Abstract
Purpose :
Genetic confirmation of an X-linked inherited retinal disease (XL-IRD) provides clarity for a diagnosis, potential qualification for clinical trials, and reproductive risk information. To better understand the relationship between reproductive decision-making and the diagnostic experience, we investigated the diagnostic experience, severity of symptoms, and knowledge of assisted reproductive technology for adult XX individuals with a personal or family history of an XL-IRD.
Methods :
We collected data through an anonymous Qualtrics survey distributed to Casey Eye Institute patients and the My Retina Tracker and Choroideremia Research Foundation list-serves. Participants electronically consented to the survey between July and November 2023. Responses were analyzed for significant associations through Fisher's exact tests, one-way ANOVA, and Cochran-Armitage tests of trend.
Results :
Of the 118 participants, 67% had confirmed genetics or a family history of an XL-IRD related to CHM, 23% to RPGR/RP2, 5% to RS1, and 3% to NYX/CACNA1F. Our analysis revealed that 55% of participants would have preferred genetic testing earlier if it had been possible. There was a significant association between the preference of earlier genetic testing and familiarity with in vitro fertilization utilizing sex selection (p = 0.002) and pre-implantation genetic testing (p < 0.001). Only 26 participants (22.0%) received some sort of reproductive genetic counseling, 15 (57.7%) of which were counseled by a genetic counselor at a retinal dystrophy clinic. While not statistically significant (p = 0.085), patients who received counseling from a genetic counselor at a retinal dystrophy clinic were more likely to report satisfaction with their counseling (11 out of 15) than those who did not (7 out of 18).
Conclusions :
The majority of XX individuals with confirmed genetics or a family history of XL-IRDs did not report receiving reproductive counseling in relation to their diagnosis. However, their personal and familial experiences with an XL-IRD variably impacted their reproductive decision-making process. This study sheds light on the current setting of reproductive counseling received by these carriers. Recognition that retinal dystrophy clinics are the primary location for XL-IRD reproductive risk counseling may inform the timing and content of counseling by ophthalmic genetics providers and genetic counselors.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.