Evidence map›Paper›PMID 41497194›Full record

ArticleGenetics in medicine open2026

Medical genetics needs assessment: An online cross-sectional survey from Nepal.

Pratiksha Gyawali, Binaya Shrestha, Kelly Beharry, Gareema Agarwal, Shane C Quinonez

Abstract read
In one paragraph

Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Pratiksha GyawaliDepartment of Clinical Biochemistry, Kathmandu University School of Medical Sciences, Kavrepalanchok, Nepal.
Binaya ShresthaDepartment of Pathology, Kathmandu University School of Medical Sciences, B.P Highway, Kavrepalanchok, Nepal.
Kelly BeharryUniversity of Michigan Medical School, Ann Arbor, MI.
Gareema AgarwalUniversity of Michigan Medical School, Ann Arbor, MI.
Shane C QuinonezDivision of Pediatric Genetics, Metabolism and Genomic Medicine, Department Pediatrics, University of Michigan, Ann Arbor, MI.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: Medical genetic services remain limited in low- and middle- income countries, such as Nepal, leading to poor health outcomes for individuals affected by genetic disorders. This study aimed to assess perspective and characterize current practices and attitudes toward genetic services among health care providers in Nepal. Methods: A web-based survey was completed by 131 clinicians across multiple disciplines, exploring participant demographics, experience with genetic services, and perceived barriers to genetic testing and counseling. Results: Although 42% of respondents reported regularly caring for patients with suspected genetic disorders, 77% of providers reported difficulties with obtaining genetic testing. The most frequently cited barriers included limited laboratory availability (28%), cost (26%), and logistical challenges (19%). Many respondents reported confidence in discussing disease recurrence risk (63%), treating genetic disorders (40%), and providing genetic counseling (48%), and the majority (86%) expressed interest in furthering their genetic education because only 19% felt their current genetics knowledge was sufficient. Conclusion: This study highlights a clear demand for accessible, affordable, in-country genetic services in Nepal and underscores the need for investment in clinical training and capacity building to improve access and outcomes for patients with genetic disorders.

Indexed as

Capacity buildingGenetic disordersGenetic servicesNeeds assessmentNepal

Identifiers

PMID41497194
PMCPMC12767790

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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.