Clinical utility of genomic sequencing: a measurement toolkit

被引:51
作者
Hayeems, Robin Z. [1 ,2 ]
Dimmock, David [3 ]
Bick, David [4 ]
Belmont, John W. [5 ]
Green, Robert C. [6 ,7 ]
Lanpher, Brendan [8 ]
Jobanputra, Vaidehi [9 ,10 ]
Mendoza, Roberto [11 ]
Kulkarni, Shashi [12 ,13 ,14 ]
Grove, Megan E. [15 ]
Taylor, Stacie L. [5 ]
Ashley, Euan [15 ]
机构
[1] Univ Toronto, Hosp Sick Children, Program Child Hlth Evaluat Sci, Toronto, ON, Canada
[2] Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada
[3] Rady Childrens Hosp, Inst Genom Med, San Diego, CA USA
[4] HudsonAlpha Inst Biotechnol, Huntsville, AL USA
[5] Illumina Inc, San Diego, CA USA
[6] Brigham & Womens Hosp Broad Inst, Boston, MA USA
[7] Harvard Med Sch, Boston, MA 02115 USA
[8] Mayo Clin, Rochester, MN USA
[9] New York Genome Ctr, New York, NY USA
[10] Columbia Univ, Med Ctr, Dept Pathol & Cell Biol, New York, NY USA
[11] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada
[12] Baylor Genet, Houston, TX USA
[13] Baylor Coll Med, Houston, TX 77030 USA
[14] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA
[15] Stanford Med, Stanford, CA USA
关键词
COST-EFFECTIVENESS; INCIDENTAL FINDINGS; HEALTH; EXOME; CHALLENGES; SPECTRUM; IMPACT; CARE; RECOMMENDATIONS; CHILDREN;
D O I
10.1038/s41525-020-00164-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
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页数:11
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