Ethics Corner: Duty to Inform
by Beth A. Pletcher, MD, February 1999

Several recent court cases, including one in the state of New Jersey, have focused on a physician's responsibility when it comes to informing family members about their risk for disease when a diagnosis is made in a given patient. The New Jersey case of Safer v. Pack revolves around the diagnosis of familial adenomatous polyposis (FAP) made in an adult male who subsequently died of colorectal cancer. His physician Dr. Pack, now himself deceased, allegedly failed to notify the family about potential risks for transmission of this condition to offspring of this patient. The adult daughter of Dr. Pack's patient was diagnosed with colorectal cancer herself and is suing the estate of Dr. Pack for failure to inform her of her own health risks.

When this case was tried in court, the suit was dismissed on the basis of a decision that a physician has no obligation to inform a child of a patient about a potential genetic risk. However, on appeal in the state Superior Court, the judges ruled that there is a duty to inform third parties at risk and that physicians need to take reasonable steps to insure that medical information such as this reaches or is made available to those individuals who are likely to be affected. Based upon this ruling, the case was sent back to trial court and we anxiously await a final decision. Interestingly, a case tried in Florida Supreme Court in 1995 (Pate v. Threlkel) on this very subject found that while physicians have a duty to warn family members about foreseeable genetic risks, this information can be transmitted to the patient only and the patient told to inform at risk family members.

Although the New Jersey case has yet to be settled, it brings up several issues of concern to practitioners. First, when does a relative's "need to know" supercede a patient's right to privacy? To what lengths must a provider go to contact at risk relatives and who should be contacted? Do we really need to phone or write to parents, adult children, sisters, brothers, aunts, uncles or cousins of a patient who is found to have a serious autosomal dominant condition? Apart from our responsibility to our own patient, is this a practical expectation when family members may be far away or fragmented by divorce etc.?

Fortunately for those of us practicing in New Jersey, the NJ Genetic Privacy Act enacted in 1996 provides protection to physicians. It clearly states that the results of genetic testing cannot be released to anyone without specific, written informed consent from the patient. This seems to conflict with the current status of Safer v. Pack where duty to inform may outweigh a patient's right to privacy. While we wait for the Genetic Privacy Act regulations to be published in anticipation of additional guidance for medical professionals, it seems reasonable for providers to take a neutral stance. Some possible suggestions might include:

• When ordering a genetic diagnostic test that may have implications for family members, discuss with the patient how he or she would handle the results if they were positive.

• Determine ahead of time which relatives may be at risk and along with the patient develop a game plan such as " If I test positive I feel comfortable approaching my parents about having testing themselves to determine if any relatives on either side of the family are at risk".

• If a patient tests positive, it may be helpful to document this result in a letter to your patient and include which relatives may also be at risk and may wish to consider testing themselves.

• Testing of minors presents an even more difficult issue; in general, presymptomatic testing for late onset conditions without health consequences (i.e. Huntington disease, breast cancer or hereditary non-polyposis colorectal cancer) should be deferred until the child reaches maturity and can decide for himself or herself.

• On the other hand, testing of minors may be considered for conditions with earlier onset which require initiation of screening in childhood. Examples of such conditions might include: neurofibromatosis, von Hippel Lindau, multiple endocrine neoplasias, hereditary medullary carcinoma of the thyroid or FAP.

• As providers it seems prudent to allow our patients to act as liaisons between us and their family members when any diagnosis is made. Patients should be encouraged to discuss a diagnosis with relatives at risk; physicians, nurse practitioners or genetic counselors may serve as resources for family members. For relatives living out of town, providers in their own geographic regions may be identified who can assist them in obtaining genetic counseling prior to pursuing genetic testing.

• More than ever we need to be cognizant of the serious implications of genetic testing and to make sure that we obtain truly informed consent before proceeding with genetic testing. Patients have the right to know up front the meaning of a positive or negative test result, implications for family members and management recommendations for individuals who test positive. Concerns about insurance or employment discrimination may also come up and should be addressed before testing is done.