6. IMPORTANCE OF CONTINUED RESEARCH AND PROFICIENCY TESTING

The clinical utility of mutation testing for breast and ovarian cancer genetic susceptibility cannot be assessed until information not now available is acquired. Research is especially needed on the clinical characteristics associated with individual mutations, including the age-specific risks for various types of cancer, the biological characteristics of these cancers, and the effectiveness of various strategies for their early detection and for their surgical or medical prevention. Research is also needed on the psychological impact of testing on the individual cancer patient, on at-risk relatives, and on family dynamics. Patients, even those with negative results or who choose not to be tested, should be encouraged to participate in such studies.

To the greatest extent possible, genetic testing for breast and ovarian cancer susceptibility should be offered to families in the context of research protocols. An added advantage to participating families is the protection afforded to them by "Certificates of Confidentiality", that can be obtained for Institutional Review Board (IRB) approved studies (Earley, 1995).

The complexity of mutation detection justifies instituting proficiency testing of laboratories offering diagnostic services. If mutation detection proves to be beneficial, more efficient and less expensive methods for mutation detection will be useful. In any case, cost-effectiveness must ultimately be taken into account.

The National Cancer Institute has recently organized a nationwide Cancer Genetics Network in order to assist providers and patients in both service and research activities (The Cancer Letter, 1996). Information may be obtained by contacting them at 1-800-4-CANCER.