Time to make rare disease diagnosis accessible to all

Heidi L Rehm

doi:10.1038/s41591-021-01657-3

Time to make rare disease diagnosis accessible to all

Nat Med. 2022 Feb;28(2):241-242. doi: 10.1038/s41591-021-01657-3.

Author

Heidi L Rehm^{1

2}

Affiliations

¹ Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. hrehm@mgh.harvard.edu.
² Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. hrehm@mgh.harvard.edu.

Abstract

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

Publication types

Research Support, N.I.H., Extramural
Comment

MeSH terms

Delivery of Health Care*
Humans
Rare Diseases* / diagnosis
Rare Diseases* / genetics

Grants and funding

U01 HG011755/HG/NHGRI NIH HHS/United States