Differences in BRCA counseling and testing practices based on ordering provider type

Genet Med. 2015 Jan;17(1):51-7. doi: 10.1038/gim.2014.75. Epub 2014 Jun 12.


Purpose: The purpose of this study was to assess potential differences in genetic counseling services delivered by board-certified genetic health-care providers versus non-genetic health-care providers. We evaluated (i) patient recall and content of pretest genetic counseling for hereditary breast and ovarian cancer and (ii) whether full BRCA1 and 2 gene sequencing was performed when less expensive single-site or Ashkenazi Jewish founder mutation testing may have been sufficient.

Methods: Participants completed a questionnaire and provided BRCA test reports that included testing provider and type of test. Chi-square tests and logistic regression were used for analysis.

Results: Of 473 participants, >90% were white, female, and BRCA mutation carriers. Of the 276 (58%) with genetic health-care provider involvement, 97% recalled a pretest discussion as compared with 59% of those without genetic health-care provider involvement (P < 0.001). Among the subgroup who recalled a pretest discussion (n = 385), those with genetic health-care provider involvement indicated higher adherence to eight recognized genetic counseling elements, four of which were statistically significant. Furthermore, involvement of a genetic health-care provider halved the likelihood that comprehensive BRCA testing was ordered among the 266 for whom single-site or multisite-3 testing may have been sufficient (P = 0.02).

Conclusion: Our results suggest that genetic health-care provider involvement is associated with adherence to nationally recommended genetic counseling practices and could potentially reduce costs of BRCA genetic testing.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cross-Sectional Studies
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling*
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Health Personnel / standards*
  • Humans
  • Male
  • Middle Aged
  • Public Health Surveillance
  • Registries
  • Risk Assessment
  • Risk Factors
  • Surveys and Questionnaires