The Limits of State Laws to Protect Genetic Information
George J. Annas, J.D., M.P.H. (2001). Sacred Secrets
-- The Privacy of Medical Records. N Engl J Med 345: 371-372
During the 2000 presidential campaign, Al Gore characterized the DNA
code as a secret code like that of the Nazis. In his words, "with
the completion of the Human Genome, we are on the verge of cracking another
enemy's secret code. When we intercept and decipher the coded messages
that cancer sends from cell to cell, we will turn the tide, and win the
war against cancer."[1] Gore was expanding the
metaphor of the war on cancer, and commandeering the DNA code in the
service of that metaphor. At about the same time, then president Bill
Clinton called the DNA code "the language in which God created life."[2] The
metaphors we use to describe a thing profoundly affect how we think about
it. A variety of metaphors have been used to describe human DNA, including "the
book of life," the "book of man," "the holy grail
of biology," and the "blueprint of life."[3]
Metaphors both inform and misinform, since they represent one thing as
another.[4] Given the proliferation of secret-code metaphors
and hyperbolic religious metaphors for the human genome, it is not surprising
that there is great concern about how to protect personal DNA information,
including genetic variations that predispose a person to various diseases,
such as breast cancer. I have suggested elsewhere that a person's DNA
can usefully be viewed as a coded "future diary" and that it
should be considered as personal and private as a diary about that person's
past. [5, 6] In 1995, my colleagues
and I proposed a federal genetic-privacy act for the Human Genome Project.
[7, 8] However, other than the inclusion
of the undefined term "genetic information" as something group
health plans cannot use to deny eligibility under the Health Insurance
Portability and Accountability Act of 1996, no federal legislation has
been enacted. In the absence of federal legislation, the states have
had to act on their own to protect the privacy of individual genetic
information and to protect against discrimination on the basis of such
information. Most states now prohibit discrimination on the basis of
genetic information in one or more types of insurance, about half prohibit
such discrimination in employment, and more than a dozen require informed
consent before a genetic test can be performed. [9, 10]
One of the most recent state laws, enacted in Massachusetts in 2000,
covers all these areas. [11] An examination of the
Massachusetts law illustrates the main areas of concern, how political
compromises can undermine the best intentions, and the limits of state
privacy and antidiscrimination laws governing genetic information. All
state legislation presumes that genetic information requires special
protection; whether this presumption is valid is itself a point of contention. [12]
The Massachusetts Genetic-Testing Law
The Massachusetts law is designed to protect persons from discrimination
based on the results of genetic testing. The law requires that informed
consent be obtained before most genetic tests are performed and prohibits
employers and some insurers from requiring genetic testing or using the
results of such testing in a discriminatory fashion. [11] The
protected genetic information generally includes "any written or
recorded individually identifiable result of a genetic test . . . or
explanation of such a result." Thus, the definition of "genetic
test" is central, and in the law this definition varies depending
on the entity involved. A genetic test is defined as "a test of
human DNA, RNA, mitochondrial DNA, chromosomes, or proteins for the purpose
of identifying genes, inherited or acquired genetic abnormalities, or
the presence or absence of inherited or acquired characteristics in genetic
material." [11]
Written informed consent is required before conducting a genetic test
or divulging its results. The informed-consent document must contain
the following information: a statement of the purpose of the test; a
statement that the person being asked to provide consent has been informed
of the reliability of positive or negative test results and the level
of certainty that a positive result serves as a predictor of the condition
in question; a statement that the person has been informed of the availability
and importance of genetic counseling and has been given, in writing,
the name of a genetic counselor or medical geneticist who will provide
such counseling; and a general description of each specific condition
tested for and the person or persons to whom the test results may be
disclosed. [11]
The requirement to obtain informed consent does not apply to genetic
testing performed by physicians or hospitals for diagnostic purposes.
For health insurers and health maintenance organizations (HMOs), however,
informed consent is required for both predictive and diagnostic tests.
A narrower definition of genetic information applies to disability and
life insurance companies, and a broader definition (including family
history) applies to employers.
The informed-consent requirement is also not applicable to newborn screening
and tests for drugs, alcohol, cholesterol, or antibodies to the human
immunodeficiency virus when these tests are performed by physicians or
hospitals. Each of these exceptions reflects successful lobbying on the
part of interest groups. There is also a specific exception to reobtaining
consent for "pharmaco-economic" research to determine the cost-benefit
ratio of specific treatments for genetic diseases and a more general
exception for "confidential research information," both of
which were demanded by the state's major research hospitals and biotechnology
companies. Confidential research information is specifically defined
as follows:
Any results of a genetic test maintained pursuant to pharmacological
or clinical research protocols which are subject to and conducted in
accordance with the review and approval of an Institutional Review Board
. . . which protects the confidentiality of the individual who is the
subject of the genetic test either by encryption, encoding or other means
. . . or where the identity of the individual is unknown or protected
from disclosure by encrypting or encoding. [11]
The antidiscrimination provisions prohibit employers, employment agencies,
labor organizations, and licensing agencies from discriminating against
a person on the basis of genetic information (e.g., using such information
as a basis for firing or refusing to hire, represent, or grant membership
or a license to the person). In addition, they are not allowed to require
genetic testing or the disclosure of the results of genetic testing;
offer an inducement to undergo genetic testing; ask questions about genetic
information; use genetic information to affect the terms of a relationship
with the person; or "otherwise seek, receive, or maintain genetic
information for non-medical purposes." [11]
The provisions governing insurance are more complicated. They basically
prohibit medical insurers, HMOs, and insurance agents from canceling
coverage, refusing to issue or renew coverage, or discriminating in any
other way on the basis of genetic information. Disability and long-term
care insurers may use genetic information "to set the terms of a
policy provided that such information is reliable information relating
to the insured's mortality or morbidity, based on sound actuarial principles,
or actual or reasonably anticipated experience." Life insurance
companies may ask applicants if they have undergone genetic testing,
but applicants cannot be required to answer this question (although failure
to do so may result in an increased rate or denial of coverage). If the
applicant has undergone genetic testing, the results may be used if they
are reliable. This determination is ultimately made by the insurance
commissioner, with the assistance of a special commission to investigate
the use of genetic-test results in connection with the issuance of life,
disability, and long-term care insurance.
To enforce these provisions, the law relies on the state's consumer-protection
act, which provides for payment of attorney's fees and triple damages
in the case of "willful and knowing" violations and also authorizes
the attorney general to seek an injunction against the offending party.
However, those measures will help only persons who incur financial damages
because of a breach of privacy or discrimination, making the law relatively
toothless.
Discrimination on the Basis of Genetic Information
The ability to discriminate against someone on the basis of genetic information
requires that the information exist. Many people have refused to undergo
genetic testing because of fear that they might lose their job or insurance
coverage or otherwise suffer discrimination. [9] That
is probably why many commentators have consistently insisted that specific
legislation to prevent genetic discrimination is necessary. [13] Because
existing state laws differ and not all states have them, Francis Collins,
the director of the National Human Genome Research Institute, and others
have called for federal legislation to outlaw the use of predictive genetic
information by health insurance companies and employers. [14] This
makes sense.
Under existing law, the federal government can try to prevent genetic
discrimination in employment through its power to regulate interstate
commerce. The Equal Employment Opportunity Commission has taken the position
that the use of genetic tests to discriminate against workers is a violation
of the Americans with Disabilities Act. [15] This year,
in its first genetics enforcement action, the commission sought to enjoin
the Burlington Northern Santa Fe Railway from testing some of its employees
without consent. [16] Burlington Northern was accused
of secretly performing a DNA test that was thought to indicate the presence
or absence of a predisposition to the carpal tunnel syndrome in employees
seeking workers' compensation or disability payments. Burlington Northern
almost immediately settled the case. The company agreed to stop genetic
testing of its employees. The commission is continuing its investigation
of the initial allegations and may seek compensatory and punitive damages
of up to $300,000 each for the 20 to 30 workers who were tested. In a
separate lawsuit by the union, which was dismissed without prejudice,
the company also promised to publicly support federal legislation prohibiting
genetic testing in the workplace. [17] Nonetheless,
the Equal Employment Opportunity Commission is ill equipped to deal with
genetic discrimination in a systematic way. [18]
The Massachusetts law ostensibly protects workers against what Burlington
Northern did by prohibiting employers from seeking, receiving, or maintaining
genetic information for nonmedical purposes. But the employment protection
did not help the Burlington Northern employees, even though the genetic
test was performed in a Massachusetts laboratory, Athena Diagnostics,
because the workers were not employed in Massachusetts. Moreover, even
though the genetic test was performed in a Massachusetts laboratory (which
is covered by the law) without the required certification of the company's
physician that informed consent from the workers had been obtained, if
the workers did not incur substantial monetary damages as a result of
this violation they have no real remedy under Massachusetts law. In early
July, however, the chief sponsor of the Massachusetts law, Senator Linda
Melconian, asked the attorney general to determine whether Athena Diagnostics
violated the law.
Discrimination by insurance companies on the basis of genetic information
is much more complex. Although it could be addressed by federal legislation
governing interstate commerce, insurance has historically been regulated
at the state level. This is likely to remain true for life, disability,
and long-term care insurance. Health insurance, however, is more of a
necessity than these other forms of insurance. The federal government
has statutory authority to establish antidiscrimination rules for health
plans. [19] Courts, however, may conclude that because
of the Employee Retirement Income Security Act, states have no authority
to regulate discrimination based on genetic information in employer-sponsored
group health plans.
Privacy of Genetic Information
Genetic privacy is a much broader rubric than genetic discrimination.
[5, 6, 20, 21]
The results of genetic tests can affect how a person is treated by others,
such as insurers and employers. The person tested, however, is the one
most directly and intimately affected by the result. The results of genetic
tests can change people's perceptions of themselves, "their personality,
their self-worth, their sense of security, and their relationships with
loved ones." [9] Antidiscrimination legislation,
although necessary, is not sufficient to provide protection from these
potentially life-changing effects of genetic testing. Privacy rules are
required, such as the provision in the Massachusetts law that written
informed consent be obtained before a genetic test is performed.
Almost all the definitions of "genetic test" and "genetic
information" in state statutes have been criticized as either too
broad or too narrow. One argument is that all medical information has
a genetic basis, so it is wrong to single out genetic information for
special treatment. [22] Another is that laws governing
genetic privacy should apply only to information about DNA sequences. [7] The
Massachusetts law represents an intermediate approach. It defines genetic
information as not only DNA, RNA, and information derived from chromosomes
but also the results of protein tests performed "for the purpose
of identifying genes" or genetic conditions.
Whether the results of protein tests should be considered genetic information
is controversial. Some clinical tests, such as hemoglobin electrophoresis,
are protein tests. To many observers, protein tests and gene tests seem
the same. There are reasonable arguments on both sides. My own view is
that, as a practical matter, statutes designed to protect genetic information
should be limited to direct gene-based information, even though the results
of protein or other tests can sometimes reveal information about DNA
sequences as well. The New York State Task Force on Life and the Law
has taken a different view. In a report on genetic testing, it concluded
that the fact that a test for beta-globin protein could identify the
DNA sequence that caused sickle cell disease was a sufficient reason
not to distinguish between DNA and protein tests. [22]
For the most part, a person's DNA does not change over time. Once physicians
or researchers have obtained a DNA sample from a person, they can perform
an innumerable number of new DNA tests on the sample without ever needing
to see the person or obtain another sample. Thus, extensive personal
information can be obtained without the person's knowledge or consent.
Information gleaned from DNA testing is uniquely private because it can
be used to predict (not determine) a person's medical status in the future.
Privacy and Genetic Research
The Massachusetts law seeks both to protect individual privacy and to
promote genetic research. It accomplishes the latter, but only at the
expense of the former, because informed consent is not required in the
case of so-called confidential research information, as I have discussed.
This means that researchers can use and share the results of genetic
testing if their study protocols have been approved by an institutional
review board and if the identity of the subjects is concealed by encryption,
encoding, or other similar means. In my view, this measure is too vague
to be protective. Researchers should be required to obtain informed consent
for the research use of genetic data that can be linked to an individual
person.
Meaningful protection of privacy in the context of genetic research also
requires that a distinction be made between genetic information derived
from DNA and the DNA sample itself. Because the DNA sample can be viewed
as a coded medical record, I believe separate rules are needed for DNA
samples. One approach is to require that DNA samples be destroyed or
their identifiers removed as soon as the research for which consent was
provided has been completed. Another is to require informed consent for
the storage of DNA samples and for any new studies involving the samples
and to give the research subject the right to have the samples destroyed
at any time. [7, 8] Still another way
to protect the privacy of genetic information is to recognize a person's
property rights with regard to his or her DNA. Most people understand
that ownership usually means control. Thus, explicit recognition of a
person's ownership of his or her DNA may make it clear, especially to
researchers and biotechnology companies, that the party with the greatest
interest in the information contained in a DNA sample is the person from
whom the sample was obtained and that this person properly has the right
to decide whether and how the DNA is used. These and other privacy issues
in DNA research continue to be discussed and debated at both the national
and the international levels, not just at the state level. [6, 23, 24]
Serious penalties for violating a person's rights with regard to the
privacy of genetic information are also needed to make the protection
of these rights meaningful.
Conclusions
The Massachusetts genetic-testing statute provides stronger protection
against discrimination, especially in employment, than it does against
invasion of privacy. Ultimately, I believe that federal legislation should
address genetic discrimination by employers, as well as such discrimination
by health insurers and group health plans. President George W. Bush recently
announced his support for legislation that will prohibit genetic discrimination
on the part of both employers and health insurers. [25] In
his words, "to deny employment or insurance to a healthy person
based only on a predisposition [to disease] violates our country's belief
in equal treatment and individual merit." [26] Protection
against genetic discrimination by life, disability, and long-term-care
insurers should remain the responsibility of individual states; the Massachusetts
law provides a useful template in this respect. Although privacy is reasonably
protected by requiring that written informed consent be obtained for
genetic testing and the release of test results, in my opinion, the exceptions,
particularly for research, are not justified. I think thabursecific informed
consent should be required. I also believe that the Massachusetts law
is seriously defective in its failure to protect a person's privacy rights
in the storage and retesting of identifiable DNA samples and in its failure
to provide either a strong penalty or an effective remedy for the violation
of these rights.
The privacy of genetic information could continue to be protected state
by state, with each new state law drawing on the lessons learned by others.
As I have argued elsewhere, however, uniform federal protection would
be more effective. [7, 8] The experiences
of the states over the past six years provide a reasonable basis for
federal legislation. DNA is not a Nazi code, but neither is it the language
of God. It is highly personal, private information that may reveal intimate
aspects of a person's possible medical status in the future. To protect
the privacy of genetic information, we should limit its creation and
dissemination and give people control over their DNA samples.
Source Information
From the Health Law Department, Boston University School of Public Health,
Boston.
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