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

The remarkable advances in the area of genetic testing are transforming the way clinical medicine is practised. In the case of the inherited breast-ov arian cancer syndrome the ability to engage in genetic testing of BRCA gene s has raised novel issues over caring for patients who are at increased ris k for these malignancies. The primary care physician is likely to play a pi votal role in identifying such persons. As only 10-15% of all breast cancer s are caused by directly heritable mutations, cultivating the ability to id entify those who may be at increased risk is an important skill for the pri mary care physician. Once it is established that an individual is at risk o f BRCA mutation, the physician must understand the potential benefits and d rawbacks of the various genetic BRCA tests. Taking such factors into accoun t leads to the development of an appropriate plan for evaluation. Careful a ttention must also be paid to social and psychological issues that may affe ct patients and their families.