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BRCA1/2 genetic testing in the community setting.

Wendy Y Chen1, Judy E Garber, Suzanne Higham

  • 1Department of Adult Oncology, Dana-Farber Cancer Institute, and Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA. wendy_chen@dfci.harvard.edu

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
|November 15, 2002
PubMed
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Community-based BRCA1/2 genetic testing for hereditary breast and ovarian cancer shows high patient satisfaction. Results indicate a likelihood of pursuing prevention strategies among mutation carriers, highlighting the clinical utility of this service.

Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • BRCA1/2 genetic testing has been available since 1996, primarily studied in academic settings.
  • Limited data exists on BRCA1/2 testing as a clinical service within community healthcare settings.

Purpose of the Study:

  • To evaluate the process and early outcomes of BRCA1/2 genetic testing provided as a clinical service in the community.
  • To assess patient demographics, satisfaction, and uptake of cancer prevention strategies following genetic testing.

Main Methods:

  • A survey was distributed to women in the US who underwent BRCA1/2 genetic testing between August 1998 and July 2000.
  • Exclusion criteria included testing at large academic centers; focus was on community-based testing.
  • Key outcome measures included demographic characteristics, recall of informed consent, satisfaction with the genetic testing process, and consideration of prevention strategies.

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Main Results:

  • The study included 646 respondents, with a majority having a personal or family history of breast/ovarian cancer.
  • Most participants recalled informed consent discussions, and over 75% reported high satisfaction with genetic counseling.
  • Cancer-free individuals with a germline mutation were more inclined to consider cancer prevention strategies post-testing.

Conclusions:

  • Community-based BRCA1/2 genetic testing, despite non-standardized communication, yields high patient satisfaction.
  • The findings support the integration of genetic testing into community healthcare for hereditary cancer risk assessment.
  • Further research will track long-term cancer prevention practices and incidence in this cohort.