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Rare Disease Diagnosis Needs More Than Screening
Key Takeaways
- A Nature Medicine comment says timely rare-disease detection is crucial.
- The authors argue screening alone cannot solve the diagnostic odyssey.
- They highlight differences in genetic basis, treatability, and penetrance across conditions.
- The article calls for multiple diagnostic and screening pathways, backed by clinical interpretation and follow-up.
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DT Editorial Team··via nature.com
