Journal article
Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
D Schofield, K Alam, L Douglas, R Shrestha, DG MacArthur, M Davis, NG Laing, NF Clarke, J Burns, ST Cooper, KN North, SA Sandaradura, GL O'Grady
Npj Genomic Medicine | NATURE PUBLISHING GROUP | Published : 2017
Abstract
Childhood-onset muscle disorders are genetically heterogeneous. Diagnostic workup has traditionally included muscle biopsy, protein-based studies of muscle specimens, and candidate gene sequencing. High throughput or massively parallel sequencing is transforming the approach to diagnosis of rare diseases; however, evidence for cost-effectiveness is lacking. Patients presenting with suspected congenital muscular dystrophy or nemaline myopathy were ascertained over a 15-year period. Patients were investigated using traditional diagnostic approaches. Undiagnosed patients were investigated using either massively parallel sequencing of a panel of neuromuscular disease genes panel, or whole exome ..
View full abstractGrants
Awarded by Royal Australasian College of Physicians
Funding Acknowledgements
This study was supported by the National Health and Medical Research Council of Australia (1022707, 1031893, N.F.C,N.G.L., K.N.N, J.B.; APP1002147, N.G.L.; GNT1113531, K.N., N.G.L., S.T.C., D.S.; 1056285, G.L.O; 1075451, S.A.S; 1048816 S.T.C; 1080587 N.G.L., S.T.C., D.G.M., N.F.C., K.N.N.), NHMRC-European Union Collaborative Research Grant Scheme (1055131, K.N., J.B) and the Victorian Government's Operational Infrastructure Support Program. G.L.O. received funding from Muscular Dystrophy NSW and the Royal Australasian College of Physicians. Exome sequencing was supported by grants from the NIH National Human Genome Research Institute (Medical Sequencing Program grant U54 HG003067 to the Broad Institute principal investigator).