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
|
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). |
|
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.
Wisconsin Lawyer