Abstract Details

Title Foundation Sponsored Genetic Counseling and Testing Program for Spinocerebellar Ataxia (SCA) Types 1, 2, and 3: Analysis of the First Two Years of Service

Topic Movement Disorders

Presentation(s) P6 - Poster Session 6 (8:00 AM-9:00 AM)

Poster/Presentation
Number 3-018

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.

Authors/Disclosures
Kelsey Trace, OTD (National Ataxia Foundation) PRESENTER	Dr. Trace has received personal compensation for serving as an employee of National Ataxia Foundation.
Michelle Hearn (Genome Medical)	No disclosure on file
Celeste Suart (National Ataxia Foundation)	No disclosure on file
Natalie Beck (Genome Medical)	Natalie Beck has nothing to disclose.
Lauren Moore, PhD (National Ataxia Foundation)	Dr. Moore has nothing to disclose.

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