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Area of Science:

  • Medical Genetics
  • Healthcare Services Research

Background:

  • Genetic counseling is crucial for hereditary cancer risk assessment.
  • Variations in genetic counseling quality exist based on provider expertise.
  • Optimizing genetic testing for hereditary breast and ovarian cancer (HBOC) is essential.

Purpose of the Study:

  • To compare genetic counseling services provided by genetic health-care providers versus non-genetic health-care providers.
  • To evaluate patient recall and content of pretest genetic counseling for HBOC.
  • To determine if full BRCA1 and BRCA2 gene sequencing is overutilized when less costly tests suffice.

Main Methods:

  • Participants (N=473) completed questionnaires and provided BRCA test reports.
  • Data included testing provider and type of genetic test utilized.
  • Chi-square tests and logistic regression analyzed differences in counseling and testing practices.

Main Results:

  • Genetic health-care provider involvement was associated with significantly higher patient recall of pretest genetic counseling (97% vs. 59%).
  • Patients with genetic health-care provider involvement showed greater adherence to recommended genetic counseling elements.
  • Involvement of a genetic health-care provider reduced the likelihood of comprehensive BRCA testing when single-site or founder mutation testing was adequate (P=0.02).

Conclusions:

  • Genetic health-care provider involvement correlates with adherence to recommended genetic counseling practices.
  • Utilizing specialized genetic health-care providers may lead to more appropriate and cost-effective BRCA genetic testing.