Mainstream Germline Genetic Testing with Expanded Eligibility for Early Breast Cancer Patients in a Large Integrated Health System
2024

Genetic Testing for Early Breast Cancer Patients

Sample size: 2294 publication 10 minutes Evidence: high

Author Information

Author(s): Shim Veronica MD, Karlea Audrey MS, LCGC, Brenman Leslie Manace MD, MPhil, Gul Jamila BS, Hoodfar Elizabeth MS, LCGC, Chan Tracy D. RN, Engeman Poline C. NP, Sheldon Vanessa M. RN, Thorne-Hadfield Deirdre M. NP, Odele Patience MD, Vuong Brooke MD, McEvoy Jennifer MD, Chang C. K. MD, Kotak Dinesh MD, Habel Laurel A. PhD

Primary Institution: Kaiser Permanente Northern California

Hypothesis

Can a new genetic testing pathway increase testing rates among early-stage breast cancer patients?

Conclusion

The study found that a new genetic testing pathway significantly increased the percentage of early breast cancer patients undergoing genetic testing.

Supporting Evidence

  • Patients at pilot sites had a higher percentage of genetic testing (61.6%) compared to non-pilot sites (31.7%).
  • The median time from biopsy to test result was shorter at pilot sites (22 days) than at non-pilot sites (33 days).
  • A higher percentage of patients at pilot sites were identified with pathogenic variants (3.6% vs 1.6%).
  • Demographic characteristics were similar across both pilot and non-pilot sites.
  • Patients aged 45 years or younger had the highest testing rates at pilot sites (95.7%).
  • 46.3% of tested patients at pilot sites had a variant of uncertain significance (VUS).
  • Mainstream genetic testing was facilitated by breast care coordinators (BCCs).
  • The study included a diverse population reflective of California's demographics.

Takeaway

This study shows that making genetic testing easier for breast cancer patients helps more people get tested, which is important for their health.

Methodology

The study compared genetic testing uptake and results between patients at pilot sites with expanded eligibility and those at non-pilot sites.

Limitations

The testing pathway may not be generalizable to non-integrated health care settings.

Participant Demographics

Approximately 50% non-Hispanic white, with a median age of 64 years at diagnosis.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1245/s10434-024-16223-7

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