Do physicians know when to refer patients for genetic testing?

R. John Presutti, George G.A. Pujalte, Amelita Woodruff, Anjali Agarwal, Chase N. Robinson, Robyn L. Reese, Haytham Helmi, Jeff T. Wight

Research output: Contribution to journalArticlepeer-review


Primary care physicians (PCPs) are commonly approached with concerns involving patient genetics. This is a challenge because most PCPs lack expertise in genetic testing compared to their genetic counselor counterparts. Currently, the recommended best practice is to refer patients for genetic testing based on cancer-related family history questionnaires with a genetic counseling referral to discuss their results and any implications. However, the extent to which PCPs are using these questionnaires for this purpose remains poorly understood. In this cross-sectional study, PCPs were presented with the American Cancer Society's seven recommended family history questions to determine the percentage who consider each to be an indicator for referral to a genetics specialist. Questionnaires were completed by 88 of 260 attending PCPs at a national primary care review conference. The main outcome was the percentage of PCPs who identified each question as a trigger for genetic testing. Secondary outcomes included correlations with years of practice, genetics training, and methods used to obtain patient family history. Only two of the seven questions were considered triggers by most PCPs (range, 76–83%). The remaining five had lower percentages (range, 22–55%). Years of practice did not influence the number of triggers identified (Spearman correlation coefficient test: r = 0.05, p = 0.68). Few PCPs (3.4%) felt they had good to excellent genetics training during residency. Only 44.3% had genetics specialists available for referral. Overall, low percentages of PCPs consider the American Cancer Society questions to be triggers for genetic testing referrals. Furthermore, many do not have a genetics specialist or counselor available for referral. Addressing these concerns may help PCPs understand the basics of genetic testing and use standardized questionnaires to make appropriate referrals to genetic specialists, thereby reducing inappropriate referrals and improving appointment access to this precious resource for those who truly need it.

Original languageEnglish (US)
JournalJournal of Genetic Counseling
StateAccepted/In press - 2023
Externally publishedYes


  • attitudes
  • cancer
  • genetic counseling
  • genetic testing
  • genomics
  • physicians
  • referral practices

ASJC Scopus subject areas

  • Genetics(clinical)


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