International Survey on Genetic Literacy and Awareness in Patients With Spinal and Bulbar Muscular Atrophy

Genetic literacy is important for the development and implementation of novel therapies for inherited neurodegenerative diseases such as spinal and bulbar muscular atrophy (SBMA). However, genetic literacy has not been well studied in this patient population. This study sought to examine the genetic literacy and awareness of patients with SBMA across different cultural backgrounds using a survey.

The questions used in the survey were developed in collaboration with the Japanese and 2 international SBMA patient organizations. Questionnaires were sent by post or electronically to patients with SBMA. Participants were queried about their knowledge of genetics, sharing of genetic information, genetic testing for at-risk individuals, genetic counseling, assisted reproductive technology, and other topics. We analyzed patients by dividing them into 3 groups: Japan group, Americas and Europe group, and Asia-Oceania (excluding Japan) group.

A total of 304 and 336 questionnaires were received from Japan and from other countries, respectively, with an overall valid response rate of 45.0% (628/1,395). Across all groups, around 30-40% of patients had high genetic literacy. In the Japan and Asia-Oceania groups, patients were less likely to share genetic information with family members than those in the Americas and Europe group (p < 0.05). Japanese patients were also less proactive in pursuing genetic testing for at-risk male and female carriers than those in other groups (p < 0.05). Patients with high genetic literacy were significantly younger than those in the low literacy group (57.6 ± 9.5 years vs 62.5 ± 10.6 years; p < 0.001) and were more willing to share disease information with their families, as well as participate in clinical research on patients with SBMA in Japan.

In this international survey of patients with SBMA, willingness to share genetic information with and to recommend presymptomatic genetic testing to family members varied across cultural backgrounds and was also associated with levels of genetic literacy.