Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

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...

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Autores principales:	Deborah Schofield, Khurshid Alam, Lyndal Douglas, Rupendra Shrestha, Daniel G. MacArthur, Mark Davis, Nigel G. Laing, Nigel F. Clarke, Joshua Burns, Sandra T. Cooper, Kathryn N. North, Sarah A. Sandaradura, Gina L. O’Grady
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/7b114791b2e44d7cabd2c2fc9832f309
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spelling	oai:doaj.org-article:7b114791b2e44d7cabd2c2fc9832f3092021-12-02T16:08:59ZCost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases10.1038/s41525-017-0006-72056-7944https://doaj.org/article/7b114791b2e44d7cabd2c2fc9832f3092017-03-01T00:00:00Zhttps://doi.org/10.1038/s41525-017-0006-7https://doaj.org/toc/2056-7944Abstract 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 sequencing. Cost data were collected for all diagnostic investigations. The diagnostic yield and cost effectiveness of a molecular approach to diagnosis, prior to muscle biopsy, were compared with the traditional approach. Fifty-six patients were analysed. Compared with the traditional invasive muscle biopsy approach, both the neuromuscular disease panel and whole exome sequencing had significantly increased diagnostic yields (from 46 to 75% for the neuromuscular disease panel, and 79% for whole exome sequencing), and reduced the cost per diagnosis from USD$16,495 (95% CI: $12,413–$22,994) to USD$3706 (95% CI: $3086–$4453) for the neuromuscular disease panel and USD$5646 (95% CI: $4501–$7078) for whole exome sequencing. The neuromuscular disease panel was the most cost-effective, saving USD$17,075 (95% CI: $10,654–$30,064) per additional diagnosis, over the traditional diagnostic pathway. Whole exome sequencing saved USD$10,024 (95% CI: $5795–$17,135) per additional diagnosis. This study demonstrates the cost-effectiveness of investigation using massively parallel sequencing technologies in paediatric muscle disease. The findings emphasise the value of implementing these technologies in clinical practice, with particular application for diagnosis of Mendelian diseases, and provide evidence crucial for government subsidy and equitable access.Deborah SchofieldKhurshid AlamLyndal DouglasRupendra ShresthaDaniel G. MacArthurMark DavisNigel G. LaingNigel F. ClarkeJoshua BurnsSandra T. CooperKathryn N. NorthSarah A. SandaraduraGina L. O’GradyNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 2, Iss 1, Pp 1-7 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Deborah Schofield Khurshid Alam Lyndal Douglas Rupendra Shrestha Daniel G. MacArthur Mark Davis Nigel G. Laing Nigel F. Clarke Joshua Burns Sandra T. Cooper Kathryn N. North Sarah A. Sandaradura Gina L. O’Grady Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
description	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 sequencing. Cost data were collected for all diagnostic investigations. The diagnostic yield and cost effectiveness of a molecular approach to diagnosis, prior to muscle biopsy, were compared with the traditional approach. Fifty-six patients were analysed. Compared with the traditional invasive muscle biopsy approach, both the neuromuscular disease panel and whole exome sequencing had significantly increased diagnostic yields (from 46 to 75% for the neuromuscular disease panel, and 79% for whole exome sequencing), and reduced the cost per diagnosis from USD$16,495 (95% CI: $12,413–$22,994) to USD$3706 (95% CI: $3086–$4453) for the neuromuscular disease panel and USD$5646 (95% CI: $4501–$7078) for whole exome sequencing. The neuromuscular disease panel was the most cost-effective, saving USD$17,075 (95% CI: $10,654–$30,064) per additional diagnosis, over the traditional diagnostic pathway. Whole exome sequencing saved USD$10,024 (95% CI: $5795–$17,135) per additional diagnosis. This study demonstrates the cost-effectiveness of investigation using massively parallel sequencing technologies in paediatric muscle disease. The findings emphasise the value of implementing these technologies in clinical practice, with particular application for diagnosis of Mendelian diseases, and provide evidence crucial for government subsidy and equitable access.
format	article
author	Deborah Schofield Khurshid Alam Lyndal Douglas Rupendra Shrestha Daniel G. MacArthur Mark Davis Nigel G. Laing Nigel F. Clarke Joshua Burns Sandra T. Cooper Kathryn N. North Sarah A. Sandaradura Gina L. O’Grady
author_facet	Deborah Schofield Khurshid Alam Lyndal Douglas Rupendra Shrestha Daniel G. MacArthur Mark Davis Nigel G. Laing Nigel F. Clarke Joshua Burns Sandra T. Cooper Kathryn N. North Sarah A. Sandaradura Gina L. O’Grady
author_sort	Deborah Schofield
title	Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
title_short	Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
title_full	Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
title_fullStr	Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
title_full_unstemmed	Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
title_sort	cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/7b114791b2e44d7cabd2c2fc9832f309
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Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases

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