Professional perspectives about pharmacogenetic testing and managing ancillary findings

Genet Test Mol Biomarkers. 2012 Jan;16(1):21-4. doi: 10.1089/gtmb.2011.0045. Epub 2011 Jul 19.


Aims: Pharmacogenetic (PGx) tests, intended to inform therapeutic decision making through prediction of patient likelihood to respond to or experience an adverse effect from a specific treatment, may also generate ancillary, or incidental, disease information unrelated to the purpose for which the test was ordered. To assess attitudes toward PGx testing, ancillary disease risk information, and related clinical issues, we conducted a series of focus groups among health professionals.

Results: Twenty-one primary care and genetics professionals from Durham, NC, were recruited to participate in three focus groups (two of primary care professionals [PCPs] and one of geneticists). Overall, interest in PGx testing was positive, though enthusiasm was reserved among PCPs due to concerns about clinical utility, insurance coverage, delay of treatment, and ability to communicate and interpret ancillary disease risk information. Although many PCPs felt an obligation to disclose information about ancillary disease risk, geneticists did not believe that it was always necessary, noting the complexities of genetic risk results such as incomplete penetrance.

Conclusion: This pilot study found that health professionals' interest in the use of PGx testing was limited by concerns about the lack of evidence of clinical utility and their ability to interpret and communicate ancillary disease risk information to patients. Additional educational resources, access to genetic specialists, and clear clinical guidelines about the use of PGx testing would greatly facilitate appropriate use of testing.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Attitude of Health Personnel
  • Disclosure
  • Female
  • Focus Groups
  • Genetic Counseling
  • Humans
  • Incidental Findings*
  • Male
  • Middle Aged
  • Pharmacogenetics / ethics
  • Pharmacogenetics / legislation & jurisprudence
  • Pharmacogenetics / organization & administration*
  • Practice Guidelines as Topic
  • Professional Role*
  • Young Adult