Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray

被引：33

作者：

Hayeems, Robin Z. x ^{[1
,2
]}

Bhawra, Jasmin ^{[3
]}

Tsiplova, Kate ^{[1
]}

Meyn, M. Stephen ^{[4
,5
,6
]}

Monfared, Nasim ^{[4
,7
]}

Bowdin, Sarah ^{[4
,6
]}

Stavropoulos, D. James ^{[8
,9
]}

Marshall, Christian R. ^{[8
,9
,10
]}

Basran, Raveen ^{[8
]}

Shuman, Cheryl ^{[4
,5
,7
]}

Ito, Shinya ^{[11
]}

Cohn, Iris ^{[11
]}

Hum, Courtney ^{[12
]}

Girdea, Marta ^{[13
]}

Brudno, Michael ^{[13
,14
,15
]}

Cohn, Ronald D. ^{[5
,6
,15
,16
]}

Scherer, Stephen W. ^{[5
,10
,15
,17
]}

Ungar, Wendy J. ^{[1
,2
]}

机构：

[1] Hosp Sick Children, Child Hlth Evaluat Sci, Toronto, ON, Canada

[2] Univ Toronto, Inst Hlth Policy Management & Evaluat, Toronto, ON, Canada

[3] Univ Waterloo, Sch Publ Hlth & Hlth Syst, Waterloo, ON, Canada

[4] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada

[5] Univ Toronto, Dept Mol Genet, Toronto, ON, Canada

[6] Univ Toronto, Dept Pediat, Toronto, ON, Canada

[7] Hosp Sick Children, Dept Genet Counselling, Toronto, ON, Canada

[8] Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON, Canada

[9] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

[10] Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada

[11] Hosp Sick Children, Div Clin Pharmacol & Toxicol, Toronto, ON, Canada

[12] Sinai Hlth Syst, Prenatal Diag & Med Genet Program, Toronto, ON, Canada

[13] Hosp Sick Children, Ctr Computat Med, Toronto, ON, Canada

[14] Univ Toronto, Dept Comp Sci, Toronto, ON, Canada

[15] Hosp Sick Children, Program Genet & Genom Biol, Toronto, ON, Canada

[16] Hosp Sick Children, Div Pediat Med, Toronto, ON, Canada

[17] Univ Toronto, McLaughlin Ctr, Toronto, ON, Canada

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2017年 / 25卷 / 12期

关键词：

CLINICAL UTILITY; HEALTH-CARE; CHILDREN; MEDICINE; PATIENT; MANAGEMENT; IMPACT;

D O I：

10.1038/s41431-017-0020-3

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The clinical use of whole-genome sequencing (WGS) is expected to alter pediatric medical management. The study aimed to describe the type and cost of healthcare activities following pediatric WGS compared to chromosome microarray (CMA). Healthcare activities prompted by WGS and CMA were ascertained for 101 children with developmental delay over 1 year. Activities following receipt of non-diagnostic CMA were compared to WGS diagnostic and non-diagnostic results. Activities were costed in 2016 Canadian dollars (CDN). Ongoing care accounted for 88.6% of post-test activities. The mean number of lab tests was greater following CMA than WGS (0.55 vs. 0.09; p = 0.007). The mean number of specialist visits was greater following WGS than CMA (0.41 vs. 0; p = 0.016). WGS results (diagnostic vs. non-diagnostic) modified the effect of test type on mean number of activities (p < 0.001). The cost of activities prompted by diagnostic WGS exceeded $557CDN for 10% of cases. In complex pediatric care, CMA prompted additional diagnostic investigations while WGS prompted tailored care guided by genotypic variants. Costs for prompted activities were low for the majority and constitute a small proportion of total test costs. Optimal use of WGS depends on robust evaluation of downstream care and cost consequences.

引用

页码：1303 / 1312

页数：10

共 42 条

[1]

[Anonymous], 2011, DIAGN ASS PROGR MAN

[2]

[Anonymous], 2011, NEXT STEPS SEQUENCE

[3] Whole-Genome Sequencing for Optimized Patient Management [J].

Bainbridge, Matthew N. ;

Wiszniewski, Wojciech ;

Murdock, David R. ;

Friedman, Jennifer ;

Gonzaga-Jauregui, Claudia ;

Newsham, Irene ;

Reid, Jeffrey G. ;

Fink, John K. ;

Morgan, Margaret B. ;

Gingras, Marie-Claude ;

Muzny, Donna M. ;

Hoang, Linh D. ;

Yousaf, Shahed ;

Lupski, James R. ;

Gibbs, Richard A. .

SCIENCE TRANSLATIONAL MEDICINE, 2011, 3 (87)

[4] Beyond Diagnostic Accuracy: The Clinical Utility of Diagnostic Tests [J].

Bossuyt, Patrick M. M. ;

Reitsma, Johannes B. ;

Linnet, Kristian ;

Moons, Karel G. M. .

CLINICAL CHEMISTRY, 2012, 58 (12) :1636-1643

[5] The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine [J].

Bowdin, S. C. ;

Hayeems, R. Z. ;

Monfared, N. ;

Cohn, R. D. ;

Meyn, M. S. .

CLINICAL GENETICS, 2016, 89 (01) :10-19

[6] The Genome Clinic: A Multidisciplinary Approach to Assessing the Opportunities and Challenges of Integrating Genomic Analysis into Clinical Care [J].

Bowdin, Sarah ;

Ray, Peter N. ;

Cohn, Ronald D. ;

Meyn, M. Stephen .

HUMAN MUTATION, 2014, 35 (05) :513-519

[7] Reflections on the Cost of "Low-Cost" Whole Genome Sequencing: Framing the Health Policy Debate [J].

Caulfield, Timothy ;

Evans, Jim ;

McGuire, Amy ;

McCabe, Christopher ;

Bubela, Tania ;

Cook-Deegan, Robert ;

Fishman, Jennifer ;

Hogarth, Stuart ;

Miller, Fiona A. ;

Ravitsky, Vardit ;

Biesecker, Barbara ;

Borry, Pascal ;

Cho, Mildred K. ;

Carroll, June C. ;

Etchegary, Holly ;

Joly, Yann ;

Kato, Kazuto ;

Lee, Sandra Soo-Jin ;

Rothenberg, Karen ;

Sankar, Pamela ;

Szego, Michael J. ;

Ossorio, Pilar ;

Pullman, Daryl ;

Rousseau, Francois ;

Ungar, Wendy J. ;

Wilson, Brenda .

PLOS BIOLOGY, 2013, 11 (11)

[8] Assessing the Costs and Cost-Effectiveness of Genomic Sequencing [J].

Christensen, Kurt D. ;

Dukhovny, Dmitry ;

Siebert, Uwe ;

Green, Robert C. .

JOURNAL OF PERSONALIZED MEDICINE, 2015, 5 (04) :470-486

[9] Patterns and Costs of Health Care Use of Children With Medical Complexity [J].

Cohen, Eyal ;

Berry, Jay G. ;

Camacho, Ximena ;

Anderson, Geoff ;

Wodchis, Walter ;

Guttmann, Astrid .

PEDIATRICS, 2012, 130 (06) :E1463-E1470

[10] Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study [J].

Cohn, Iris ;

Paton, Tara A. ;

Marshall, Christian R. ;

Basran, Raveen ;

Stavropoulos, Dimitri J. ;

Ray, Peter N. ;

Monfared, Nasim ;

Hayeems, Robin Z. ;

Meyn, M. Stephen ;

Bowdin, Sarah ;

Scherer, Stephen W. ;

Cohn, Ronald D. ;

Ito, Shinya .

NPJ GENOMIC MEDICINE, 2017, 2

← 1 2 3 4 5 →