Genetic Counseling in Breast Cancer


Peshkin, B.N.


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This publication is a testament to how far the field of genetic counseling for breast cancer susceptibility has advanced since the mid-1990s, following the cloning of two major breast (and ovarian) cancer susceptibility genes, BRCA1 and BRCA2. For women who test positive, several recent studies confirm what we suspected early on – namely that prophylactic mastectomy and oophorectomy confer significant protection against the development of breast and ovarian cancer. Ongoing research to develop better screening measures for ovarian cancer is especially critical now given the substantial number of women who are identified by BRCA1/2 positive status as being at high risk for this disease. In addition, we are learning more about other genetic contributions to familial breast cancer risk – including low penetrance gene mutations, SNPs (single nucleotide polymorphisms) and mutations in modifier genes. In this continuum of learning and awareness, it is the shared efforts of policy-makers, researchers, healthcare providers, theologians, ethicists, consumers, and others who will navigate us through and beyond the genetics nexus. As a community, we have a window of opportunity to embrace lessons learned from cancer genetic counseling and extrapolate them to other pursuits of genetic knowledge.