Nursing's Role in Advancing Care for Rare Genetic Diseases.
Andrew A Dwyer, Suja Somanadhan
PMID 40345765WHAT IT FOUND
Nurses can coordinate rare disease care, teach patients about testing and treatment, link families to peer support, and advocate for access.
The review describes these roles and examples; it does not test whether they improve outcomes.
Key findings
01The review reports that 95% of rare diseases have no approved treatment or cure.
02The review describes nursing roles in rare disease care as care coordination, therapeutic education, psychosocial support, patient empowerment, and advocacy.
03The review presents two nurse-led exemplars, one advanced practice nurse and one registered nurse.
STILL TO COME
How it was doneWhat they foundWhat it means for RNs
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What it does not show
This is a narrative review, not a study with original participants, methods, or outcome data. The exemplars are descriptions of work already done, not controlled comparisons, so they cannot show that the described actions caused better care or outcomes. Much of the content is general background on rare diseases and nursing roles rather than specific guidance for physical, occupational, or speech-language therapy.
Declared interests
The publication types list NIH extramural research support; no author disclosure statement is given.
The easy way to misread this
Do not read the described nurse-led roles as proof that they improve rare disease outcomes. This is a narrative review with examples, not a controlled study.