Genetic Testing among Children in a Complex Care Program
AbstractLittle 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
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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.
Oei K, Hayeems RZ, Ungar WJ, Cohn RD, Cohen E. Genetic Testing among Children in a Complex Care Program. Children. 2017; 4(5):42.Chicago/Turabian Style
Oei, Krista; Hayeems, Robin Z.; Ungar, Wendy J.; Cohn, Ronald D.; Cohen, Eyal. 2017. "Genetic Testing among Children in a Complex Care Program." Children 4, no. 5: 42.
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