Evidence map›Paper›PMID 40345765›Full record

ReviewThe Nursing clinics of North America2025

Nursing's Role in Advancing Care for Rare Genetic Diseases.

Andrew A Dwyer, Suja Somanadhan

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in The Nursing clinics of North America, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Andrew A DwyerWilliam F. Connell School of Nursing, Boston College, Chestnut Hill, MA 20476, USA; P50 Massachusetts General Hospital - Harvard Center for Reproductive Medicine, Boston, MA, USA. Electronic address: andrew.dwyer@bc.edu.
Suja SomanadhanUCD School of Nursing Midwifery and Health Systems, Room B.312, UCD Health Sciences Centre, University College Dublin, Belfield, Dublin 4, Ireland.

Funding

The Massachusetts General Hospital Harvard Center for Reproductive MedicineP50HD104224 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2021 to 2025
$7.8M
NICHD NIH HHS P50 HD104224
6 · The paper itself

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.

Indexed as

Nurse's RoleRare DiseasesFemaleHumansPatient-Centered CareGenetic testingGenomicsHealth disparitiesNursing carePatient empowermentRare diseases

Identifiers

PMID40345765
PMCPMC12068770

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.