Measuring disease likelihood in genomic ascertainment.

Method to measure likelihood of a valid clinico-molecular diagnosis from BRCA1/BRCA2 secondary findings

A method to measure the likelihood that a BRCA1/2 secondary finding represents a genuine clinico-molecular diagnosis is developed and applied to 59 families. Estimated disease likelihood ranged from 26.2% to 100%. Over half (51%) of families met criteria for formal diagnostic testing, indicating that secondary findings testing is frequently applied to cases that warrant diagnostic testing — and that more than half of families had not received appropriate diagnostic access. These results highlight critical gaps in BRCA1/2 screening policy.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

This study exposes a fundamental problem: the line between secondary and diagnostic findings is blurred in real genomic practice. That 51% of families with a BRCA1/2 secondary finding met diagnostic testing criteria shows that current processes under-utilize diagnostic testing and over-apply secondary findings protocols for at-risk families. These data have direct implications for population genomics screening policies.

Clinical impact : 3/3 · Evidence strength : 2/3 · Novelty : 2/2 · Sample size : 1/1 · Journal quality : 1/1 → Total : 9/10