Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations

Mo Med. 2022 Jul-Aug;119(4):390-396.

Abstract

The field of genetics has evolved rapidly over the last few decades, from testing methods to genetic diagnoses, bringing new genetic testing guidelines and considerations for health care providers. Overall geneticists are limited in number and availability, particularly in non-academic settings, and many patients first present to a primary care provider. Here, we aim to review various modalities of genetic testing, their indications, limitations, and other pretest considerations for the primary care provider. In addition, we comment on the limitations of direct-to-consumer (DTC) genetic testing, which has seen a rise in popularity among the general population.

MeSH terms

  • Direct-To-Consumer Screening and Testing*
  • Genetic Testing
  • Humans
  • Outpatients
  • Physicians*
  • Primary Health Care