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Children 2017, 4(5), 42; doi:10.3390/children4050042

Genetic Testing among Children in a Complex Care Program

Faculty of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada
Division of Paediatric Medicine, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Child Health Evaluative Studies, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Institute of Health Policy and Management and Evaluation, University of Toronto, Toronto, ON M5T 3M6, Canada
Department of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada
Program in Genetics and Genomic Biology, Hospital for Sick Children, Toronto, ON M5G 1X8, Canada
Author to whom correspondence should be addressed.
Academic Editor: David E. Hall
Received: 28 February 2017 / Revised: 20 April 2017 / Accepted: 16 May 2017 / Published: 22 May 2017
(This article belongs to the Special Issue Children with Complex Health Care Needs)
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Little is known about the pattern of genetic testing and frequency of genetic diagnoses among children enrolled in structured complex care programs (CCPs). Such information may inform the suitability of emerging genome diagnostics for this population. The objectives were to describe the proportion of children with undiagnosed genetic conditions despite genetic testing and measure the testing period, types and costs of genetic tests used. A retrospective analysis of 420 children enrolled in Toronto’s Hospital for Sick Children’s CCP from January 2010 until June 2014 was conducted. Among those who underwent genetic testing (n = 319; 76%), a random sample of 20% (n = 63) was further analyzed. A genetic diagnosis was confirmed in 48% of those who underwent testing. Those with no genetic diagnosis underwent significantly more genetic tests than those with a confirmed genetic diagnosis [median interquartile range (IQR): six tests (4–9) vs. three tests (2–4), p = 0.002], more sequence-level tests and a longer, more expensive testing period than those with a genetic diagnosis [median (IQR): length of testing period: 4.12 years (1.73–8.42) vs. 0.35 years (0.12–3.04), p < 0.001; genetic testing costs C$8496 ($4399–$12,480) vs. C$2614 ($1605–$4080), p < 0.001]. A genetic diagnosis was not established for 52% of children. Integrating genome-wide sequencing into clinical care may improve diagnostic efficiency and yield in this population. View Full-Text
Keywords: children with medical complexity; complex care; genetic testing; health care utilization children with medical complexity; complex care; genetic testing; health care utilization

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Oei, K.; Hayeems, R.Z.; Ungar, W.J.; Cohn, R.D.; Cohen, E. Genetic Testing among Children in a Complex Care Program. Children 2017, 4, 42.

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