The Dilemma of Confidentiality in Huntington DiseaseARTICLE
Authors: Courtney Wusthoff
Journal: JAMA (2003)

AS GENETIC TESTING ADVANCES, PHYSICIANS FACE DILEMMAS in the disclosure of results: Is genetic information the confidential property of tested individuals, or do biological relatives also have rights to this information? Faced with a dilemma such as that posed by a mother’s refusal to inform her daughter of her Huntington disease (HD), the physician first must clarify his or her responsibilities to both patients. Obligations to the mother include confidentiality, respect for autonomy, and nonmaleficence. Recently, the American Medical Association (AMA) affirmed the importance of keeping genetic information confidential. While the AMA policy acknowledges that there are instances in which genetic information should be disclosed to relatives, it clearly states that only in exceptional circumstances would a physician be allowed to break confidentiality to do so. In addition to confidentiality, the physician must respect the mother’s autonomy. The mother has the right to choose whether to share her diagnosis with family members and to what degree she would like them involved. For the physician to override this decision would constitute paternalism—substituting his or her own judgment for the patient’s. Finally, the mother has forbidden the physician to inform the daughter, as she feels disclosure would distress both her and her daughter. The physician’s first responsibility, to do no harm, suggests that he or she must comply with this request. The act of breaking the mother’s trust alone could be considered harmful and could be perceived by the mother as abandonment. Then she would not only be ill but also in conflict with her physician. However, the physician also has responsibilities to the daughter, including a duty to be honest with her. In this situation, such a duty would require the physician to fully inform the daughter of factors to consider in planning a pregnancy, including her family history of HD. Beneficence may also dictate that the physician share this information with the daughter. She could benefit from knowing of her own risk of HD; she may choose to be tested for the mutation and consider her life plans accordingly. If she learns of her risk prior to making decisions regarding reproduction, she may opt to not have children. She may also consider options such as prenatal diagnosis, ovum donation, and adoption. Indeed, one study found that among HD carrier couples, one third chose not to have children and one third chose prenatal diagnosis. It may even be argued that the daughter’s autonomy depends on such knowledge. As her mother is the only source of information about her genetic risk, and her risk is much elevated beyond that of the general population, the daughter must be informed of the risk to truly exercise self-determination. Unfortunately, the obligations to the mother and those to the daughter seem to conflict. The ideal solution to such a conflict would be a compromise in which the physician avoids breaking confidentiality with the mother yet also allows the daughter to become aware of all information relevant to her decision regarding pregnancy. Such an outcome might be accomplished with time and open communication with both mother and daughter. The physician could explore the mother’s motives for secrecy. First, it must be ensured that her request reflects her true wishes. One feature of HD is personality change, including obstinacy. The physician must determine that the mother has sufficient mental capacity to make an informed decision. Assuming that she does, the physician could then discuss the full implications of secrecy for her daughter. It would also be worthwhile to discuss the fact that eventually, her symptoms will become more apparent, and she may require greater care and support from her family. As the illness will probably become obvious at some point, it is worth learning what the mother hopes to gain by keeping it a secret now. The physician might also suggest degrees of compromise, such as allowing him or her to disclose that there is a family history of HD without stating that the mother has been diagnosed. Such a conversation need not be coercive or pejorative, but rather seek to address these relevant issues in a straightforward fashion. It is possible that as the mother comes to terms with her diagnosis and considers the implications of strict confidentiality, she will want to disclose her diagnosis to her daughter. One model of understanding how patients handle a diagnosis of HD describes an “incipient stage” of coping. In this preliminary stage, the patient has not fully accepted the implications of the diagnosis and can respond only with shock, anxiety, or denial. Patients in this stage may alienate themselves from others and resist confronting their own diagnosis. It is important to recognize that such feelings may only be present for a few months. One study found that depression and anxiety are most common in the first 2 months after diagnosis, but for most patients, such symptoms resolve within 1 year. Eventually, as the mother goes through the process of grieving and accepts the diagnosis, she may no longer deny the reality or impact of disease and may be more willing to share her diagnosis. In time, she may see that sharing her diagnosis could have great benefits for herself, in securing emotional support and relieving guilt and shame, as well as for her daughter, who would be able to make her own informed decisions about testing and life planning. The patient must be given the opportunity to come to this stage of acceptance. If the physician were to disclose the diagnosis to the daughter immediately, he or she would deprive the mother of the opportunity to talk with her children herself. Furthermore, he or she would betray the trust inherent in the patient-physician relationship and may even