Should health care providers have a duty to warn family members of individuals with an HNPCC-predisposing mutation? A survey of patients
Background: The use of genetic testing for predisposition to diseases such as colorectal cancer has increased significantly in recent years. As genetics and medicine become increasingly intertwined, the issues of genetic privacy and doctor-patient confidentiality are being examined. Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a genetic predisposition to colorectal and certain other cancers. HNPCC is caused by mutations in DNA mismatch repair genes and is inherited in an autosomal dominant fashion. The existence of effective screening for carriers, with the potential to prevent colorectal cancer, is an important incentive for genetic testing for HNPCC-causing mutations.
Methods: A survey regarding whether physicians or genetic counselors should have a duty to warn their patients’ family members of the risks associated with an HNPCC mutation was mailed to 237 members of the Ontario Familial Colon Cancer Registry (OFCCR). Responses were analyzed quantitatively using The SAS System and qualitatively by identification of trends in written comments.
Results: Completed surveys were returned by 105 participants. There was a tendency for respondents to agree that family members should be informed of potential risks related to an HNPCC mutation in the family. Most participants specified they felt a personal responsibility to warn their relatives, but responses were mixed regarding whether physicians or genetic counselors should have a duty to warn relatives without a patient’s permission.
Conclusions: Patients undergoing genetic testing generally understand that their at-risk relatives should be informed of genetic risk, but may not be able or willing to inform each family member. Health care professionals should engage patients in a discussion of familial implications before genetic testing. An agreement should be formulated between provider and patient as to which relatives might benefit from the information and how to exert a reasonable effort to see that they are informed.