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Review
. 2025 Jun;60(2):349-368.
doi: 10.1016/j.cnur.2024.12.005. Epub 2025 Mar 3.

Nursing's Role in Advancing Care for Rare Genetic Diseases

Andrew A Dwyer  1 , Suja Somanadhan  2
Affiliations
Review

Nursing's Role in Advancing Care for Rare Genetic Diseases

Andrew A Dwyer et al. Nurs Clin North Am. 2025 Jun.

Abstract

Rare diseases (RDs) are predominantly genetic in etiology and characterized by low frequency and high medical complexity. Although individually infrequent, the cumulative public health impact of ∼7000 RDs is significant, and patients and families experience significant psychosocial burden. Health disparities stem from delays in diagnosis (diagnostic odyssey), difficulty accessing care, and lack of effective treatments. This article provides an overview of rare genetic diseases and highlights exemplar cases demonstrating nursing's role in advancing comprehensive, person-centered care for rare genetic diseases. Resources and recommendations are provided for nurses to enhance quality care for individuals and families living with RDs.

Keywords: Genetic testing; Genomics; Health disparities; Nursing care; Patient empowerment; Rare diseases.

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Conflict of interest statement

Disclosure The authors have no relevant disclosures or perceived conflicts of interest. Dr Dwyer serves on Massachusetts Rare Disease Advisory Council (Boston MA) and receives support from the National Institutes of Health Eunice Kennedy ShriverNational Institute of Child Health and Human Development (1P50HD104224–01) and the Josiah Macy Jr. Foundation. Views expressed in this article do not necessarily reflect those of the Massachusetts Rare Disease Advisory Council. Dr Somanadhan serves as the Co-Lead of the All-Ireland Rare Diseases Interdisciplinary Research Network (RAiN), the Co-Principal Investigator and co-lead of the Rare Disease Research Catalyst Consortium (RDCat) funded by the Health Research Board Ireland, and a co-applicant of Horizon Europe's rare disease consortium, ERDERA—EUROPEAN RARE DISEASES RESEARCH ALLIANCE.

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