Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.

ABSTRACT:

Background

The identification of actionable secondary findings (SFs) through clinical exome sequencing has become increasingly relevant with the integration of genomics into routine healthcare. The frequency and spectrum of these findings vary across populations.

Methods

We analyzed exome sequencing data from 350 unrelated Maltese individuals, comprising 320 pseudonymised controls and 30 participants from the pilot sequencing phase of the national biobank DwarnaBio, to assess the prevalence of pathogenic or likely pathogenic (P/LP) variants in the ACMG SF v3.2 gene list. All samples underwent uniform sequencing, rigorous quality control, and variant interpretation according to ACMG/AMP guidelines.

Results

Actionable P/LP variants were identified in 12 individuals (3.4

SUBMITTER: Grech L 

PROVIDER: S-EPMC12447238 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature