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

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.

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.

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.

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.