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News
Newborn screening (NBS), including whole-genome sequencing, is a valuable tool for catching rare diseases early — but experts say it's far from a complete solution. A new commentary in Nature Medicine highlights that the average rare disease diagnosis still takes 5 years, and screening alone can't close that gap. Complementary diagnostics, better access, and stronger care pathways are all essential pieces of the puzzle.
Newborn screening (NBS) — including the newer genomic NBS (gNBS), which sequences a baby's entire genome — has made real strides in identifying rare diseases earlier. But a commentary just published in Nature Medicine is pushing back on the idea that screening alone can end the "diagnostic odyssey" so many patients endure. With over 7,000 known rare diseases and the average time to diagnosis sitting at 5 years, the gap between screening and a full diagnosis remains wide.
The core problem? Most rare diseases don't yet have approved treatments, and nearly half have unknown molecular causes — meaning a positive screen doesn't always translate into actionable care. Experts also flag the risk of false positives, false negatives, and variants of uncertain significance, all of which can create new anxieties rather than answers. In Italy — one of the more advanced countries in this space, screening for 50 conditions — regional disparities in access to genomic testing remain a persistent challenge.
Key Takeaways:
Why it matters: As genomic screening becomes more widespread, healthcare systems need to ensure the infrastructure — diagnostics, counseling, follow-up care, and equitable access — keeps pace with the technology.
