Genetic testing underutilized in breast, ovarian cancers

  • Kurian AW & al.
  • J Clin Oncol
  • 9 Apr 2019

  • curated by Miriam Davis, PhD
  • Univadis Clinical Summaries
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Takeaway

  • 8% of patients with breast cancer and 15% of patients with ovarian cancer have actionable genetic variants, according to a Surveillance Epidemiology and End Results (SEER) analysis linked to genetic testing results.
  • Only about one-quarter of those with breast cancer and one-third with ovarian cancer undergo genetic testing.

Why this matters

  • Testing rates are well below levels associated with current clinical guidelines.

Study design

  • Population-based cohort of 77,085 patients with breast cancer and 6001 with ovarian cancer in California and Georgia (2013-2014) and reported to the SEER database.
  • Data were linked to genetic test results from 4 laboratories that performed nearly all genetic testing.
  • Funding: NIH.

Key results

  • 24.1% of breast cancers and 30.9% with ovarian cancer had genetic test results.
  • Testing for ovarian cancer was lower in blacks (21.6% vs 33.8% whites) and uninsured patients (20.8% vs 35.3% insured).
  • Most prevalent pathogenic variants:
    • Breast cancer: BRCA1 (3.2%), BRCA2 (3.1%), CHEK2 (1.6%), PALB2 (0.96%), ATM (0.73%), and NBN (0.35%).
    • Ovarian cancer: BRCA1 (8.7%), BRCA2 (5.8%), CHEK2 (1.4%), BRIP1 (0.92%), MSH2 (0.79%), and ATM (0.64%).
  • Racial/ethnic differences were observed for BRCA1 (ovarian cancer: whites, 7.2% vs 16.1% in Hispanics) and CHEK2 (breast cancer: whites, 2.3% vs 0.15% blacks).

Limitations

  • Potential testing bias.

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