Genetic testing in primary care

Abstract

Rapid advances in genetic research are leading to an expanding array of genetic tests. Primary care providers will increasingly be challenged to identify patients whose symptoms, physical findings, or family history indicate the need for genetic testing, and to determine how to use genetic information most effectively to improve disease prevention. In addressing these challenges, practitioners will need to consider the range of different uses of genetic testing, including diagnosis in symptomatic and asymptomatic people, risk assessment, reproductive decision-making, and population screening. They will need a set of core skills and knowledge to evaluate family history and to recognize clinical findings that indicate genetic risk. At the same time, the primary care perspective will contribute to the evaluation of appropriate uses of genetic testing. A partnership between medical genetics and primary care will help to ensure the development of effective policies, educational tools, and practice guidelines for the coming era of genomic health care.