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Genetic Privacy: A War Fought on Many Fronts

While genetic testing offers benefits from disease detection to casualty identification, it also creates a slew of legal and ethical questions.

Published June 1, 2002

By Mary R. Anderlik and Mark A. Rothstein
Academy Contributors

In 1995, U.S. Marine Lance Corporal John C. Mayfield III and Corporal Joseph Vlacovsky — along with many other U.S. service men and women — were told that DNA samples would be collected as part of a medical examination. Such testing had become routine since December 16, 1991, when the deputy secretary of the U. S. Department of Defense issued a memorandum launching its ambitious program to collect DNA samples from all members of the armed forces, active and reserve.

Unlike their comrades, however, Mayfield and Vlacovsky refused to provide the samples. Commented Vlacovsky: “I expected to give up some privacy when I joined the military, but not something I held so close.” Mayfield worried about the potential for abuse, given a historical record that included exposure of troops to radiation, LSD, and Agent Orange. A legal battle cry in the nascent war over genetic privacy was sounded.

DNA is not difficult to obtain. Initially, “collection” consisted of a finger prick to produce a pair of half-dollar sized blots of blood on paper cards and a swab of the inside of a cheek to scrape off epithelial cells. Cheek swabs were eventually discontinued due to storage problems. Samples are transported to the military’s DNA repository, a large warehouse in Gaithersburg, Maryland. A small cadre of workers at the warehouse processes and catalogs the samples, which are stored on trays in gigantic walk-in freezers. Over its history, the repository has been accessed over 700 times in support of human identification; the current inventory is 3.6 million specimens.

More Accurate Accounting of Casualties

The military contends that the DNA collection and identification program serves a laudable goal. Operation Desert Storm served as a catalyst for creation of the repository. The fragmentary remains of some soldiers who perished in that war proved difficult to identify by traditional means, such as dental records and fingerprints. DNA typing allows a more accurate accounting of casualties and brings closure for families caught in limbo between grief and hope. This was recently demonstrated, for example, when specimens in the DNA repository were used to identify some victims of the September 11, 2001, terrorist attack on the Pentagon.

Mayfield and Vlacovsky were not persuaded by these arguments and resisted sharing their genetic material even when that resistance led to court-martial. The two marines asserted that the collection, storage and use of their DNA violated their constitutional rights to due process, privacy, freedom of expression and freedom from unreasonable searches and seizures.

In legal terms, the search and seizure charge had the best prospects for success. Mayfield and Vlacovsky conceded that the military’s stated purpose for the registry was benign. But they claimed the risk remained that in the future the DNA samples would be used for other purposes, such as diagnosis of hereditary diseases or disorders, and that information would be disseminated to potential employers, insurers and others with an interest in the information.

A federal district judge in Hawaii refused to consider such “hypothetical” future uses and misuses. The judge concluded that the military had a compelling interest in obtaining DNA and that the “minimal intrusion” of taking blood samples and oral swabs, while a seizure, was not unreasonable.

What Constitutes ‘Privacy’?

While the case was on appeal, the marines were honorably discharged, without providing blood or tissue samples, and the judgment of the district court was vacated as moot. Hence, the legality of mandatory DNA collection by the military has yet to be decided.

The military case is unique in some respects, but the case of the two marines raises issues of general significance. In the context of genetics, the concept of “privacy” can encompass at least four categories of concern: 1) access to bodies and personal spaces; 2) access to information by third parties and any subsequent disclosure of this information by third parties; 3) third-party interference with personal choices and denial of opportunities; and 4) ownership of biological materials and personal information.

Advocates of restrictions on the collection and use of genetic material and information generally focus on what is different about DNA — and about the technologies that allow human beings to use DNA for purposes that might include commercial exploitation and discrimination. One feature of genetic information often cited as distinctive is its predictive nature. Many genetic tests detect a disorder that has not yet manifested in symptoms, or a mutation that puts a person at above average risk of a disease. Most genetic tests, however, are not sufficiently precise to allow prediction of the time of onset of disease, or the severity of a disease if and when it develops.

The Limits of Genetic Testing

Genetic testing for mutations associated with disease is of questionable value to the individual when neither cure nor prevention is possible. For example, many people choose not to be tested for the mutation that causes Huntington disease. When preventive care is available, such as with more frequent mammograms or prophylactic mastectomy as in the case of the BRCA1 and BRCA2 mutations associated with heightened risk of breast cancer, genetic testing may have considerable value.

Many people will be reluctant to undergo testing or participate in genetic research without assurances of confidentiality and protections against discrimination. Insurers and employers may be interested in information that is even crudely predictive of future disease and disability; the potential for unfairness to particular individuals may count for little given the potential cost savings from identification and exclusion of numerous high-risk individuals.

Flexible Concerns and Other Anxieties

The significance of genetic information for whole families, and not merely individuals, is also offered as evidence of the distinctiveness of genetic information. For inherited disorders, the revelation that one person is affected has implications for others who are biologically related; testing may also reveal a lack of biological relatedness (misattributed paternity), a trigger for another sort of problem.

Genetic testing also creates difficult dilemmas for those who are contemplating parenthood. Information related to any serious genetic disorder affects reproductive decision making in ways that are profound. The potential for disclosure of sensitive information and discrimination in such circumstances may add to a sense of confusion or distress in weighing the risks and benefits of information-seeking. It certainly increases the burden on those who are the bearers of knowledge and must consider the costs of its communication to siblings and descendants.

Genetic material also may reveal information beyond what was originally contemplated and serve purposes other than those for which it was originally obtained. With each advance in technology, DNA offers up more and more of its secrets. While many researchers and law enforcement professionals view this feature of DNA as a reason for preserving samples indefinitely, many privacy advocates view the same feature as a reason for prompt destruction following completion of the immediate analysis.

Stigmatization is another concern. Although genetic conditions do not excite the fears associated with infectious disease, the individual who is found to have a “genetic defect” may readily be viewed as a “genetic defective,” a person of lesser worth.

Nothing New?

While advocates of genetic privacy stress these distinctions, opponents of restrictions minimize the differences between genetic information and other kinds of personal information. Like the judge in the case of Mayfield and Vlacovsky, they may focus on the simplicity of the DNA collection process rather than the nature or potential uses of the DNA itself. They may argue that using DNA for identification purposes is not much different from using fingerprints for identification purposes — if we are comfortable with the later practice, how can we object to the former?

Even the distinctiveness of genetic information as predictive is open to challenge. Cholesterol tests, frequently required by insurers in the medical underwriting process, are considered useful because of their predictive value. Again the question arises, if we permit insurers to review the results of cholesterol tests in medical records, is it illogical to object to similar practices in relation to predictive genetic tests?

The New York State Task Force on Life and the Law, in its report Genetic Testing and Screening in the Age of Genomic Medicine, concludes that while “genetic testing shares characteristics with other forms of medical testing,” DNA-based testing is distinctive in its “long-range predictive power” and its capacity to reveal sharing of genetic variants “at precise and calculable rates,” among other things.

Genetic Privacy in the Information Age

Genetic advances must be considered along with other developments, such as the advent of electronic record keeping, managed care, and the ongoing consolidation in the insurance, banking and health care sectors. Never before has information exchange been so easy or profitable. If documented cases of genetic discrimination are rare, this may be due to the infancy of the technology, and the influence of genetic privacy laws already in place.

Thus far, lawmakers have been most ready to address the consequences of new genetic technologies for health care, health insurance and employment. In health care, confidentiality has long been understood as a crucial precondition to the therapeutic relationship. In the Hippocratic Oath, the physician swears that “Whatever, in connection with my professional service, or not in connection with it, I see or hear, in the life of men, which ought not to be spoken of abroad, I will not divulge, as reckoning that all such should be kept secret.” Laws providing for the confidentiality of physician-patient communications limit disclosure by providers of health care, but they typically permit use of blanket releases by insurance companies and other third parties.

A majority of states now have laws that specifically relate to genetic privacy. The most comprehensive include general provisions covering genetic testing and the handling of genetic information. About half prohibit genetic testing without prior informed consent, subject to exceptions such as law enforcement, paternity determination, court order and anonymous research. These laws often contain a statement that genetic information is confidential, or “confidential and privileged,” meaning that it is protected from subpoena in a civil proceeding, although production can still be compelled by a court order. Disclosure of genetic information to a third party without written authorization is generally prohibited.

Genetic Privacy Laws

Genetic privacy laws often prohibit insurers and employers from requiring genetic testing as a condition of insurance or employment and from discriminatory use of any genetic information obtained. Privacy advocates have long argued that these protections are fairly meaningless if insurers and employers can persuade or pressure unsuspecting individuals into submitting to genetic testing or sharing genetic information.

Once a third party has possession of information, it is difficult to police its use. To address these problems, some states prohibit covered insurers and employers from even requesting genetic testing or genetic information. In the area of insurance, a major issue is breadth of application of these laws. Many states limit special privacy protections for genetic testing and information to health insurance, leaving individuals with few or no safeguards in their dealings with life, disability income and long-term care insurers, among others. States vary in the sanctions imposed for violations of privacy protections. In most states, a violation is a misdemeanor punishable by fine or jail time or both; a willful violation may be a felony.

Genetic privacy laws are typically silent on the issue of retention of biological specimens obtained or retained for the purposes of genetic testing. A few states require destruction of samples upon specific request, or after the purpose for which the sample was obtained has been accomplished. The New York law requires that the sample be destroyed at the end of the testing process or not more than 60 days after the sample is taken, unless a longer period of retention is expressly authorized. Laws that require destruction of samples typically include exceptions for research and law enforcement.

Children Evoke Thorny Issues

Genetic testing of children also has provoked heated discussion. Disagreement is sharpest where the testing is for an adult onset condition that cannot be prevented, ameliorated or cured by any action taken during childhood.

In such cases, it is hard to argue that testing confers any benefit on the child or the parents. The general rule is that parents control medical decision making for their children.

Similarly, thorny issues may arise in the context of adoption. Prospective adoptive parents may insist that a child undergo genetic testing for inherited disorders before they proceed with adoption, especially if a genetic link is or appears to be found for a serious mental illness.

Genetic information is increasingly being sought in other contexts. Defendants in personal injury lawsuits may be eager to prove that injuries resulted from the plaintiffs’ genetic defects rather than their own negligent conduct.

As noted above, state laws may declare that genetic information is privileged and hence protected from routine discovery in the investigational phase of a civil proceeding. However, a judge may order testing or disclosure of information if persuaded of its relevance.

For example, a defendant in a lawsuit arising out of an automobile accident sought to compel genetic testing of the plaintiff for Huntington disease, as a possible causal factor, and the court ordered the testing over the plaintiff’s objections.

Looking Forward

Genetic information is often very powerful in its ability to identify individuals or predict future health. But with its power comes the potential for harm — both through the mere disclosure of genetic information and through the use of the information to deny opportunities.

With regard to genetic privacy, if public policy has lagged behind the science, it is largely because the public understanding (and that of decision makers) has lagged behind as well.

Without broader public education about the promise and peril of genetic information, it will be impossible to develop sensible policies on genetic privacy. As H. G. Wells wrote in 1920: “Human history becomes more and more a race between education and catastrophe.” This observation is still true in the genetic age.

Also read: AI and Big Data to Improve Healthcare

About the Authors

Mary R. Anderlik, Ph.D., received a J.D. from Yale Law School and is an Associate Professor at the Institute for Bioethics, Health Policy and Law, and in the Department of Medicine at the University of Louisville School of Medicine. Professor Mark A. Rothstein holds the Herbert F. Boehl Chair of Law and Medicine and is Director of the Institute of Bioethics, Health Policy and Law at the University of Louisville.


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