Reducing the diagnostic odyssey in rare disease: why screening is not the only answer

The timely detection of rare diseases is crucial, and using a range of approaches will be key to reducing the diagnostic odyssey

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Authors and Affiliations

1. Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, UK

   Caroline F. Wright, Amicia Phillips, Emma L. Baple & Leigh Jackson

2. Unique, The Stables, Oxted, Surrey, UK

   Sarah L. Wynn

3. Genetic Alliance UK, London, UK

   Nick Meade

4. South West Genomic Medicine Service, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK

   Emma L. Baple

5. Centre for Human Genetics, University of Oxford, Oxford, UK

   Anneke M. Lucassen

Authors

1. Caroline F. WrightView author publications

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2. Amicia PhillipsView author publications

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3. Sarah L. WynnView author publications

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4. Nick MeadeView author publications

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5. Emma L. BapleView author publications

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6. Anneke M. LucassenView author publications

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7. Leigh JacksonView author publications

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Wright, C.F., Phillips, A., Wynn, S.L. et al. Reducing the diagnostic odyssey in rare disease: why screening is not the only answer.
Nat Med (2026). https://doi.org/10.1038/s41591-026-04542-z

• Published:28 July 2026

• Version of record:28 July 2026

• DOI
  :https://doi.org/10.1038/s41591-026-04542-z