The New Genetic World and the Law

Sidebars:

• Prosecutors and defense attorneys agree on Wisconsin DNA evidence legislation
• Convention Session Focuses on DNA Testing

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

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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