Health-care referrals from direct-to-consumer genetic testing

Genet Test Mol Biomarkers. 2010 Dec;14(6):817-9. doi: 10.1089/gtmb.2010.0051. Epub 2010 Oct 28.


Background: direct-to-consumer genetic testing (DTC-GT) provides personalized genetic risk information directly to consumers. Little is known about how and why consumers then communicate the results of this testing to health-care professionals.

Aim: to query specialists in clinical genetics about their experience with individuals who consulted them after DTC-GT.

Methods: invitations to participate in a questionnaire were sent to three different groups of genetic professionals, totaling 4047 invitations, asking questions about individuals who consulted them after DTC-GT. For each case reported, respondents were asked to describe how the case was referred to them, the patient's rationale for DTC-GT, and the type of DTC-GT performed. Respondents were also queried about the consequences of the consultations in terms of additional testing ordered. The costs associated with each consultation were estimated. A clinical case series was compiled based upon clinician responses.

Results: the invitation resulted in 133 responses describing 22 cases of clinical interactions following DTC-GT. Most consultations (59.1%) were self-referred to genetics professionals, but 31.8% were physician referred. Among respondents, 52.3% deemed the DTC-GT to be "clinically useful." BRCA1/2 testing was considered clinically useful in 85.7% of cases; 35.7% of other tests were considered clinically useful. Subsequent referrals from genetics professionals to specialists and/or additional diagnostic testing were common, generating individual downstream costs estimated to range from $40 to $20,600.

Conclusions: this clinical case series suggests that approximately half of clinical geneticists who saw patients after DTC-GT judged that testing was clinically useful, especially the BRCA1/2 testing. Further studies are needed in larger and more diverse populations to better understand the interactions between DTC-GT and the health-care system.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Access to Information*
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Testing / economics*
  • Humans
  • Pilot Projects
  • Referral and Consultation / economics*
  • Surveys and Questionnaires