Genetic testing and reproductive decision-making in Chinese families with inherited retinal disease: a...

To identify variables associated with parental willingness toward genetic testing (GT) and subsequent reproductive (SR) intentions via natural conception (NC) or assisted reproductive technology (ART) among Chinese families with inherited retinal diseases (IRDs).

Cross-sectional study of 136 children with IRDs and their biological parents at two academic referral centers in Shanghai, China (September 2023 to March 2024). Parents were surveyed on demographics, clinical characteristics, parent-reported outcome measures (ROMs) for psychosocial and economic burden, and willingness toward GT and SR. Formal genetic counseling was not available at participating centers.

Among 136 children [mean (SD) age, 7.10 (4.32) years; 50 (36.8%) female and their parents [mean (SD) age, 34.4 (5.8) years; 84 (61.8%) mothers], 72.1% had or were willing to undergo GT. GT willingness was positively associated with child age under 12 (OR, 1.61; P = 0.019), married status (OR, 5.94; P = 0.016), and IRD-related strife (OR, 3.61; P = 0.014), and negatively with parental severe vision impairment (OR, 0.19; P = 0.012). Child gender predicted unwillingness rationale (P = 0.002); parents of males cited apprehension about results, while parents of females cited cost. Most parents indicated SR unwillingness (NC: 60.3%; ART: 52.2%), with greater willingness toward ART than NC (P = 0.041). Both SR types were positively associated with parental vision impairment (NC: OR, 7.67; P = 0.029; ART: OR, 4.82; P = 0.046).

Parental GT and SR decision-making was shaped by clinical and psychosocial factors, underscoring the need for genetic counseling at IRD referral centers.