Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States

Nature Geneticsvolume54,pages219–222 (2022)Cite this article

Subjects

To build a more efficient, equitable and sustainable approach to rare disease research in the United States, we must prioritize integrated research infrastructure and approaches that focus on understanding connections across rare diseases.

The cumulative burden of rare diseases is immense, with the over 7,000 identified rare diseases together affecting an estimated 25–30 million Americans1. Most have serious impacts on individuals’ physical and/or cognitive functioning, and many are life-threatening or fatal. Healthcare spending in rare diseases reached nearly US$966 billion in 2019, well exceeding the amount spent for some of the most common chronic diseases1. Despite this tremendous physical, psychological and economic burden, over 90% of rare diseases lack an approved therapy1.

This is a preview of subscription content,access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Rent or buy this article

Get just this article for as long as you need it

$39.95

Learn more

Prices may be subject to local taxes which are calculated during checkout

References

  1. US Government Accountability Office.https://www.gao.gov/products/gao-22-104235(2021).

  2. Tambuyzer, E. et al.Nat. Rev. Drug. Discov.19, 93–111 (2020).

    ArticleCASGoogle Scholar

  3. Hirsch, M. C., Ronicke, S., Krusche, M. & Wagner, A. D.Ann. Rheum. Dis.79, 740–743 (2020).

    ArticleGoogle Scholar

  4. Groft, S. C. & Gopal-Srivastava, R.Clin. Trials J.3, 1015–1021 (2013).

    CASGoogle Scholar

  5. Denton, N. et al.Orphanet J. Rare Dis.16, 161 (2021).

    ArticleGoogle Scholar

  6. Phillips, K. A. et al.Value Health21, 1033–1042 (2018).

    ArticleGoogle Scholar

  7. 斯塔克,z . et al。Genet. Med.21, 173–180 (2019).

    ArticleCASGoogle Scholar

  8. Dimmock, D. P. et al.Am. J. Hum. Genet.107, 942–952 (2020).

    ArticleCASGoogle Scholar

  9. Bowling, K. M. et al.Genome Med.9, 43 (2017).

    ArticleGoogle Scholar

  10. Splinter, K. et al.N. Engl. J. Med.379, 2131–2139 (2018).

    ArticleCASGoogle Scholar

  11. De Benedetti, F. et al.N. Engl. J. Med.378, 1908–1919 (2018).

    ArticleGoogle Scholar

  12. Chung, D. C. et al.Clin. Exp. Ophthalmol.46, 247–259 (2018).

    ArticleGoogle Scholar

  13. 小波拉巴斯德,M. Taruscio, D. & Groft, S.C.Rare Diseases Epidemiology: Update and Overview(Springer International Publishing, 2017).

  14. Halley, M. C.Am. J. Bioethics21, 1–3 (2021).

    ArticleGoogle Scholar

  15. Largent, E. A. & Pearson, S. D.Hastings Cent. Rep.42, 27–34 (2012).

    ArticleGoogle Scholar

  16. Farooq, F., Mogayzel, P. J., Lanzkron, S., Haywood, C. & Strouse, J. J.JAMA Netw. Open3, e201737 (2020).

    ArticleGoogle Scholar

  17. Jomoui, W. et al.J. Hum. Genet.62, 747–754 (2017).

    ArticleCASGoogle Scholar

  18. Rho, J. et al.Am. J. Respir. Crit. Care Med.198, 1055–1063 (2018).

    ArticleGoogle Scholar

  19. Landry, L. G. & Rehm, H. L.JAMA Cardiol.3, 341–345 (2018).

    ArticleGoogle Scholar

  20. Green, E. D. et al.Nature586, 683–692 (2020).

    ArticleCASGoogle Scholar

  21. Harari, S.Eur. Respir.25, 101–103 (2016).

    ArticleGoogle Scholar

  22. Tabor, H. K. & Goldenberg, A.AMA J. Ethics20e834 - 840(2018)。

    ArticleGoogle Scholar

  23. Aymé, S., Bellet, B. & Rath, A.Orphanet J. Rare Dis.10, 1–14 (2015).

    ArticleGoogle Scholar

  24. Harnish, J. M. et al. Preprint at BioRxivhttps://doi.org/10.1101/2021.09.30.462504v1(2021).

  25. Wang, J. et al.Am. J. Hum. Genet.100, 843–853 (2017).

    ArticleCASGoogle Scholar

Download references

Acknowledgements

Funding for this research was provided by the US National Human Genome Research Institute, grant numbers K01HG011341 (M.C.H.) and K99HG011491 (H.S.S.); the National Institutes of Health Common Fund, Office of the Director, grant number U01HG010218 (E.A.A.); and the National Center for Advancing Translational Science, grant number UL1TR003142 (H.K.T.).

Author information

Author notes

  1. These authors contributed equally: Aaron J. Goldenberg, Holly K. Tabor.

Authors and Affiliations

  1. Stanford Center for Biomedical Ethics, Stanford University School of Medicine, Stanford, CA, USA

    Meghan C. Halley & Holly K. Tabor

  2. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, USA

    Hadley Stevens Smith

  3. Department of Genetics, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA

    Euan A. Ashley

  4. Department of Bioethics, Case Western Reserve University School of Medicine, Cleveland, OH, USA

    Aaron J. Goldenberg

  5. Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA

    Holly K. Tabor

Authors
  1. Meghan C. Halley
    View author publications

    You can also search for this author inPubMedGoogle Scholar

  2. Hadley Stevens Smith
    View author publications

    You can also search for this author inPubMedGoogle Scholar

  3. Euan A. Ashley
    View author publications

    You can also search for this author inPubMedGoogle Scholar

  4. Aaron J. Goldenberg
    View author publications

    You can also search for this author inPubMedGoogle Scholar

  5. Holly K. Tabor
    View author publications

    You can also search for this author inPubMedGoogle Scholar

Corresponding author

Correspondence toMeghan C. Halley.

Ethics declarations

Competing interests

E.A.A. is a non-executive director at AstraZeneca. The other authors declare no competing interests.

Peer review

同行审查的信息

Nature Geneticsthanks Joseph T. Shieh, Anne O’Donnell-Luria, and Tiina Urv for their contribution to the peer review of this work.

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Halley, M.C., Smith, H.S., Ashley, E.A.et al.A call for an integrated approach to improve efficiency, equity and sustainability in rare disease research in the United States.Nat Genet54, 219–222 (2022). https://doi.org/10.1038/s41588-022-01027-w

Download citation

  • Published:

  • Issue Date:

  • DOI:https://doi.org/10.1038/s41588-022-01027-w

This article is cited by

Search

Advanced search

Quick links

Nature Briefing: Translational Research

Sign up for theNature Briefing: Translational Researchnewsletter — top stories in biotechnology, drug discovery and pharma.

Get what matters in translational research, free to your inbox weekly. Sign up for Nature Briefing: Translational Research
Baidu
map