Living kidney donor program patients’ perceptions of genetic testing: A qualitative study

Living kidney donation offers better outcomes than deceased donor transplantation; however, biologically-related living donor rates have declined, potentially due to emerging genetic risk data. Genetic testing increasingly informs donor eligibility and safety, yet little is known about donor and recipient experiences. This study explores perceptions and experiences of donors and recipients undergoing genetic testing within a living kidney donation program in Ontario, Canada. This qualitative descriptive study was embedded within a larger prospective cohort study. Semi-structured interviews were conducted with 22 participants (11 donors, 11 recipients), including four donor-recipient dyads. Participants were purposively sampled to reflect diverse experiences. Interviews were transcribed and analyzed using inductive thematic analysis. Four themes emerged: (1) reasons for having a genetic test, (2) perceptions and experiences of genetic counselling, (3) clinical impacts of testing, and (4) positive and negative emotional impacts of genetic test results. Participants sought testing to determine donation eligibility, understand disease causes, inform family health, and support research. Genetic counselling was well-received, though participants expressed a need for follow-up. Testing influenced donor eligibility, treatment decisions, and proactive health behaviors. Emotional responses ranged from reassurance to disappointment, particularly when testing disqualified donors or revealed hereditary risks. Genetic testing informs clinical decisions and family health planning in living kidney donation, but also raises emotional and ethical complexities. Findings underscore the need for standardized guidelines, robust genetic counselling, and psychosocial support to optimize transplant programs and guide future clinical pathways and policy for ethical, effective use of genetic testing in transplantation.