Genetic testing for inherited breast and ovarian cancer syndromes: Important concepts for the primary care physician

Abstract

The remarkable advances in the area of genetic testing are transforming the way clinical medicine is practised. In the case of the inherited breast-ovarian cancer syndrome the ability to engage in genetic testing of BRCA genes has raised novel issues over caring for patients who are at increased risk for these malignancies. The primary care physician is likely to play a pivotal role in identifying such persons. As only 10-15% of all breast cancers are caused by directly heritable mutations, cultivating the ability to identify those who may be at increased risk is an important skill for the primary care physician. Once it is established that an individual is at risk of BRCA mutation, the physician must understand the potential benefits and drawbacks of the various genetic BRCA tests. Taking such factors into account leads to the development of an appropriate plan for evaluation. Careful attention must also be paid to social and psychological issues that may affect patients and their families.