Factors impacting experience of genetic testing among adults with inherited retinal diseases

Genetic testing for inherited retinal diseases (IRDs) has become more accessible in Australia in recent years; however, it is not clear how different factors influence the experiences of genetic counseling and support needs. This study used a phenomenological approach to explore the experiences of adults (over 18 years) who had genetic testing in Australia for an IRD, and factors that impacted their perceptions and support needs. Semi-structured interviews were undertaken, transcribed, and de-identified from 14 interviews with adults living with an IRD, representing a diverse range of experiences. Reflexive thematic analysis was used to iteratively code the transcripts and construct key themes. The four key themes impacting the experience of genetic testing were: (1) Expectations of genetic testing outcomes and expectations. The possibility of emerging treatments often influenced the expectations that people with IRDs had of genetic testing. (2) Personal attitudes toward an IRD diagnosis and how this interacted with individual identity, with higher support needs reported by individuals who accessed genetic testing shortly after their clinical diagnosis compared to those who had lived with an IRD diagnosis for a longer time. (3) Family context as a source of lived experience and emotional support. (4) Logistics of the genetic testing process, with inconsistent pathways of communication between healthcare providers impacting access and follow-up support. Individuals with IRDs who underwent genetic testing placed a high value on having this information. However, additional genetic counseling support is needed for individuals undergoing genetic testing soon after receiving a clinical diagnosis, those with complex family/cultural dynamics, and those receiving inconclusive results. Setting appropriate expectations around outcomes and addressing logistical factors are important for guiding the overall genetic testing experience.