By engaging people with lived experiences of aniridia, this study revealed several motivators and barriers to genetic testing. Reproductive planning was cited as an important factor influencing the decision-making process of the study’s participants. This finding resonates with a recent study exploring the experiences of individuals with intellectual disabilities, where they identified potential benefits of genetic testing as gaining a better understanding of their condition, ruling out other conditions and improved access to relevant support (Strnadová et al. 2023). A participant in the current study conveyed a desire to undergo genetic testing and participate in research to contribute to advancing knowledge that could alleviate the burden of the condition for future generations. This motivation is consistent for other rare disease patients, whereby altruism is a strong catalyst for pursuing genetic testing, particularly in the context of research (Dwyer et al. 2022).

The cost associated with genetic testing emerged as a notable barrier for some study participants. This concern aligns with the findings from a qualitative study conducted in Boston, USA, where individuals affected by rare diseases identified the cost as the primary barrier preventing them from receiving genetic testing, with specific concerns around insurance coverage (Dwyer et al. 2022). Similarly in an Australian discrete choice experiment study, participants reported a reluctance to genetic testing when presented with higher costs and requirement to disclose results to health insurers (Goranitis et al. 2020). It is important to account for the geographical location of patients, as the costs and insurance coverage can vary (Robillard et al. 2021).

The importance of receiving accurate information about genetic testing emerged as crucial factors guiding participants’ decision-making. This aspect is reflected by a participant in this study who was deterred from pursuing genetic testing due to a lack of information. This finding is especially relevant in light of previous studies that have found a lack of information and guidance on accessibility and reimbursement for genetic testing (Robillard et al. 2021; Chiang et al. 2015). Individuals with other inherited retinal diseases share similar needs for comprehensive information about gene therapy (Mack et al. 2023). Despite knowledge gaps, these individuals reported willingness to undergo treatment if it were available (Mack et al. 2023). Given the complexity of genetic testing and its implications, as well as the continuous development of new technologies, it is critical that individuals with rare genetic conditions are informed on the potential benefits and risks, and updated information around genetic testing and therapy (Robillard et al. 2021; Mack et al. 2023). Moreover, as genetic testing can impact eligibility for participation in research and clinical trials, information about these implications should be accurately disseminated to individuals with aniridia to avoid confusion or coercion, as well as to mitigate therapeutic misconception (Benjaminy et al. 2015).

When thinking about the effective delivery of genetic testing information and knowledge, genetic counsellors play a crucial role in supporting individuals navigate their ocular disease (Gillespie et al. 2014). While access to genetic counselling should be a priority to support decision-making around testing and specifically access to genetic counsellors with expertise in rare diseases, the use of online decisional support could be a potential measure to mitigate the shortage of genetic counsellors for rare diseases (Dwyer et al. 2022). These tools can also serve to raise awareness of genetic testing and counselling options and increase access to information and support for patients and families (Dwyer et al. 2022).

The small sample in this study is an important limitation, and while data saturation was achieved with our data set, we acknowledge that a larger and more diverse sample may have yielded different perspectives. Future studies can expand upon the present work by engaging a broader demographic of individuals living with aniridia, and by including a focus on parents of children with aniridia undergoing the decision-making process for genetic testing. In addition, we acknowledge that aniridia can manifest due to numerous pathogenic variants. Given that our study did not include inquiries into the specific pathogenic variants present in participants, it is important to interpret the findings accordingly.