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Measuring disease likelihood in genomic ascertainment.

Julie C Sapp1, Katie L Lewis1, Emily W Modlin1

  • 1Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

American Journal of Human Genetics
|April 8, 2026
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Summary

Secondary findings in genetic testing have variable diagnostic yields. Over half of families with BRCA1/BRCA2 findings met criteria for diagnostic testing, suggesting underuse and inappropriate application of secondary findings analysis.

Keywords:
genomic ascertainmentgenomic screeningsecondary findings

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Area of Science:

  • Genomics
  • Medical Genetics
  • Clinical Diagnostics

Background:

  • Secondary findings from genetic testing require evaluation for clinical utility and policy development.
  • The American College of Medical Genetics and Genomics (ACMG) Secondary Findings guidelines are applied across diverse testing scenarios.

Purpose of the Study:

  • To assess the diagnostic yield, predictive power, and utility of secondary findings in a diverse participant cohort.
  • To develop a quantitative method for evaluating the likelihood of a valid diagnosis for secondary findings.

Main Methods:

  • Recruited participants from multiple sources for genetic testing analysis.
  • Conducted genotyping, cascade testing, and phenotyping for 163 probands and their families.
  • Developed and applied a method to estimate the likelihood of a valid clinicomolecular diagnosis for secondary findings, focusing on BRCA1/BRCA2 variants.

Main Results:

  • Diagnostic yield of secondary findings showed high variability among families.
  • For 59 families with BRCA1/BRCA2 secondary findings, the likelihood of a valid diagnosis ranged from 26.2% to 100%.
  • 51% of families met criteria for diagnostic testing, indicating underutilization and potential inappropriate application of secondary findings analysis.

Conclusions:

  • Secondary findings analysis in genetic testing has variable diagnostic utility.
  • Current application of secondary findings testing may be inappropriate, with diagnostic testing for certain conditions being underused.
  • Findings support policy refinement for secondary findings and inform discussions on population genomic screening.