Docs' Dilemma: Do We Tell Family?

Advances in genetic testing are straining the sacred bond of confidentiality between doctor and patient as physicians grapple with whether to keep private diagnoses that might also afflict patients' relatives.

Failure to warn family members about genetic risks has already resulted in several lawsuits, including a Minnesota case involving two children born with inherited mental retardation.

Another scenario involves women diagnosed with inherited breast cancer, whose female relatives might unknowingly carry the same defective gene and might want to start early mammograms or even have their breasts removed — as some women with the gene defect have chosen.

The issues could ultimately affect all patients as scientists discover that people's genetic makeup has medical implications including how well they respond to specific medicines, said University of Minnesota ethicist Jeffrey Kahn.

The issues are outlined in an article in Wednesday's Journal of the American Medical Association by doctors and legal experts who argue against imposing a mandatory "duty to warn" nonpatients.

"The cornerstone of the patient-physician relationship is the assurance of confidentiality," according to the article by Dr. Kenneth Offit, a Memorial Sloan-Kettering Cancer Center researcher, and colleagues.

Saddling physicians with the duty to warn relatives "would make the patient-physician relationship subservient to a more diffuse public health obligation," and would likely violate recent federal privacy laws, the article said.

It also would be impractical for doctors to try to reach "an untold number of their patients' relatives who might be at some unspecified risk from genetic predispositions," the article said.

Even if all relatives could be reached, "each would require counseling and education that would impose completely unrealistic burdens on the physician," Offit and colleagues argued.

Offit said he faced the dilemma when a patient died from breast cancer. Though the confidentiality principle generally extends beyond a patient's death, this patient died before learning her disease was genetic and Offit wanted to notify her college-age daughter that she, too, might be at risk.

His only contact was the patient's mother — the young woman's elderly grandmother — who had had breast cancer at an early age. The old woman did not even to want to discuss the issue.

"She responded, 'Enough of this talk about cancer. I don't want my family to hear any more of it,'" Offit said. He did not pursue the issue any further.

Amalia Rigoni, who underwent genetic testing after her breast cancer was diagnosed four years ago, says revealing such results should be the patient's decision.

Rigoni, a Chicago-area hotline counselor for Y-ME National Breast Cancer Organization, said she told her female relatives that she was undergoing the testing, and "would have had a problem" if her doctor had done so.

"I firmly believe in the confidentiality of the patient and the doctor," said Rigoni, 46. Encouraging doctors to breach that bond in genetic testing cases "opens the floodgate for other stuff leaking out," said Rigoni, whose test results showed she didn't have the breast cancer gene.

In the Minnesota case, Kimberly Molloy, a Minneapolis-area woman, says she wouldn't have conceived another child if she'd known her first had the condition, called fragile X syndrome. She claims doctors were negligent in not testing her first child for the condition.

The Minnesota Supreme Court in May allowed that lawsuit to proceed in a ruling that some say broadens the definition of who is considered the patient in cases involving genetic diseases.

The ruling is a dangerous precedent that "is going to unnecessarily expand the liability of doctors in today's world. It's going to open up a Pandora's box that may need to be remedied legislatively," said attorney Katherine McBride, who represents one of the Minneapolis doctors being sued.

The JAMA writers said doctors should follow guidelines from medical groups including the AMA, which last year adopted a policy that says doctors should explain to patients the implications genetic testing might have for their relatives.

In some cases, doctors should explain that patients should disclose test results to potentially affected relatives, and doctors should offer to take part in that process, the AMA policy says. It implies doctors should not insist on disclosing such information, nor should they feel coerced to do so.

Without confidentiality, patients might not seek medical care, said Dr. Robert Sade, a member of the AMA's Council on Ethical and Judicial Affairs.

"The frightening aspect ... is that physicians can be sued whether they do or they don't" inform relatives, Sade said. "They're really between a rock and a hard place."

By Lindsey Tanner