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

Sep 29, 2026

Medical genetic services remain limited in low- and middle-income countries, contributing to poor outcomes for individuals affected by genetic disorders. This online cross-sectional study evaluated perspectives and characterized current practices and attitudes toward genetic services among Nepalese healthcare providers. A web-based survey collected responses from 131 clinicians across disciplines, assessing demographics, experience with genetic services, and perceived barriers to genetic testing and counseling.

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Genetics in Medicine Open (2026) 4, 103477 [www.journals.elsevier.com/genetics-in-medicine-open](www.journals.elsevier.com/genetics-in-medicine-open) ARTICLE Medical genetics needs assessment: An online cross-sectional survey from Nepal Pratiksha Gyawali 1, * , Binaya Shrestha2 , Kelly Beharry3 , Gareema Agarwal3 , Shane C. Quinonez4 1Department of Clinical Biochemistry, Kathmandu University School of Medical Sciences, Kavrepalanchok, Nepal; 2Department of Pathology, Kathmandu University School of Medical Sciences, B.P Highway, Kavrepalanchok, Nepal; 3 University of Michigan Medical School, Ann Arbor, MI; 4Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department Pediatrics, University of Michigan, Ann Arbor, MI | ARTICLE INFO | ABSTRACT | | | --- | --- | --- | | Article history:
Received 17 July 2025
Received in revised form
10 November 2025
Accepted 10 November 2025 Available online 24 November 2025 | 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.
© 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license ([http://creativecommons.org/licenses/by/4.0/](http://creativecommons.org/licenses/by/4.0/)). | | | Keywords: Capacity building Genetic disorders Genetic services Needs assessment Nepal | | | | Introduction
Genetic disorders and congenital anomalies (CAs), defined as structural, functional, and metabolic malformations | | present at birth, are important public health problems given their significant impact on children worldwide.1 Although genetic disorders result from a chromosomal and/or single gene defect, CAs results from the complex interplay | The Article Publishing Charge (APC) for this article was paid by Shane C. Quinonez. *Correspondence and requests for materials should be addressed to Pratiksha Gyawali, Department of Clinical Biochemistry, Kathmandu University School of Medical Sciences, Dhulikhel, P.O. Box number: 11008, Kavrepalanchok, Nepal. Email address: [pgyawali73@gmail.com](pgyawali73@gmail.com) doi: [https://doi.org/10.1016/j.gimo.2025.103477](https://doi.org/10.1016/j.gimo.2025.103477) 2949-7744/© 2025 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license ([http://creativecommons.org/licenses/by/4.0/](http://creativecommons.org/licenses/by/4.0/)). between genetic factors and environmental influences, such as maternal nutrition, infection, and drug exposure.2 Globally, ap

FAQs

What was the purpose of the study in Nepal?

The study assessed perspectives and characterized current practices and attitudes toward genetic services among healthcare providers in Nepal.

How was the survey conducted and who participated?

A web-based survey was completed by 131 clinicians across multiple disciplines.

What barriers to genetic testing were most frequently reported?

The most cited barriers were limited laboratory availability, cost, and logistical challenges.

Sep 29, 2026

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