Objective: To describe volume, genetic results, and participant perceptions of 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 [1][2]. Yet, obstacles to molecular diagnosis in the U.S. persist, such as perceived cost, fear of discrimination, and limited access to resources [3][4][5]. Foundation sponsored genetic testing programs have shown promise in neurological diseases, such as Parkinson’s Disease [6]. We aimed to evaluate if a similar approach could aid in the diagnosis of SCAs. The NAF launched a sponsored genetic counseling and testing program for SCA3 in February 2022, expanding to SCA types 1 and 2 in June 2022. Eligibility criteria require participants to be ≥18 years, 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.

Method: Data complied represents deidentified metrics from the genetic counseling service, the testing laboratory, and an anonymous participant survey, sent 6 weeks post referral, including questions on demographics, customer satisfaction, and attitudes toward genetic counseling and testing.

Results: In the first 12 months of this program (2/2/2022 to 2/1/2023), 114 patients completed at least 1 counseling visit, and a total of 169 counseling visits occurred. 78 participants received genetic test results [SCA1: N= 22, 10 (+)/intermediate, 12 (-); SCA2: N=11, 7 (+), 4 (-); SCA3: N=45, 27 (+)/intermediate, 18 (-)]. With a 41% response rate, 77% of survey respondents identified as white. Survey results indicated high satisfaction ratings (avg 4.5/5 on Likert scale). Of 35 survey respondents, 97% indicated they would recommend this initiative to family. Over half of respondents selected, “didn’t know how,” as a primary reason for not getting tested previously.

Conclusion: Overall, 78 individuals received molecular results and actionable next steps demonstrating that this foundation-initiated framework can be successful in rare disease. A need remains to expand outreach, especially to non-white participants.

References: [1] Cahn S, Rosen A, Wilmot G. Spinocerebellar Ataxia Patient Perceptions Regarding Reproductive Options. Mov Disord Clin Pract. 2019 Nov 25;7(1):37-44. doi: 10.1002/mdc3.12859. PMID: 31970210; PMCID: PMC6962671.

[2] Roberts JS, Patterson AK, Uhlmann WR. Genetic testing for neurodegenerative diseases: Ethical and health communication challenges. Neurobiol Dis. 2020 Jul;141:104871. doi: 10.1016/j.nbd.2020.104871. Epub 2020 Apr 14. PMID: 32302673; PMCID: PMC7311284.

[3] Gatto EM, Walker RH, Gonzalez C, Cesarini M, Cossu G, Stephen CD, Balint B, Rodríguez-Violante M, Jankovic J, Morgante F, Jinnah HA; Rare Movement Disorders Study Group of the International Parkinson Disease, Movement Disorders Society. Worldwide barriers to genetic testing for movement disorders. Eur J Neurol. 2021 Jun;28(6):1901-1909. doi: 10.1111/ene.14826. Epub 2021 Apr 9. PMID: 33730413.

[4] Brooker SM, Edamakanti CR, Akasha SM, Kuo SH, Opal P. Spinocerebellar ataxia clinical trials: opportunities and challenges. Ann Clin Transl Neurol. 2021 Jul;8(7):1543-1556. doi: 10.1002/acn3.51370. Epub 2021 May 21. PMID: 34019331; PMCID: PMC8283160.

[5] Wauters A, Van Hoyweghen I. Global trends on fears and concerns of genetic discrimination: a systematic literature review. J Hum Genet. 2016 Apr;61(4):275-82. doi: 10.1038/jhg.2015.151. Epub 2016 Jan 7. PMID: 26740237.

[6] Parkinson’s Foundation Global Genetics Study Hits Enrollment Milestone. News Release. Parkinson’ Foundation. Published January 24, 2023. Accessed March 13, 2023. https://www.parkinson.org/about-us/news/pdgene-enrollment-milestone

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MDS Abstracts - https://www.mdsabstracts.org/abstract/learnings-from-inaugural-year-of-foundation-sponsored-genetic-counseling-and-testing-program-for-spinocerebellar-ataxia-sca-types-1-2-and-3/