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Amyotrophic Lateral Sclerosis Genetic Access Program: Paving the Way for Genetic Characterization of ALS in the
Jennifer Roggenbuck1, Kelly A Rich1, Leah Vicini1
1Department of Internal Medicine (J.R.) and Department of Neurology (J.R., K.A.R.), The Ohio State University Wexner Medical Center, Columbus; The Ohio State University Wexner Medical Center (L.V.), College of Medicine, Columbus; Department of Biomedical Informatics (M.P.), The Ohio State University, Center for Biostatistics, Columbus; PreventionGenetics, LLC (J.S., C.Z., T.L., L.D.), Marshfield, WI; The Northeast ALS Consortium (NEALS) (T.L.); and Emory ALS Center (J.D.G.), Emory University School of Medicine, Atlanta, GA.
Objective:
To report the frequency of amyotrophic lateral sclerosis (ALS) genetic variants in a nationwide cohort of clinic-based patients with ALS with a family history of ALS (fALS), dementia (dALS), or both ALS and dementia (fALS/dALS).
Methods:
A multicenter, prospective cohort of 573 patients with fALS, dALS, or fALS/dALS, underwent genetic testing in the ALS Genetic Access Program (ALS GAP), a clinical program for clinics of the Northeast ALS Consortium. Patients with dALS underwent C9orf72 hexanucleotide repeat expansion (HRE) testing; those with fALS or fALS/dALS underwent C9orf72 HRE testing, followed by sequencing of SOD1, FUS, TARDBP, TBK1, and VCP.
Results:
A pathogenic (P) or likely pathogenic (LP) variant was identified in 171/573 (30%) of program participants. About half of patients with fALS or fALS/dALS (138/301, 45.8%) had either a C9orf72 HRE or a P or LP variant identified in SOD1, FUS, TARDBP, TBK1, or VCP. The use of a targeted, 5-gene sequencing panel resulted in far fewer uncertain test outcomes in familial cases compared with larger panels used in other in clinic-based cohorts. Among dALS cases 11.8% (32/270) were found to have the C9orf72 HRE. Patients of non-Caucasian geoancestry were less likely to test positive for the C9orf72 HRE, but were more likely to test positive on panel testing, compared with those of Caucasian ancestry.
Conclusions:
The ALS GAP program provided a genetic diagnosis to ∼1 in 3 participants and may serve as a model for clinical genetic testing in ALS.
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