Clinical utility of genomic sequencing: a measurement toolkit

Abstract Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inc...

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Autores principales:	Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan Lanpher, Vaidehi Jobanputra, Roberto Mendoza, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan Ashley, Medical Genome Initiative
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2020
Materias:	Medicine R Genetics QH426-470
Acceso en línea:	https://doaj.org/article/1ed1964adc59405fabebc0e2ef72b8b1
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spelling	oai:doaj.org-article:1ed1964adc59405fabebc0e2ef72b8b12021-12-02T12:40:42ZClinical utility of genomic sequencing: a measurement toolkit10.1038/s41525-020-00164-72056-7944https://doaj.org/article/1ed1964adc59405fabebc0e2ef72b8b12020-12-01T00:00:00Zhttps://doi.org/10.1038/s41525-020-00164-7https://doaj.org/toc/2056-7944Abstract Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inconsistencies in the definition and measurement of clinical utility. For example, what constitutes clinical utility for WGS varies by stakeholder’s perspective (physicians, patients, families, insurance companies, health-care organizations, and society), clinical context (prenatal, pediatric, critical care, adult medicine), and test purpose (diagnosis, screening, treatment selection). A rapidly evolving technology landscape and challenges associated with robust comparative study design in the context of rare disease further impede progress in this area of empiric research. To address this challenge, an expert working group of the Medical Genome Initiative was formed. Following a consensus-based process, we align with a broad definition of clinical utility and propose a conceptually-grounded and empirically-guided measurement toolkit focused on four domains of utility: diagnostic thinking efficacy, therapeutic efficacy, patient outcome efficacy, and societal efficacy. For each domain of utility, we offer specific indicators and measurement strategies. While we focus on diagnostic applications of WGS for rare germline diseases, this toolkit offers a flexible framework for best practices around measuring clinical utility for a range of WGS applications. While we expect this toolkit to evolve over time, it provides a resource for laboratories, clinicians, and researchers looking to characterize the value of WGS beyond the laboratory.Robin Z. HayeemsDavid DimmockDavid BickJohn W. BelmontRobert C. GreenBrendan LanpherVaidehi JobanputraRoberto MendozaShashi KulkarniMegan E. GroveStacie L. TaylorEuan AshleyMedical Genome InitiativeNature PortfolioarticleMedicineRGeneticsQH426-470ENnpj Genomic Medicine, Vol 5, Iss 1, Pp 1-11 (2020)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Genetics QH426-470
spellingShingle	Medicine R Genetics QH426-470 Robin Z. Hayeems David Dimmock David Bick John W. Belmont Robert C. Green Brendan Lanpher Vaidehi Jobanputra Roberto Mendoza Shashi Kulkarni Megan E. Grove Stacie L. Taylor Euan Ashley Medical Genome Initiative Clinical utility of genomic sequencing: a measurement toolkit
description	Abstract Whole-genome sequencing (WGS) is positioned to become one of the most robust strategies for achieving timely diagnosis of rare genomic diseases. Despite its favorable diagnostic performance compared to conventional testing strategies, routine use and reimbursement of WGS are hampered by inconsistencies in the definition and measurement of clinical utility. For example, what constitutes clinical utility for WGS varies by stakeholder’s perspective (physicians, patients, families, insurance companies, health-care organizations, and society), clinical context (prenatal, pediatric, critical care, adult medicine), and test purpose (diagnosis, screening, treatment selection). A rapidly evolving technology landscape and challenges associated with robust comparative study design in the context of rare disease further impede progress in this area of empiric research. To address this challenge, an expert working group of the Medical Genome Initiative was formed. Following a consensus-based process, we align with a broad definition of clinical utility and propose a conceptually-grounded and empirically-guided measurement toolkit focused on four domains of utility: diagnostic thinking efficacy, therapeutic efficacy, patient outcome efficacy, and societal efficacy. For each domain of utility, we offer specific indicators and measurement strategies. While we focus on diagnostic applications of WGS for rare germline diseases, this toolkit offers a flexible framework for best practices around measuring clinical utility for a range of WGS applications. While we expect this toolkit to evolve over time, it provides a resource for laboratories, clinicians, and researchers looking to characterize the value of WGS beyond the laboratory.
format	article
author	Robin Z. Hayeems David Dimmock David Bick John W. Belmont Robert C. Green Brendan Lanpher Vaidehi Jobanputra Roberto Mendoza Shashi Kulkarni Megan E. Grove Stacie L. Taylor Euan Ashley Medical Genome Initiative
author_facet	Robin Z. Hayeems David Dimmock David Bick John W. Belmont Robert C. Green Brendan Lanpher Vaidehi Jobanputra Roberto Mendoza Shashi Kulkarni Megan E. Grove Stacie L. Taylor Euan Ashley Medical Genome Initiative
author_sort	Robin Z. Hayeems
title	Clinical utility of genomic sequencing: a measurement toolkit
title_short	Clinical utility of genomic sequencing: a measurement toolkit
title_full	Clinical utility of genomic sequencing: a measurement toolkit
title_fullStr	Clinical utility of genomic sequencing: a measurement toolkit
title_full_unstemmed	Clinical utility of genomic sequencing: a measurement toolkit
title_sort	clinical utility of genomic sequencing: a measurement toolkit
publisher	Nature Portfolio
publishDate	2020
url	https://doaj.org/article/1ed1964adc59405fabebc0e2ef72b8b1
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Clinical utility of genomic sequencing: a measurement toolkit

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