The New Genetic World and the Law
The new genetic technologies are transforming the practice of medicine and raising important legal and ethical issues. How will the law define, limit, and shape the parameters of this new set of far-reaching medical tools?
by Arthur R. Derse
New genetic discoveries seem ubiquitous in the headlines. Just last year,
scientists announced that they had finished the rough draft of the human
genome, the sequence of genetic instructions that reside in almost every
human cell and that control the growth, development, and functions of
the human being to a significant degree. While some less common diseases
such as cystic fibrosis have long been known to have significant genetic
components, recent discoveries are showing that genes play a role in several
more common diseases such as breast, colon, and prostate cancer; heart
disease; diabetes; alcoholism; and Alzheimer's.
Though genetics is causing a revolution in medicine by revealing new
genetic factors in diseases, it also is revealing interesting surprises
about our inheritance. In February, scientists announced that they had
to revise their estimate of the number of human genes dramatically downward
by about two-thirds.1
Humbled to learn that humans have only half again the number of genes
of the roundworm and about 300 more genes than the chimpanzee, scientists
are now recognizing that the sheer number of genes is not nearly as important
a factor in human complexity as the variety of proteins that each gene
might produce.
These announcements were part of a series of profound revelations from
the Human Genome Project,2
a governmental consortium of the National Institutes of Health (NIH),
the U.S. Department of Energy (DOE), and international partners.3
The information from the genome project and its private competitor, Celera
Genomics, is continuing to fuel new genetic technologies that range from
genetic testing (so-called "DNA testing") to genetic therapy and cloning.
The new genetic technology is changing medicine, agriculture, and even
anthropology. For example, genetic discoveries support the conclusion
that humans are descended from just a relatively small number of individuals
from more than 100,000 years ago.4
Impact of Genetic Technology
on the Law
Genetic technology also has had a profound impact on the law. Genetic
testing has made its mark on criminal law, with convicted death row inmates
being freed as a result of exculpatory genetic evidence. Last year, the
governor of Illinois suspended executions in that state because of the
number of convictions having been overturned, many as a result of DNA
evidence.5
The high level of accuracy of gene-based paternity testing also has
had a profound impact on family law. Genetic testing has made determining
paternity simple and routine, with three times as many paternity tests
conducted in 1999 as in a decade earlier. In 28 percent of these tests,
the man tested was found not to be the father.6
Genetic testing even reached back generations to ascertain to a high degree
of likelihood that President Thomas Jefferson had fathered children by
his slave, Sally Hemings.7
In addition, genetic technology has played a role in recent constitutional
legal history. The allegations that President Clinton had an affair with
an intern remained unsubstantiated until tests showed that the genetic
material on a dress was an identical match to the genetic sequence of
cells in blood drawn from the president. Soon after this evidence was
obtained, the president admitted to the affair. Without this definitive
evidence and his subsequent admission of the previously denied affair,
it is possible that President Clinton might not have been impeached.
The law, in turn, has had a significant impact on genetic technology.
The ability to patent tests and other products based on an organism's
genome sequence8
has spawned a whole genetic industry.9
Celera Genomics, the company that competed with the Human Genome Project
to finish the genome map and spurred the project to complete its mapping
of the human genome five years ahead of schedule, is but one example of
the industry developing around genetic technology.
In medicine, the impact of genetic technologies has given rise to a
bevy of interrelated ethical and legal questions.
Informed Consent to Genetic
Testing
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Arthur
R. Derse, M.D., J.D. (U.W. 1987), is director of medical and legal
affairs at the Center for the Study of Bioethics at the Medical College
of Wisconsin and associate clinical professor of bioethics and emergency
medicine. Portions of this article are based on Derse, A.R., "The
Brave New Genetic World," Wis. Med. J. 19-22 (April 1998). |
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The most pressing legal and ethical issue is informed
consent to genetic testing. Dr. Francis Collins, director of the NIH Human
Genome Program, predicts that in the near future physical examinations
for 18-year-olds will include DNA testing for diseases with genetic components,
and that physicians will make risk-based recommendations for preventive
measures.10
Patients must consent to medical procedures and must be informed
of the nature and risks of the procedure, including the alternative viable
procedures and the alternative of no treatment.11
Normally, the risks that would be necessary to be disclosed for a medical
procedure are risks that would be material to a patient's decision to
undergo the procedure.12
However, the risks inherent to the physical intrusion by genetic testing
are not nearly as material to a patient as the risks inherent in the information
that can be gleaned from the test.
It may be argued that genetic testing is different from most other medical
tests. A genetic test ascertains information about the person that is
unchangeable - at least until gene therapy, which is capable of changing
the genetic sequence, becomes practical many years from now. This permanent
information may have important implications for patients regarding their
life expectancy, reproduction, future insurability, and employment. Thus,
genetic tests are not run-of-the-mill, like a test for anemia, where the
condition may be transient and medical interventions may be able to change
the underlying condition.
In its significance, genetic testing is more akin to testing for human
immunodeficiency virus (HIV), especially in the days when there were few
effective treatments. HIV is also a permanent condition with implications
for patients in life expectancy, reproduction, future insurability, and
employment. Under Wisconsin law, informed consent must be obtained for
HIV testing, as with any procedure. However, because of its great potential
for employment and insurance discrimination, HIV testing in Wisconsin
requires written informed consent to document the patient's agreement
and understanding.13
Like HIV, should there be special written informed consent provisions
for genetic testing?
In Wisconsin, there is no requirement for written consent for genetic
testing - except for that testing done by an employer.14
Some would argue that the risks of the genetic test described should include
the potential for discrimination if the information were to be disclosed
to insurers or employers. Others strongly advocate that pre-test and post-test
counseling be mandatory, since patients often may not understand the implications
of genetic tests.15
This is especially true for the majority of genetic tests, which rather
than testing for present or future inevitable disease as do HIV tests,
instead give information about the probability of developing a
disease based on the test. For example, BRCA1, the first gene defect
marker identified for susceptibility to breast and ovarian cancer, puts
women at greater risk for premenopausal breast cancer, with a 59 percent
chance of developing the disease before age 50. The gene mutation also
is identified with a 44 percent risk of ovarian cancer by age 70.16
However, knowing that a woman has the marker does not mean that she will
get the disease, and of course, knowing that a woman does not have the
marker does not mean that she will be free of the disease. This information,
in turn, presents difficult choices in screening, prevention, and treatment
of a disease that is not yet manifest in the individual and may never
be. Thus, informed consent may need to encompass counseling to understand
the implications of the information.
Unlike most medical tests, genetic tests also can reveal more than just
information about the individual. They can have implications for the presence
of genetic disease in genetically related family members. In some cases,
genetic testing may reveal hidden information about paternity, namely
that an individual is not genetically related to a parent. Thus, informed
consent may need to include the risk of knowing more information than
a patient may have wanted to know about family members and knowing information
that other family members may wish to know about themselves.
Parental Right to Test Minor
Children for Adult Onset Diseases
Should parents have the right to have their minor children tested for
diseases that may have their onset in adulthood? Current ethical guidelines
recommend that children be tested only for serious diseases that manifest
themselves in childhood and that can be successfully treated, ameliorated,
or prevented. The guidelines recommend against genetic testing of children
for diseases that cannot be treated, or those that would manifest themselves
later in life, such as Alzheimer's. They also recommend against testing
for carrier states of diseases, namely genetic defects that would not
cause problems in the life of the child, but could cause problems for
that child's future offspring.17
One rationale for these recommendations includes arguments that if there
is no prevention or treatment, the burdens of the knowledge of the genetic
defect outweigh any benefit. Another rationale is that testing for adult-onset
conditions should wait until the person is a decisional adult. At present,
there is no Wisconsin law restricting a parent's ability to test a child
for any genetic condition. Should there be such a restriction, or should
a parent be able to have a child tested for any untreatable or future
genetic condition?
Confidentiality of Genetic
Information
Genetic test results are subject to the same protections as other medical
information in Wisconsin, including medical records laws and forthcoming
federal regulations on medical privacy. In Wisconsin, state law specifically
prohibits disclosing genetic information without the individual's consent.18
Experience with HIV testing, however, shows that keeping sensitive information
confidential may be difficult. In some situations, competing legal duties
- such as the duty to warn third parties who may be foreseeably endangered
- may counterbalance the duty of confidentiality. The Wisconsin Supreme
Court has found that physicians have a legal duty to warn a third party
who may foreseeably be endangered by a patient.19
One of the characteristics of genetic conditions is that they may have
implications for genetically related individuals. In fact, one of the
common initial procedures in determining whether and what kind of genetic
test should be done for an individual is to do a three generation family
history. Genetic information from one individual may be a harbinger of
disease in a genetic relative. Although there is no Wisconsin case on
point, it can be argued that if the danger posed by the possibility of
developing a disease - inferred from a relative's genetic information
- is significant, a physician may have a duty to warn the patient to inform
a related individual of the possibility of disease. If the patient does
not warn the genetic relative, the physician may have a duty to breach
confidentiality and warn the related individual. In Pate v. Threlkel,20
a Florida physician was found to have a duty to warn a patient that her
daughter may inherit medullary thyroid cancer, which he had failed to
do. In Safer v. Pack,21
a New Jersey appellate court held that a physician has a duty to warn
the daughter of a patient diagnosed with familial polyposis, a hereditary
condition that predisposes to colon cancer and might be prevented through
screening examinations.
How should confidentiality of genetic information be maintained and
under what circumstances should it be breached? What constitutes a significant
danger to another family member, how likely must that danger be, and who
has the duty to warn of this danger? If the patient who was tested does
not want the information disclosed, how should the physician proceed?
In many cases, the information will not be able to be disclosed without
identifying the patient by implication. These are all questions that remain
to be answered by the Wisconsin courts and legislature.
Discrimination in Employment
Should employers be able to screen for conditions that would predispose
workers to occupational illness? Arguably, there are benefits to testing
patients for susceptibility to workplace injury and disease, both for
the benefit of the employer to screen out employees who might become ill
or disabled from the workplace, and for employees who may wish to know
that they have an increased risk of harm from the workplace.
Recently, the U.S. Equal Employment Opportunity Commission (EEOC) filed
a petition in the Federal District Court in Sioux City, Iowa, to prevent
the Burlington Northern Santa Fe Railroad from running genetic tests on
blood taken from employees who had filed worker's compensation claims
for carpal tunnel syndrome, a common wrist injury.22
This practice was criticized on several counts, including scientific accuracy,
since the genetic test is not considered predictive enough to be used
as a general screening test.23
The Council on Ethical and Judicial Affairs of the American Medical
Association has found the practice of requiring genetic tests for employment
generally inappropriate, except in limited cases of rapid disease progression
because of rare genetic susceptibility, with requirements of accurate
genetic testing and informed consent.24
An American Management Association survey found acknowledgments of the
practice rare among employers (only seven of more than 2,000 employers
responded that they performed genetic tests on employees).25
Although the EEOC interpreted the Americans with Disabilities Act of
1990 (ADA)26
as prohibiting employer discrimination on the basis of a genetic disability,27
this has not yet been litigated. By Wisconsin law, employers may not require
genetic tests of employees;28
however, employees may willingly avail themselves of the employer-offered
test as long as the employee is provided written informed consent to testing
and testing is for the purpose of either investigating a worker's compensation
claim or determining the employee's susceptibility or level of exposure
to potential toxins in the workplace.29
While there is a possible benefit to an employee knowing in advance that
there may be a special workplace risk based on the employee's genetic
susceptibility, there also is the risk of future problems of employability.
Discrimination in Insurance
Underwriting
Both health insurers and life insurers make determinations of whether
an individual is insurable and how much that insurance should cost by
using the individual's health history and physical examination to estimate
the risks of disease and death. If an individual has information about
his or her predisposition to a disease and does not disclose this information,
the insurer will underestimate the costs of insuring the individual, and
the individual will not be paying the true cost of the risk of disease
or death. This phenomenon is termed adverse selection. Although insurers
reported problems with adverse selection with HIV testing, it is possible
that adverse selection by patients after genetic testing may be less of
a concern than initially expected. A recent study showed that women who
had been tested for BRCA1 do not use their test results to gain advantage
in the health or life insurance market, with patients who tested positive
carrying no more insurance than women who tested negative or who declined
to be tested.30
Should insurers have access to genetic information? Since insurers depend
upon accurate assessment of risk to set rates fairly, the potential for
imbalances in access to health information might support disclosure of
any tests voluntarily taken by the patient. In addition, there are policy
reasons why health insurers may be treated differently from life insurers.
Health insurance, while not a legal right, may be seen as more of a necessity
than life insurance. Health insurance in employment generally is available
to all employees without the requirement for an individual history, physical
examination, and testing. Nonetheless, there is a significant portion
of health insurance that is individually underwritten. Allowing health
insurers to test for future possibility of genetic diseases might increase
the number of individuals without health insurance, as many healthy persons
may be found to have otherwise unknown genetic susceptibility to disease.
Life insurance is most commonly individually underwritten so that the
insurer may accurately estimate the individual's life expectancy.
Wisconsin law does not allow health insurers to require any individual
to reveal the results of any genetic test.31
There is no similar provision for life insurers. Fourty-four states have
adopted statutes limiting access to the use of genetic information by
insurers,32
and Congress will be considering legislation to restrict genetic discrimination.
The Genetic Nondiscrimination in Health Insurance and Employment Act would
prevent insurance companies and employers from requiring genetic testing
and ban the use of genetic information to deny insurance coverage or to
set rates.33
Shifting Concept of Disease
The shift in the concept of disease may have significant impact on insurance
and disability law. Consider these two questions: Does an individual who
has the Huntington's disease gene (a gradually debilitating neurological
disease) but has not yet developed symptoms have a disease? Does a woman
who has the BRCA1 gene, and who requests a mastectomy to prevent the possibility
of breast cancer, have a disease? In the first question, the disease is
almost certainly inevitable but not yet manifest. In the second question,
the development of the disease is more likely than for someone who does
not have the gene, but by no means certain. Will "increased probability
of developing disease" become conflated with our concept of disease itself?
How will we define normal and abnormal? What kind of stigmatization will
occur for those who are diagnosed as genetically disadvantaged?
Other profound ethical questions may be no less compelling, many with
implications for the law, politics, and the future of society.
Paucity of Available Prevention
and Treatment
Although gene therapy clinical trials are under way (with one trial halted
due to the first reported death from gene therapy),34
there is a large gap between the number of diseases that can be diagnosed
from genetic tests and those that can be prevented or treated. Should
testing be performed when no treatment or prevention is available? What
will result from individuals learning this information? Nancy Wexler,
a clinical neuropsychologist at Columbia and president of the Hereditary
Disease Foundation (and whose mother died from Huntington's disease),
has publicly described her quandary as she considered whether to take
the test for the Huntington's disease gene. (She originally said she would
do so, but later said she had decided not to take the test, since knowing
she was negative would not make her much happier, and knowing she was
positive would make her very unhappy).35
Eventually she took the test, but chose not to reveal the result.
The relative lack of available treatment also applies to prenatal genetic
testing. This will not assuage the concerns of those morally opposed to
abortion. Since few of the genetic diseases identified prenatally can
be treated in the developing fetus, the information - often expressed
in probabilities rather than certainties - will in most cases result in
another ethically freighted decision as to whether to continue the pregnancy.
Ethical Issues of Human
Cloning
Soon after Dolly's unveiling, President Clinton asked the National Bioethics
Advisory Commission (NBAC) to issue a report on the ethical implications
of cloning.36
The report recommended a congressional ban, based upon safety concerns,
on all somatic cell nuclear transfer with the intent of creating a child.
While no legislative ban was enacted, the Food and Drug Administration,
claiming jurisdiction over cloning based upon safety and efficacy, has
banned the procedure until the safety questions are appropriately addressed.37
Cloning a human being is still far from practical, but it is no longer
impossible. Should there be a ban on the procedure even if it should be
proven safe and effective? Legislatures and other legal arenas inevitably
will address this ripening issue.
Reduction of Human Beings
to Their Genetic Inheritance
The new genetic technologies have given new fuel for the fire in the
nature versus nurture controversy. As we learn more about our genetic
legacy, will a new genetic determinism hold sway? Interestingly, the answer
is far from certain. Genetic sequencing appears to show that the concept
of race is at least as much a human construct as a genetic one, and various
DNA studies suggest a small group of distant human ancestors of us all.
Jared Diamond, in his book Guns, Germs and Steel,38
argues that the course of history of different populations has been more
dependent upon environment than biological and genetic differences. Genetic
legacy is not destiny.
The new genetic world of medicine will continue to have an impact on
the law, but more importantly, the law will serve to define, limit, and
shape the parameters of this new set of far-reaching scientific implements.
The profound legal, ethical, and social implications of the new genetic
technologies are fast upon us all.
Germline Genetic Engineering
The process of germline genetic engineering entails making changes in
the genes of humans before conception by repairing defects and inserting
or crafting new genes, controlling not only human reproduction, but eventually,
human evolution.39
Some have said that the Human Genome Project poses no new ethical questions;
but on its face, this new possibility of germline genetic engineering
raises a new ethical question: If we can change the fundamental genetic
structure of who we will be, who ought we to become?
At a genetics conference sponsored by the University of California -
Los Angeles, John Fletcher, former chief of bioethics at the National
Institutes for Health and professor of biomedical ethics at the University
of Virginia, said he saw nothing intrinsically unethical about germline
genetic engineering. Still, he was troubled by the idea of adding genes
for certain complex traits like "emotional stability."40
The ability to map the human genome and make changes in it will have given
humankind a powerful tool that may affect human evolution in profound
and unpredictable ways.
Endnotes
1 Wade N., Genome's Riddle: Few Genes, Much
Complexity, N.Y. Times, Feb. 13, 2001, at D1.
2 The Human
Genome Project Information Web site.
3 Durfy S.J., Grotevant A.E, The Human Genome
Project, 1991 Kennedy Inst. Ethics J. (1:347-362).
4 Gorner P., A Hot Sexy Story About the Lowly
Y [Chromosome], Chi. Trib., Feb. 18, 2001.
5 Illinois
Suspends Death Penalty, cnn.com (Jan 31, 2000), .
6 Lewin T., In Genetic Testing for Paternity,
Law Often Lags Behind Science, N.Y. Times, March 11, 2001, at A1.
7 Lander E., Ellis J.J., Founding Father,
396 Nature 13-14 (1998); commentary on 396 Nature 27-8 (1998).
8 Diamond
v. Chakrabarthy, 447 U.S. 303, 100 S. Ct. 2204, 65 L. Ed.2d 144
(1980).
9 Chartrand S., Patents: Part of Fierce Battle
Over Genetic Engineering, N.Y. Times, March 12, 2001, at C5.
10 McCarrick P.M., Genetic Testing and Genetic
Screening, 1993 Kennedy Inst. Ethics J. (3:333-354).
11 Wis. Stat. § 448.30.
12 Scaria v. St. Paul Fire & Marine Ins. Co.,
68 Wis. 2d 1, 227 N.W.2d 647 (1975), and Schreiber
v. Physicians Ins. Co. of Wis., 217 Wis. 2d 94, 579 N.W.2d 730
(1999).
13 Wis. Stat. § 252.15(1)(d).
14 Wis. Stat. § 111.372(4).
15 Weiss R., Ignorance Undercuts Gene Tests'
Potential, Wash. Post, Dec 2, 2000, at A1.
16 Shattuck-Eidens, D., et al., BRCA1 Sequence
Analysis in Women at High Risk for Susceptibility Mutations: Risk Factor
Analysis and Implications for Genetic Testing, 278 JAMA 1242-50 (1997).
17 Council on Ethical and Judicial Affairs, Code
of Medical Ethics with Current Opinions. Opinion §2.138, "Genetic
Testing of Children." American Medical Association, at 36-38 (2000-2001
ed.).
18 Wis. Stat. § 146.82(2)(a)(3).
19 Schuster v. Altenberg, 144 Wis. 2d
223, 424 N.W.2d 159 (1988).
20 Pate v. Threlkel, 661 So. 2d 278 (Fla.
1995).
21 Safer v. Pack, 677 A.2d 1188 (Sup.
Ct., App. Div. 1996).
22 Lewin T., Commission Sues Railroad to End
Genetic Testing in Work Injury Cases, N.Y. Times, Feb. 10, 2001, at
A7.
23 Wynia M., HNPP and Carpal Tunnel, MCW
Bioethics Discussion Forum, Feb. 19, 2001.
24 Council on Ethical and Judicial Affairs, American
Medical Association, Use of Genetic Testing by Employers, 266 JAMA
1827-30 (1991).
25 Court Case May Deter DNA Testing, Reuters,
Feb. 21, 2001.
26 42
U.S.C. § 12112(a).
27 EEOC Compliance Manual 902-45, Directive,
March 14, 1995.
28 Wis. Stat. § 942.07(3).
29 Wis. Stat. §§ 111.372(4)
and 942.07(2).
30 Women's Insurance Status Not Affected by
Cancer Gene Status, Reuters, Jan. 19, 2001.
31 Wis. Stat. § 631.89(2)(b).
32 Furrow B.R., et al., Health Law (Hornbook
Series, West Group, 2000) at 481, citing Mulholland W.F., Jaeger A.S.,
Genetic Privacy and Discrimination: A Survey of State Legislation,
39 Jurimetrics 317 (1999) (as of Jan. 15, 1999).
33 H.R. 2457/S.1322, the Genetic
Nondiscrimination in Health Insurance and Employment Act.
34 Weiss R., Penn Settles Gene Therapy Suit,
Wash. Post, Nov. 4, 2000, at A4.
35 Pence G.E., Classic Cases in Medical Ethics:
Accounts of Cases That Have Shaped Medical Ethics, with Philosophical,
Legal, and Historical Backgrounds (McGraw-Hill, 2d ed. 1995).
36 National Bioethics Advisory Commission, Cloning
Human Beings: Report and Recommendations of the National Bioethics Advisory
Commission, Rockville, Md., June 1997.
37 Nightingale S.L., Dear
Colleague Letter about Human Cloning, Dept. of Health and Human
Services, Food and Drug Admin., Oct. 26, 1998.
38 Diamond J., Guns, Germs and Steel: The
Fates of Human Societies (W.W. Norton, 1997).
39 Deneen E., A Genetic Glimpse: Ordering
Designer Children Like Pairs of Shoes, Chi. Trib., March 11, 2001,
at Sec. 13.
40 Kolata G., Scientists Brace for Changes
in Path of Human Evolution, N.Y. Times, March 21, 1998, at A1.
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