A study published in JAMA Network Open suggested that approximately 1% of the middle-aged adult population in the UK Biobank harbored a pathogenic variant associated with familial hypercholesterolemia, hereditary breast or ovarian cancer syndrome, or Lynch syndrome.
According to researchers, these individuals were at increased risk of disease, and carrier status was not reliably detected based on family history.
“Population genomic screening efforts may enable identification of these high-risk individuals before disease onset so that established risk mitigation strategies to overcome inherited disease susceptibility can be implemented,” the authors wrote.
In this cohort study, researchers used gene-sequencing data from 49,738 participants in the UK Biobank who were recruited from 22 sites across the UK. Family history of disease in parents and siblings was reported by the…
