Objective:

To describe the usage, genetic results, and participant perceptions of a foundation-sponsored genetic counseling and testing program for SCA 1, 2, and 3. 

Background:

Molecular testing is a critical tool to aid in clinical care and lifestyle decisions for individuals at-risk for hereditary ataxias. Obstacles to molecular diagnosis in the U.S. persist, such as perceived cost, fear of discrimination, and limited access to specialized healthcare. Foundation-sponsored genetic testing programs have shown promise in neurological diseases. We launched a sponsored genetic counseling and testing program in February 2022 for the most prevalent SCAs. Eligibility criteria require participants to be ≥18 years old, reside in the U.S., and have at least one relative with a diagnosis of SCA types 1, 2, or 3. Required pre-test and optional post-test genetic counseling visits are provided via telehealth with a certified genetic counselor. Following at-home buccal swab sample collection, a CLIA-approved clinical lab processes tests. 

Design/Methods:

Data compiled represents deidentified metrics from the genetic counseling service, the testing laboratory, and an anonymous participant survey sent 6 weeks post referral. The participant survey includes questions on demographics, participant satisfaction, and attitudes toward genetic counseling and testing.  

Results:

In the first 20 months of this program (2/2/2022 to 9/30/2023), 242 patients completed at least one counseling visit, and a total of 373 counseling visits occurred. 165 participants received genetic test results (SCA1 n=34, SCA2 n=40, SCA3 n=91). Survey results indicated high satisfaction ratings with the program across all genotypes. 97% of survey respondents indicated they would recommend this initiative to relatives. Over half of respondents selected, “didn’t know how,” as a primary reason for not getting tested previously. 

Conclusions:

Overall, 165 individuals received molecular results, demonstrating that this foundation-initiated framework can be successful in rare disease. Data collection is ongoing and will be updated in January.