Beth N. Peshkin, MS | Authors

Genetic Testing: The Bigger Picture

May 15, 2012

Schrader and colleagues provide four compelling examples of the power of genetic testing to impact medical management for probands and their family members.

Evaluation and Management of Women With BRCA1/2 Mutations

October 01, 2005

Genetic counseling and testing for susceptibility to breast and ovariancancer is often an integral component of management for womenwith a personal and/or family history of these malignancies. In thisarticle, we will briefly review the function and genetic epidemiology ofthe two major susceptibility genes, BRCA1 and BRCA2. We will thenaddress approaches to risk assessment for women at high risk with respectto the probability that they harbor a deleterious mutation in oneof these genes, and the likelihood that they will develop cancer if sucha mutation is identified. The process of genetic counseling and testingis discussed, including a summary of the potential benefits, limitations,and risks of testing as well as a summary of test result interpretation.We conclude with a review and appraisal of the various options forbreast and ovarian cancer risk reduction and screening options forwomen with a BRCA1 or BRCA2 mutation.

Role of the Genetic Counselor in Familial Cancer

February 01, 1996

The authors have compiled an excellent summary of the basic components of cancer risk counseling and the role of the genetic counselor in this process. They note that such counseling may have a different scope, depending on the individual's level of risk. They also point out that the approach to each case tends to be unique, due to individual psychological concerns, interpretation of family history and available risk data, and options for genetic testing and prevention or early detection. I would like to expand on the topics discussed in four major areas: counseling cancer survivors, the role of oncologists and primary-care physicians in cancer risk counseling, informed consent issues, and directions of current and future research.