Angelica Michelle Raney

In Vietnam, access to genetic testing has expanded rapidly, but the genetic counseling needed to translate genetic testing results into informed healthcare decisions remains limited. Currently, genetic counseling is provided by physicians or PhD‐trained laboratory geneticists in Vietnam; there are no Master's‐level trained genetic counselors or genetic counseling training programs. As such, significant gaps exist in the genetic counseling services offered to patients and families in Vietnam. To date, limited research has explored how to implement the profession of genetic counselors in Vietnam. This study, therefore, explores the needs, challenges, and opportunities for integrating the profession of genetic counselors into Vietnam's healthcare system from the perspectives of healthcare professionals, institutional leaders, and genetics specialists. Grounded in a constructivist paradigm and the Consolidated Framework for Implementation Research (CFIR), we conducted 25 semi‐structured interviews with healthcare professionals, institutional leaders, and genetics specialists across Northern, Central, and Southern Vietnam in 2025. We purposively sampled participants to represent diverse roles, clinical populations, and institutions, including public and private hospitals, testing laboratories, advocacy organizations, and public health agencies. We collected demographic data via a screening survey and conducted virtual interviews in Vietnamese or English. Using inductive, reflexive thematic analysis, we analyzed transcripts and mapped themes to CFIR to support actionability. Participants described three major themes: (1) genetic testing is outpacing genetics specialists; (2) family, spiritual, and hierarchical frameworks shape the patient response to genetic care; and (3) a phased implementation pathway for genetic counselors is needed. Participants converged on a roadmap that includes raising awareness, embedding genetic counselors within existing clinical pathways, developing short‐ and long‐term training strategies, and securing Ministry of Health recognition and guidelines. These findings constitute the first locally grounded implementation roadmap for genetic counselors in Vietnam.

Background: Spinocerebellar ataxia type 10 (SCA10 or ATX‐ ATXN10 ) is typically attributed to large intronic ATTCT repeat expansions in ATXN10 , yet interpretation is complicated by repeat interruptions, reduced penetrance, and assay limitations. Cases: We describe three patients referred for SCA10 evaluation in whom ATXN10 repeat‐primed PCR (RP‐PCR) reported “>32 repeats, probable pathogenic.” Targeted long‐read sequencing (LRS) identified two individuals with intermediate, mixed repeat tracts (~100–150 repeats) and one individual with a very large, highly pure ATTCT expansion (~1127 repeats). Each phenotype was explained by an alternative disorder: spastic ataxia syndrome caused by biallelic pathogenic FA2H variants (HSP/ATX‐ FA2H ), full‐penetrance ATXN3 CAG expansion consistent with SCA3/ATX‐ ATXN3 , and clinically established MSA‐C. Literature Review: We identified three studies reporting four ATX‐ ATXN10 cases coexisting with Huntington's disease (one case) and SCA2/ATX‐ ATXN2 (three cases). Conclusion: Our three cases suggest that intermediate ATXN10 alleles in the 100–150 range may not be pathogenic and large ATXN10 expansions remain probably pathogenic in most patients with a compatible autosomal‐dominant ataxia phenotype. Comprehensive genetic testing beyond RP‐PCR is necessary for accurate diagnosis.