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Related Experiment Video

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

Veronica Shim1, Audrey Karlea2, Leslie Manace Brenman2

  • 1Department of Surgery, Kaiser Permanente Oakland Medical Center, Oakland, CA, USA. veronica.shim@kp.org.

Annals of Surgical Oncology
|September 18, 2024
PubMed
Summary

A new mainstream genetic testing pathway for hereditary cancer in early-stage breast cancer patients significantly increased testing uptake and identified more pathogenic variants. This approach expands germline genetic testing eligibility to age 65, proving feasible for large healthcare systems.

Keywords:
Breast cancerBreast cancer-related geneMainstream germline genetic testingMultigene panelPathogenic/likely pathogenic variant

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Area of Science:

  • Oncology
  • Genetics
  • Healthcare Management

Background:

  • Hereditary cancer genetic testing is crucial for early-stage breast cancer patients.
  • Current guidelines often have age restrictions for genetic testing eligibility.
  • Evaluating new pathways for broader genetic testing access is essential.

Purpose of the Study:

  • To evaluate a novel mainstream genetic testing pathway for hereditary cancer.
  • To assess the impact of expanded eligibility for early-stage breast cancer patients.
  • To compare testing uptake and results between a mainstream and a traditional genetics referral pathway.

Main Methods:

  • A comparative study at 4 pilot and 10 non-pilot Kaiser Permanente Northern California sites (December 2020-June 2021).
  • Pilot sites used breast care coordinators (BCCs) to offer multigene panel testing (62 genes) with expanded eligibility (≤65 years).
  • Non-pilot sites used standard genetics referral with eligibility ≤45 years.

Main Results:

  • Overall testing uptake was higher at pilot sites (61.6%) vs. non-pilot sites (31.7%).
  • Pathogenic/likely pathogenic variants (PV/LPV) were identified in a higher percentage of patients at pilot sites (3.6%) vs. non-pilot sites (1.6%).
  • Median time from biopsy to test result decreased from 33 to 22 days at pilot sites.

Conclusions:

  • Mainstream genetic testing facilitated by BCCs is feasible for large healthcare systems.
  • This pathway effectively expands germline genetic testing to early breast cancer patients up to age 65.
  • The approach increases testing uptake and identifies more relevant genetic variants.