Genomics Programs Plan Broader Screening Across Healthcare

Genomic screening is expanding beyond traditional testing, with programs exploring its use in primary care and newborn screening. Yale researchers are launching a five-year, NIH-funded effort to follow 5,000 patients and assess screening for inherited conditions where early intervention can improve outcomes. In Oregon, a separate study will recruit volunteer mothers and babies to test whether DNA sequencing can identify hundreds of treatable conditions beyond those covered by current newborn screening. A nationwide survey of French perinatal health professionals found broad support for adding actionable childhood diseases when early treatment offers clear benefit, while emphasizing equitable access and careful assessment of potential harms. The findings also highlight a challenge for genomic tests that screen for many conditions at once: established screening criteria may need to be applied separately to each potential finding.