Public perspectives about pharmacogenetic testing and managing ancillary findings

Genet Test Mol Biomarkers. 2012 Mar;16(3):193-7. doi: 10.1089/gtmb.2011.0118. Epub 2011 Nov 2.


Aims: Pharmacogenetic (PGx) tests are intended to improve therapeutic outcomes through predicting a patient's likelihood to respond to or experience an adverse effect from a specific treatment. In addition, PGx testing may also generate ancillary, or incidental, disease information unrelated to the purpose for which the test was ordered. To assess public attitudes toward PGx testing, ancillary disease risk information and related clinical issues, we conducted a series of focus groups.

Results: Forty-five individuals recruited from Durham, NC, participated in four focus groups. Overall, participants were enthusiastic about PGx testing, though expressed concerns about privacy, confidentiality, and psychological harms associated with ancillary information. Focus group participants believed that physicians had a responsibility to disclose ancillary risk information, but were concerned about managing and coping with unexpected disease risk information.

Conclusion: We find that participants welcomed the integration of PGx testing into therapeutic decision-making. Public concerns about PGx testing and ancillary information specifically centered on personal implications of learning such additional information, suggesting that patient-provider discussion of the benefits and risks of testing will be necessary until public familiarity with these tests increases.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Attitude to Health*
  • Disclosure
  • Female
  • Focus Groups
  • Genetic Counseling
  • Genetic Testing / methods*
  • Humans
  • Incidental Findings*
  • Male
  • Middle Aged
  • Pharmacogenetics*
  • Public Opinion*
  • Young Adult