or enact their own more comprehensive genetic nondisrcrimination
legislation. The bills would not provide a safe harbor, which would protect
federally-compliant employers from prosecution under state genetic
nondiscrimination laws. Because states vary widely in their approaches to genetic
nondiscrimination, opponents of federal legislation proposed that any federal law
should include a safe harbor provision. Supporters of the legislation argue that a
federal floor is appropriate, and that states should continue to be able to enact and test
the effects of additional genetic nondiscrimination provisions within their borders.
Title I and Title II: How Do S. 358 and H.R. 493
Protect Genetic Information?
An overarching question regarding S. 358 and H.R. 493 is how the bills would
protect genetic information. The answer depends both on types of protections
(specifying what can be done with genetic information), and on the definition of
genetic information itself (specifying what is protected and what is not). As
discussed in previous sections, the types of protections would primarily be
restrictions on the manner in which genetic information could be used in determining
59 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.
eligibility for health insurance, establishing premiums for health insurance, and in
making decisions regarding employment. The definition of genetic information is
discussed in detail below.
The bills define genetic information as — and therefore protect — knowledge
derived from a genetic test performed on individuals or their family members that
relates to the occurrence of a disease or disorder. The protections would apply to
predictive genetic tests that provide information regarding a future possible health
status of a currently non-affected person. The bills’ precise definition of genetic
information, and thus protections that they would provide, hinge on factors discussed
below, including the definition of family medical history, differences between Title
I and Title II, and predictive versus manifested disease information combined with
the type of genetic test performed.
Family Medical History. S. 358 and H.R. 493 specify that genetic
information includes the fact that an individual or his/her family member has taken
a genetic test. The bills define 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). Historically, genetic
nondiscrimination act bills have stressed the importance of family history. Theth
Senate report to accompany S. 1053 (108) 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.”60 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. Some debate has
ensued over the question of who should be considered to be in one’s family.
The risk of sharing genetic traits or conditions is greatest in first and second-
degree blood relatives.61 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
sharing many common diseases is virtually the same as in the general population.
Proponents of the legislation argue 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.
60 S.Rept. 108-122 for S. 1053 (108th).
61 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.”
Opponents argued that inclusion of distant or non-blood related individuals further
extends the potential for litigation against insurers or employers.62
The House Education and Labor Committee Chairman’s version of H.R. 493 as
reported by the committee defined a family member as someone related by blood
within four generations. S. 358 contains no parallel provisions. During the February
14, 2007, House Education and Labor Committee markup, a proposed amendment
to expand the definition of family member to include fetuses was defeated. However,
the Chairman’s amended version of the bill contains provisions in Title I and Title
II specifying that the definition of genetic information (rather than family member)
would include that of a fetus. S. 358 contains no similar provisions.
Although prenatal testing may be either diagnostic or predictive in nature,
coverage for a child does not usually begin until the moment of birth.63 In general,
medical insurance covers the named insured and dependents of the named insured.
Any genetic information collected about a fetus while a woman is pregnant would
likely arise in the context of providing prenatal care to the insured woman. Because
the fetus would not appear to be a separate insured individual, it seems likely that any
genetic information collected about the fetus would probably be attributed to the
woman as the named insured, and protected from discrimination to the extent that her
own medical information was protected.
Differences Between Title I and Title II. The bills’ two titles define genetic
information differently and, therefore, apply different restrictions to employers and
insurers (see Table 1). Title I (health insurance provisions) specifically excludes
from its definition of genetic information — and therefore does not protect —
medical information that is not genetic information, including the analysis of proteins
or metabolites directly related to manifested disease, disorder, or pathological
condition. This exemption is not present in Title II (employment provisions), making
the definition of genetic information — and the scope of what is protected — broader
for employers than insurers. In addition, the bills would permit health insurers to use
or disclose the individual’s current health status (as determined without a genetic
test), consistent with existing law. This permission is not present in Title II, as
employers are already prohibited from using a person’s current health status in
specific ways by existing law.
62 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 pre-
implantation 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.
63 See Lee R. Russ, Couch on Insurance, 3rd ed., § 144:28 (Andover, UK: Sweet & Maxwell
Table 1. The Definition of Genetic Test and Genetic Information
in Title I and Title II of S. 358 and H.R. 493
Title ITitle II
Genetic testThe term “genetic test” meansSame as Title I.
the analysis of human DNA,
RNA, chromosomes, proteins or
metabolites that detects
genotypes, mutations, or
Limitations or“Genetic test” does not mean:“Genetic test” does not mean
exemptions(i) an analysis of proteins oran analysis of proteins or
metabolites that does not detectmetabolites that does not
genotypes, mutations, ordetect genotypes, mutations,
chromosomal changes; oror chromosomal changes.
(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“Genetic information” means:Same as Title I.
information(i) information about an
individual’s genetic tests;
(ii) information about genetic
tests of family members of the
(ii) information about the
occurrence of a disease or
disorder in family members.
Limitations or“Genetic information” does notSame as Title I.
exemptionsinclude information about the age
or sex of an individual.
Title I, Predictive vs. Manifested Disease Information and Type of
Test. Title I of the bills focuses on protecting predictive information (i.e.,
information about a future or potential health state in a currently symptom-free
individual). It does so by exempting from the definition of genetic information
analyses of proteins or metabolites that are directly related to manifested diseases.
Insurers could thus use this type of genetic information in accordance with current
law governing insurance and employment practices. The definition of genetic test
in the bills is more limited than the medical or scientific definition of genetic test,
which covers both predictive and diagnostic reasons for testing.64 Instances in which
the distinction is blurred between predictive information and that related to a
manifested disease may cause some confusion if the bills are enacted.
Based upon the definition of genetic test in Title II, analyses of a person’s DNA
or RNA would be protected regardless of whether any related disease had manifested.
By contrast, as mentioned above, the definition of genetic test in Title I does not
include analyses that are both conducted on proteins or metabolites, and are directly
related to manifested diseases. Thus, information derived from studying a protein or
metabolite would only be protected before symptoms appeared. These provisions
create potentially unclear results when a single genetic test, which could be
performed on DNA or proteins, yields results that are both related to a manifested
disease or condition, and are predictive in nature. The potential dilemma is
illustrated by the following example.
If a person had cancer, a test of the tumor DNA or proteins may simultaneously
provide information about the tumor itself (a manifested disease), and its likelihood
of recurrence (a predictive probability). If surgery were performed to remove the
tumor and the patient went in to remission, the information obtained from the
patients’ tumor could be considered both diagnostic for the previously manifested
tumor and predictive regarding a potential recurrence. If the test had been performed
on tumor DNA, the information would be protected no matter whether it was
considered to be diagnostic or predictive. However, if it had been performed on
tumor proteins, if it were considered diagnostic it would not be protected. If it were
considered predictive, it would be (see Table 2).
64 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.
Table 2. Examples of Genetic Testing Scenarios
and Protected Information Under S. 358 and H.R. 493
ScenarioS. 358 and H.R. 493
Test of tumor proteins; information isNot Protected because “analysis is of protein ... is
diagnostic, the tumor has not been removed.directly related to a manifested disease.”
Test of tumor DNA; information is diagnostic,Protected, meets basic criteria for genetic test
the tumor has not been removed.(only protein or metabolite tests meet exclusion
for manifested disease).
Test of tumor proteins; tumor has beenNot Protected if the removed tumor is a
removed; information indicates the likelihood“manifested disease;” Protected if tumor removal
of tumor recurrence.means that the disease is no longer manifested.
Test of tumor DNA; tumor has been removed;Protected, meets basic criteria for genetic test, so
information indicates the likelihood of tumor“manifested” is not an issue; limitation only
recurrence.applies to tests of protein.
Test of tumor protein; information requestedNot Protected if information about possible drug
for diagnostic purposes indicates resistence toresponse is considered “directly related to
therapy.manifested disease;” Protected if not directly
r e lated .
Test of tumor on patient’s DNA; informationProtected, meets basic criteria for genetic test, so
requested for diagnostic purposes indicates“directly related” is not an issue; (only protein or
resistence to therapy.metabolite tests meet exclusion for manifested
This same lack of clarity may create issues in the case in which a person
undergoes a pharmacogenetic test, which is a genetic test to determine whether a
person is susceptible to adverse reactions to or beneficial results from a certain drug
or other treatment. Information from pharmacogenomic tests reveals normal
variability in how different people’s bodies process different medications —
personalized medicine. It is unclear whether this type of test would be protected
under current legislation. Pharmacogenetic tests for individual susceptibilities to
certain drugs can be performed at any point in an individual’s life (i.e., when an
individual does not have a manifested disease). Thus, the scope of protections
afforded to pharmacogenomic test results might depend on whether the person
already had a disease for which the treatment was indicated. 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 may be of particular concern if only one treatment