Newborn whole genome sequencing complements rather than competes with population health

We welcome Sheldon and Wright’s emphasis on social determinants of health rather than screening,1 but universal newborn whole genome sequencing (WGS) should be seen as an evolution of the heel prick programme, rather than a costly detour into genomics for its own sake. Biochemical screening already tests nine conditions; adding WGS widens that net to >200 treatable disorders and creates a secure genomic record for lifelong re-analysis. Early data from the UK Generation Study show that one actionable diagnosis is made for around every 200 babies, including spinal muscular atrophy detected before symptom onset, enabling curative therapy.2The authors warn of screening harms. Wilson-Jungner principles still apply: variant reporting must be limited to well validated, childhood onset conditions, with confirmatory assays and genetic counselling to curb false positives. With these safeguards in place, rapid WGS in a US neonatal intensive care unit cut one child’s diagnosis from weeks to days and…