Affiliations: [a] Department of Genetics and Genomic Sciences, Mount Sinai Medical Center, New York, NY 10029, USA | [b] Good Samaritan Hospital Medical Center, West Islip, NY 11795, USA | [c] Monmouth Medical Center, Long Branch, NJ 07740, USA | Georgetown University, 3300 Whitehaven Street, NW, Suite 4100, Washington, DC 20007, USA
Correspondence:
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Corresponding author: Karen L. Brown, MS, CGC, Department of Genetics and Genomic Sciences, Mount Sinai Medical Center, One Gustave L. Levy Place, Box 1497, New York, NY 10029, USA. Tel.: +1 212 241 6947; Fax: +1 212 860 3316; E-mail: [email protected]
Abstract: This article reviews the elements and process of genetic counseling for breast cancer risk, including contracting, informed consent, and psychosocial assessment and counseling. Case studies and pedigrees are utilized to illustrate current approaches to issues and challenges in the field. For example, the following topics are explored: test result interpretation, including uninformative BRCA1/2 test results; testing strategies and test selection; family concerns; patient follow-up and recontact; risk counseling in double heterozygotes; and reproductive options for mutation carriers. Concerns in specific populations such as newly diagnosed breast cancer patients, young unaffected high-risk women, and males are also reviewed. Alternative forms of and adjuncts to traditional face-to-face genetic counseling are discussed.
Keywords: Genetic counseling, genetic testing, hereditary breast cancer syndromes, cancer risk, breast cancer, decision aids, test result interpretation, psychosocial assessment, informed consent, BRCA1, BRCA2
DOI: 10.3233/BD-2007-27105
Journal: Breast Disease, vol. 27, no. 1, pp. 69-96, 2007
