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Genetic Testing among Children in a Complex Care Program

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 o...

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Autores principales: Oei, Krista, Hayeems, Robin Z., Ungar, Wendy J., Cohn, Ronald D., Cohen, Eyal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448000/
https://www.ncbi.nlm.nih.gov/pubmed/28531152
http://dx.doi.org/10.3390/children4050042
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author Oei, Krista
Hayeems, Robin Z.
Ungar, Wendy J.
Cohn, Ronald D.
Cohen, Eyal
author_facet Oei, Krista
Hayeems, Robin Z.
Ungar, Wendy J.
Cohn, Ronald D.
Cohen, Eyal
author_sort Oei, Krista
collection PubMed
description 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.
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spelling pubmed-54480002017-05-30 Genetic Testing among Children in a Complex Care Program Oei, Krista Hayeems, Robin Z. Ungar, Wendy J. Cohn, Ronald D. Cohen, Eyal Children (Basel) Article 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. MDPI 2017-05-22 /pmc/articles/PMC5448000/ /pubmed/28531152 http://dx.doi.org/10.3390/children4050042 Text en © 2017 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Oei, Krista
Hayeems, Robin Z.
Ungar, Wendy J.
Cohn, Ronald D.
Cohen, Eyal
Genetic Testing among Children in a Complex Care Program
title Genetic Testing among Children in a Complex Care Program
title_full Genetic Testing among Children in a Complex Care Program
title_fullStr Genetic Testing among Children in a Complex Care Program
title_full_unstemmed Genetic Testing among Children in a Complex Care Program
title_short Genetic Testing among Children in a Complex Care Program
title_sort genetic testing among children in a complex care program
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5448000/
https://www.ncbi.nlm.nih.gov/pubmed/28531152
http://dx.doi.org/10.3390/children4050042
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