Court Decision Ignores The Patient’s Right to Privacy in Gene Testing

NEW ORLEANS--In 1955, a man dies at age 45 of a hereditary type of colon cancer, yet his wife is told he had a bowel obstruction, not cancer. Now, 27 years later, the man’s daughter is your patient and you have diagnosed her with multiple polyposis and colon carcinoma. In constructing the daughter’s medical history, you discover the history of hereditary cancer in the father.

The daughter is outraged that nobody, including her father’s surgeon, told her of her potential risk for colon cancer. She sues the estate of her father’s now-deceased physician for failing to inform. Did that physician have a duty to warn her and other relatives? Do you have a duty to warn others now?

This scenario is an actual case that was argued before the New Jersey appellate court in 1996 (Safer v. Pack, 677 A.2d 1188). And although little was known about hereditary colon cancer syndromes in 1955, the plaintiff received a settlement from the physician’s estate.

The court issued a statement that physicians have a "duty to warn of a veritable risk from genetic causes" and that the duty is owed, not only to the patient, but also to members of the patient’s family who may be adversely affected by a breach of that duty. The statement further said that reasonable steps should be taken "to assure that the information reaches those likely to be affected or is made available for their benefit."

In this case, "the court did not consider that the patient may not have wanted the family to know about the cancer. The court seemed not to care. There are cogent arguments that this case was wrongly decided," Ellen Wright Clayton, MD, JD, said at an AMA-sponsored program on genetic medicine.

Other cases have been decided differently, she said. For example, in Pate v. Threikel (Florida, 1995, 661 So.2d 278), the court held that the physician’s legal duty is only to warn the patient of disease risk. In this case, the court found that "the patient ordinarily can be expected to pass on the warning. To require the physician to seek out and warn members of the patient’s family would often be difficult or impractical and would place too heavy a burden upon the physician."

Such cases illustrate the continuing controversy over the dissemination of genetic information vis-à-vis the patient’s right to privacy and confidentiality, said Dr. Clayton, associate professor of pediatrics and of law, Vanderbilt University.

The cases in which courts have imposed on physicians a duty to warn third parties largely pertain to infectious disease, especially HIV, and death threats by a mentally ill person. Such cases constitute exceptions to the protection of physician/patient confidentiality, which arise not from one monolithic legal source but from codes of medical ethics, conditions of licensure, contracts, statutes, and testimonial privilege, said Dr. Clayton, who is editor of the Journal of Law, Medicine, and Ethics.

When physicians breach confidentiality contracts, there are several grounds on which to impose liability on them for damages for unwanted disclosure of medical information. "But the frequency with which patients get damages for this is breathtakingly rare," she added.

The President’s Committee on Assessing Genetic Risks, in 1993, stated that a physician who discloses genetic information must be able to justify to the patient, an ethics committee, and perhaps the courts that the disclosure was necessary to avert some harm.

The Social Issues Committee of the American Society of Human Genetics further stated that "under certain narrowly defined circumstances, physicians may have a moral, but should never have a legal, obligation to warn their patients’ relatives about genetic risks."

Dr. Clayton interprets these statements as meaning that "we should hesitate to impose liability if a physician does not warn relatives," and cited a large body of commentary that physicians should not breach patient confidentiality. "However, the courts have said something different in Safer v. Pack. My opinion is that it is ethically permissible for a doctor to talk to relatives at risk, but that this should not be done on the basis of Safer v. Pack because we don’t want to turn this bad law into a law that governs us all!"

Who Is the Patient?

Mildred Cho, PhD, assistant professor at the University of Pennsylvania Center for Bioethics, advised physicians to determine "just who is your patient" when several members in a family become involved in a genetic testing conundrum. "You should understand your relationships and what patients think their relationship is to you," she said.

In fact, a physician does not have to offer genetic testing at all, if issues seem unresolvable. Patients can be referred elsewhere if the doctor is uncomfortable.

Informed consent should be taken very seriously in the setting of genetic testing, and should be much more extensive than informed consent for a standard blood draw or lab test, Dr. Cho said. Patients’ decisions have great ramifications for others, and they should not feel forced to consent to testing, she said.

The process of informed consent addresses a number of issues: Who is the patient, who wants the genetic information, who needs to have this information, and who should deliver the information. Discussions should cover the availability and necessity of genetic counseling, the voluntary and confidential nature of testing, and the costs to the patient.

The process also gives basic information about diseases and heredity, the purpose of testing, risks and benefits, interpretation of test results, and options for treatment and prevention.

The overriding fear that causes patients to reject genetic testing, however, is not reprisal from family members but discrimination from third-party payers and employers. Physicians in the audience were particularly concerned about documenting genetic risks in patients’ charts. Several speakers suggested that physicians keep genetic testing results separate from patients’ other medical records; however, some pointed out that the inclusion of a detailed family history could also arouse insurers’ suspicions.

The Health Insurance Portability Act disallows positive genetic test results from being considered a pre-existing condition. Insurers may not use genetic status to set higher premiums or exclude persons from plans. But this applies solely to group policies and thus does not protect all individuals, said Dr. Francis Collins, director, National Human Genome Research Institute. "More legislation is needed to plug these loopholes," he said.