Disclosure Issues in Cancer Gene Testing Worry Doctors

NEW YORK—With new tests, it is easy to identify certain gene mutations associated with a predisposition to cancer. But it is more difficult to deal with the social and legal consequences of those tests, a panel of experts said at a briefing organized by the American Society of Clinical Oncology (ASCO) and entitled "The Human Genome and its Implications for Cancer." Kenneth Offit, MD, MPH, discussed a case that he faced at Memorial Sloan-Kettering Cancer Center, where he is chief of the Clinical Genetics Service, Department of Human Genetics.

What do you do when a patient’s genetic test indicates that the patient has a genetic predisposition to cancer, but the patient doesn’t want to tell her family? What are the limits of the need to respect patient autonomy? he asked.

In this case, a woman had ovarian cancer and tested positive for a hereditary gene mutation associated with the cancer. Eventually, the woman died of her disease. "We knew that she had nieces and that they were unaware of this risk," he said. But the only member of the family they could locate was the patient’s mother—the grandmother of the children at risk.

The grandmother said, "Enough with the testing already. I don’t want to hear any more about this. Leave it alone. Whatever you do, don’t bother my family any more."

"But," the genetic counselor told the grandmother, "if your granddaughters knew about this, they would benefit from it." Still, Dr. Offit said, the grandmother refused to cooperate.

The physicians consulted with the hospital ethics panel. After considerable discussion, it was agreed that they would send a certified letter to the grandmother, notifying her that they had important information for her and asking her to allow them to counsel her. "That’s the best we could do," Dr. Offit said.

Two years later, the grandmother died, and the children, going through her estate, found the certified letter and will soon be tested. "So the information was communicated in the end," he said.

Divided Courts

US courts have given conflicting orders about what to do in situations such as Dr. Offit described. The Florida courts held that the doctor’s only obligation is to warn the patient, who in turn should warn the family. But another court in New Jersey held that the doctor’s obligation is to warn the family as well, said Dr. Offit, who discusses the cases in his book, Clinical Cancer Genetics: Risk Counseling and Management (Wiley-Liss, 1998).

In the Florida case, a woman was treated for medullary thyroid cancer. Three years later, her daughter was diagnosed with the same condition. The daughter sued the doctor, claiming the doctor should have warned the mother to seek testing for her daughter [Pate v. Threlkel 661 So.2d 278 (Fla. 1995)].

The Florida Supreme Court decided that to require a physician to seek out and warn all the members of the patient’s family would be difficult and place too heavy a burden on the physician, Dr. Offit said. "This is a reasonable standard and most often appropriate," he said. "You inform the individual, and the individual informs the family."

In the New Jersey case [Safer v. Pack 677 A.2d 1188 (N.J. 1996)], a woman had familial adenomatous polyposis (FAP) and ultimately developed colon cancer. She knew her father had died of colon cancer more than 40 years earlier and, more recently, had found out that her father also had FAP.

The father had told his physician, George T. Pack, MD, not to share the details of his condition with his family. The daughter sued the physician’s estate, arguing that Dr. Pack, now dead 20 years, had a duty to inform her.

Eva Peròn Never Told of Cancer

Dr. Pack had operated on Eva Peròn (wife of Juan Peròn, president of Argentina from 1946 to 1955) in 1951 and was the subject of a recent article in The Lancet [Lerner BH: The illness and death of Eva Peròn: Cancer, politics, and secrecy. Lancet 355:1988-1991, 2000].

Peròn, who died in 1952, never knew she had cervical cancer, "to give you an idea of the different ethical milieu of the time," Dr. Offit pointed out.

During the course of the New Jersey case, it was found that the daughter’s chart recorded a rectal examination as a child, and Dr. Pack’s estate successfully argued that this indicated the mother had been informed.

The New Jersey court, in effect, rejected the Florida court’s conclusion. The New Jersey court said that when a hereditary risk can be averted, the physician’s duty to warn extends ". . . beyond the interest of the patient, to members of the immediate family who may be adversely affected. We need not decide in the present posture of this case how precisely that duty is to be discharged, especially with respect to young children who may be at risk, except to require that reasonable steps be taken to insure that the information reaches those likely to be affected."

A Lawyer Offers Reassurance

In an interview with ONI, a lawyer offered some reassurance for doctors who have to make these decisions. "The courts don’t really want to make the doctor’s job impossible," said Lynn D. Fleisher, PhD, JD, counsel at Sidley & Austin, Chicago, and legal counsel to the American College of Medical Genetics, Bethesda, Maryland.

The Florida court "held that doctors do have a duty to warn family members, but that duty is satisfied by warning the patient," she said. The New Jersey court held that the duty might not be satisfied by warning the patient, she said. The New Jersey court also recognized that "someday the court might have to solve a conflict between the duty to warn and the duty of confidentiality."

So what does a lawyer tell a doctor who asks, "What should I do?" "There’s no one answer," Ms. Fleisher said. "Ultimately, the doctor has to do what he or she thinks is right. It’s very fact specific. It depends on the genetic relationship, how likely the relative is to get the disease, how serious the disease is, and how much they will benefit from knowing."

Various genetics groups have issued policy statements on this issue, Ms. Fleisher said. "They all say that you should try to convince your patient to share the information. Where they differ is on if and when you can violate confidentiality when the patient says no," she told ONI.

When lawyers advise clients, they consider what is right and also what is expedient, she said. Physicians can weigh the potential damages that would result from being sued by a patient for breaching patient confidentiality and being sued by a family member with cancer for not being warned.

"My guess is that a breach of confidentiality would cost you less, because it’s intangible," she said. "It’s hard to imagine a jury awarding great damages to a patient because the doctor warned a relative about a genetic condition that the patient didn’t want them to know about."

Ms. Fleisher stressed that cases of familial nondisclosure are rare. "You don’t have to deal with them frequently," she said, "but you do have to deal with them." She added that physicians are making their best judgment as to what to do in a particular situation, "and there’s nothing to suggest that there are a large number of lawsuits about disclosures to family members. So there’s no great crisis."