Whole-genome sequencing

What it is

Whole-genome sequencing reads almost the entire genome, both the protein-coding genes and the non-coding DNA between them, roughly three billion base pairs. Longevity clinics offer it to healthy adults to estimate disease risk and tailor prevention. The technology is on firm ground for its original job, diagnosing rare disease, where the 100,000 Genomes pilot reported a diagnosis in about a quarter of participants (NEJM, 2021), and the ACMG maintains a list of genes worth reporting as secondary findings, currently 84 in version SF v3.3 (2025). Screening ostensibly healthy people is a weaker claim than diagnosis (ACMG points-to-consider, 2021). Polygenic risk scores compound the gap: built mostly from European-ancestry cohorts, they predict poorly in other ancestries (Martin et al., Nature Genetics, 2019), a limitation clinic marketing rarely mentions.