Cancer genetics in primary care. When is genetic screening an option and when is it the standard of care?

In some families, predisposition to cancer is caused by a germline mutation in a single gene, which produces an autosomal dominant pattern of cancer transmission. Several hereditary cancer syndromes have been identified and for many of them, genetic testing is clinically available. Determining which patients are at risk for hereditary cancer begins by taking a complete family history. In particular, a three-generation family history and pedigree can provide valuable information for both patients and primary care physicians. When the history supports the possibility of hereditary cancer, a qualified genetic professional can assist with specific advice about testing and treatment options for the entire family. If pedigree analysis substantiates a heritable form of cancer, patients should be thoroughly informed about potential benefits, limitations, and risks of genetic screening and offered testing as appropriate. The ultimate goal is to reduce cancer morbidity and mortality through interventions that decrease cancer risk or increase early detection.