✉news ScienceBiology first seen 7 d ago, last 7 d ago, peak #37
New genetic test re-analyses results to shorten rare-disease diagnosis odysseys
Original: Some families spend years without a rare-disease diagnosis. A new genetic test revisits results over time.
Some families wait years, sometimes decades, for a diagnosis of a rare disease, moving from specialist to specialist without answers. A new genetic testing approach re-examines earlier results over time as scientific knowledge grows, meaning data already collected from a patient can yield a diagnosis when new gene-disease links are discovered, potentially cutting what doctors call the diagnostic odyssey.
Why now: Coverage of a genetic test that can be rechecked over time offers hope to families stuck in years-long diagnostic limbo for rare diseases.
rare disease patientsgenetic testing
Evidence
- Some families spend years without a rare-disease diagnosis. A new genetic test revisits results over time. · Stock Titan
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