Genetic Testing among Children in a Complex Care Program

Children
Krista OeiEyal Cohen

Abstract

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 ($1...Continue Reading

References

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Citations

Sep 23, 2020·JAMA Network Open·Gregory CostainRobin Z Hayeems
Aug 1, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·R Z HayeemsM S Meyn
Sep 30, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christine Michaels-IgbokweDeborah A Marshall
Dec 16, 2020·NPJ Genomic Medicine·Robin Z HayeemsUNKNOWN Medical Genome Initiative

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Methods Mentioned

BETA
exome sequencing
single gene sequencing

Software Mentioned

EUROCAT
SPSS

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