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CLINICAL GENETICS

Time to make rare disease diagnosis accessible to all

Nature Medicine volume 28, pages 241–242 (2022)Cite this article

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Studies have demonstrated the value of genomic analysis for the diagnosis of rare diseases, but accessibility is still in its infancy; global data sharing is needed to further advance our knowledge of all causes of rare disease.

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Fig. 1: The cycle of rare disease testing, discovery and treatment.

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Authors and Affiliations

  1. Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA

    Heidi L. Rehm

  2. Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA

    Heidi L. Rehm

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  1. Heidi L. Rehm
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Correspondence to Heidi L. Rehm.

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The author declares no competing interests.

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Rehm, H.L. Time to make rare disease diagnosis accessible to all. Nat Med 28, 241–242 (2022). https://doi.org/10.1038/s41591-021-01657-3

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