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Article History

Accepted: 1 December 2024

First Online: 30 December 2024

Declarations

:

: This work was funded by Genome Canada and the Ontario Genomics Institute (OGI-147), the Canadian Institutes of Health Research, Ontario Research Fund, Genome Alberta, Genome British Columbia, Genome Quebec, the Children’s Hospital of Eastern Ontario Foundation, a Genome Canada/Genome Alberta GAPP Grant, and the One Child Every Child initiative. The One Child Every Child initiative is supported by a grant from the Canada First Research Excellence Fund. Kym M Boycott is supported by a Canada Research Chair in Rare Disease Precision Health (Tier 1). Robin Z Hayeems is supported by the Canada Research Chair in Genomics and Health Policy (Tier 2). Deborah A Marshall is supported by the Svare Chair for Value and Socioeconomic Impact in Child Health Research.

: At the time of publication, KD was an employee of GlaxoSmithKline (GSK), but GSK was not involved in this research in any way, nor did this author contribute to this research in the capacity of his role within GSK. DAM, FPB, KMB, KF, KVM, RH, RML, TH, TAS, TT, and VV do not have any conflict of interest related to this work.

: All data supporting this study have been collected using the Care Pathway data collection surveys in Genomics4RD, the official database for Care4Rare Canada, and are available upon controlled-access request and approval.

: The code is available upon controlled-access request and approval from the first and the corresponding authors.

: The research protocol for CareRare SOLVE was approved by Clinical Trials Ontario (CTO-1577), the provincial platform responsible for approving clinical trials and observational studies involving two or more academic or healthcare institutions in Ontario, and by research ethics boards at the University of Calgary (REB18-0744 and REB20-1449) and University of Alberta (Pro00091561). Informed consent was obtained from all individual participants (legal guardians for participants aged <18 years) enrolled in the Care4Rare-SOLVE study. The informed consent form included information about the publication of results from the study, which will be published in aggregate.

: Concept and design (DAM, FPB, KD, KMB, KVM, RH, RML, TAS, TH, TT), Acquisition of data (DAM, FPB, KMB, KF, RH, RML, TH, VV), Analysis (DAM, KD, TAS, TT) and interpretation of data (DAM, KD, KVM, RH, TAS, TT), Drafting of the manuscript (DAM, KD, TT), Critical revision of the paper for important intellectual content (DAM, FPB, KD, KMB, KVM, RH, RML, TAS, TH, TT), Obtaining funding (DAM, FPB, KMB, RH), Administrative, Technical, or Logistic support (DAM, KF, RH, TAS, VV), Supervision (DAM, KMB); All authors have read and approved the final version to be published.