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Clinical Genetics and Genetic Counseling

Professional Challenges in Cancer Genetic Testing: Who Is the Patient?

Massachusetts General Hospital Cancer Center/Center for Cancer Risk Assessment, Boston, Massachusetts, USA

Key Words. Duty-to-warn • Genetic testing • Family dynamics • Patient confidentiality

Correspondence: Correspondence: Gayun Chan-Smutko, M.S., C.G.C., 55 Fruit Street, YAW9A, Boston, Massachusetts 02114, USA. Telephone: 617-726-0292; Fax: 617-726-9418; e-mail: gchansmutko{at}partners.org; web site: http://massgeneral.org/cancer/care/adult/risk/index.asp

Disclosure: No potential conflicts of interest were reported by the authors, planners, reviewers, or staff managers of this article.

In the genetic counseling setting, the health care provider can be challenged by opposing duties to members of the same family: protecting the privacy of the patient identified with a gene mutation and the ethical obligation to warn at-risk relatives. In a situation of nondisclosure between members of a family with a known disease-predisposing mutation, this type of dilemma can present in acute form for the provider who cares for different members of the family. This can hinder effective medical decision making. To minimize this effect, we recommend detailed pretest genetic counseling steps to empower the patient to communicate with their at-risk relatives their intent to pursue testing and willingness to share information. In addition, post-test counseling should reiterate the implications of a positive result for at-risk relatives and conclude with a written summary that patients can share with their family.