Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2022 Feb;28(2):241-242.
doi: 10.1038/s41591-021-01657-3.

Time to make rare disease diagnosis accessible to all

Heidi L Rehm  1   2
Affiliations
Comment

Time to make rare disease diagnosis accessible to all

Heidi L Rehm. Nat Med. 2022 Feb.

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.

PubMed Disclaimer

Conflict of interest statement

Competing interests

The author declares no competing interests.

Figures

Figure.
Figure.. The cycle of rare disease testing, discovery and treatment.
Progress in the diagnosis and treatment of rare disease depends on a tight relationship between clinical testing, research and data sharing.
See this image and copyright information in PMC

Comment on

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
    100,000 Genomes Project Pilot Investigators; Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G, Tucci A, Vandrovcova J, Chan G, Williams HJ, Ratnaike T, Wei W, Stirrups K, Ibanez K, Moutsianas L, Wielscher M, Need A, Barnes MR, Vestito L, Buchanan J, Wordsworth S, Ashford S, Rehmström K, Li E, Fuller G, Twiss P, Spasic-Boskovic O, Halsall S, Floto RA, Poole K, Wagner A, Mehta SG, Gurnell M, Burrows N, James R, Penkett C, Dewhurst E, Gräf S, Mapeta R, Kasanicki M, Haworth A, Savage H, Babcock M, Reese MG, Bale M, Baple E, Boustred C, Brittain H, de Burca A, Bleda M, Devereau A, Halai D, Haraldsdottir E, Hyder Z, Kasperaviciute D, Patch C, Polychronopoulos D, Matchan A, Sultana R, Ryten M, Tavares ALT, Tregidgo C, Turnbull C, Welland M, Wood S, Snow C, Williams E, Leigh S, Foulger RE, Daugherty LC, Niblock O, Leong IUS, Wright CF, Davies J, Crichton C, Welch J, Woods K, Abulhoul L, Aurora P, Bockenhauer D, Broomfield A, Cleary MA, Lam T, Dattani M, Footitt E, Ganesan V, Grunewald S, Compeyrot-Lacassagne S, Muntoni F, Pilkington C, Quinlivan R, Thapar N, Wallis C, Wedderburn LR, Worth A, Bueser T, Compton C, Deshpande C, Fassihi H, Haque E, Izat… See abstract for full author list ➔ 100,000 Genomes Project Pilot Investigators, et al. N Engl J Med. 2021 Nov 11;385(20):1868-1880. doi: 10.1056/NEJMoa2035790. N Engl J Med. 2021. PMID: 34758253 Free PMC article.

References

    1. 100,000 Genomes Project Pilot Investigators, Smedley et al. 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. N Engl J Med. 2021. Nov 11;385(20):1868–1880. doi: 10.1056/NEJMoa2035790. - DOI - PMC - PubMed
    1. Bertoli-Avella AM, et al. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet. 2021. Jan;29(1):141–153. doi: 10.1038/s41431-020-00713-9. - DOI - PMC - PubMed
    1. Costain G, et al. Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical Complexity. JAMA Netw Open. 2020. Sep 1;3(9):e2018109. doi: 10.1001/jamanetworkopen.2020.18109. - DOI - PMC - PubMed
    1. Stranneheim H, et al. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 2021. Mar 17;13(1):40. doi: 10.1186/s13073-021-00855-5. - DOI - PMC - PubMed
    1. Landrum MJ, Kattman BL. ClinVar at five years: Delivering on the promise. Hum Mutat. 2018. Nov;39(11):1623–1630. doi: 10.1002/humu.23641. - DOI - PMC - PubMed

Publication types