(HealthDay News) — More than three-quarters of biobank participants with pathogenic and likely pathogenic variants (PLPVs) are unaware that they are carrying these variants, according to a study published online Nov. 8 in the American Journal of Human Genetics.

Carrie L. Blout Zawatsky, from Brigham and Women’s Hospital in Boston, and colleagues analyzed genomic results from 36,417 participants in the Mass General Brigham Biobank who underwent research array-based genotyping (GT) or genome sequencing (GS) and offered to confirm and return the results for PLPVs in 59 genes.

The researchers found that GT falsely identified PLPVs in 44.9 percent of samples and failed to identify 72.0 percent of PLPVs in a subset of samples that were also sequenced on variant verification prior to participant recontact. In 1 and 2.5 percent of the cohort, GT and GS detected verified PLPVs, respectively.


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Overall, 37.5 percent of the 256 participants who were alerted that they carried actionable PLPVs actively or passively declined further disclosure. Of those carrying PLPVs, 76.3 percent were unaware that they were carrying the variant, and more than half of those had never been tested even though they met published professional criteria for genetic testing.

The “return of actionable genomic results” protocol cost about $129,000 per year in laboratory testing and research staff support, representing $14 or $3,244 per participant whose DNA was analyzed and per participant in whom a PLPV was confirmed and disclosed, respectively.

“Our study shows that genotyping, while a useful tool in research, may miss important results that more comprehensive sequencing detects,” a coauthor said in a statement.

Several authors disclosed financial ties to the biopharmaceutical and medical technology industries.

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