Decision makers require evidence of clinical utility to inform policy and funding decisions related to genetic testing. Therefore, we have developed and validated a novel outcome measure to assess the clinical utility of genetic testing from providers’ perspectives. C-GUIDE is designed to capture the clinical utility of a genetic test as it relates to (i) understanding diagnosis and prognosis, (ii) informing medical management, (iii) awareness and actionability of reproductive and health risks for patients and family members, and (iv) patient and family well-being. Evidence generated from this outcome measure will enable novel comparative effectiveness research which in turn, can inform sound policy decisions.
If you are interested in learning more about C-GUIDE or would like to use it in your research, please contact Dr. Robin Hayeems.
Patients are excited by new genomic technologies that can be used to determine the genetic cause of a health problem and risk of future disease. In addition, policymakers are interested in understanding patient values and preferences to make evidence-informed funding decisions. Since standardized ways of measuring the value of genetic testing from a patient’s perspective are limited, we are using a robust measurement science approach to co-design P-GUIDE with patient partners. Once P-GUIDE has been established, it can be used to determine the personal utility of genetic testing in a range of clinical settings. Evidence from these studies will be used to inform patient-centred care, policy decisions and funding recommendations.
Children with medical complexity have at least one chronic condition resulting in high service needs, subspecialist involvement, and medical equipment requirements. Often, a genetic explanation for illness is suspected. While conventional genetic tests have been used in this population for some time, we are interested in understanding the role of genome sequencing as a diagnostic tool for this population and also interested in understanding parents’ perspectives on the value of receiving a genetic diagnosis at various timepoints in their child’s medical journey.
Children with Heart Disease
This qualitative study aims to understand and explore factors that influence parents’ decisions to pursue genome sequencing for their child. Interviews were conducted with parents enrolled in SickKids’ Cardiac Genome Clinic. Findings from this project shed light on the personal and social values of the technology from parents’ perspectives which contribute to the evidence base required for robust health technology assessment.
Care4Rare-SOLVE (C4R-SOLVE) is a pan-Canadian collaboration among clinicians, scientists, and researchers focused on improving the care of individuals with rare disease. In Phase 1 of C4R-SOLVE, we are collecting evidence on the impact of genome sequencing on medical management, its optimal timing, and its associated health system costs from patient cohorts in Ontario and Alberta. This information will provide insight on the diagnostic utility, clinical utility, and cost-consequences of clinical sequencing. Ultimately, we hope this research will inform policy decisions related to the appropriate use of novel genomic technologies for rare disease.
In collaboration with Ted Rogers Centre for Heart Research, this project centres on developing a comprehensive outcome dataset related to the downstream care and cost consequences of genome sequencing for a range of pediatric heart conditions. In addition, and in collaboration with Technology Assessment at Sick Kids, we have completed a study to estimate the cost of trio-based genome sequencing using a bottom-up micro-costing approach, which will facilitate future economic evaluations of genome sequencing in pediatric cardiac patients. Along with TASK, we are also focused on understanding the cascade health service use in families of children with cardiomyopathy and on the implications of cascade testing and screening for pediatric health technology assessment in genomics.
The purpose of this study is to gather longitudinal clinical and genomic data in a registry for patients with genodermatoses, in order to improve the genomic characterization of a range of dermatological condition and to understand the impact of a genetic diagnosis on medical management.
Motivated to establish a high quality, timely, cost effective and equitable genome sequencing service for Ontarians with rare diseases, GSO has developed an innovative, harmonized, multi-institutional model for implementing and assessing the effectiveness of this test. Cases enrolled in the implementation cohort are offered exome sequencing to optimize the delivery of the current standard of care in Ontario. Cases enrolled in the evaluation cohort are randomized to receive exome or genome sequencing to compare the utility, timeliness, and cost-effectiveness of these strategies. GSO has developed centralized approach for sequencing and bioinformatics coupled with a distributed, institution-based mechanism for variant interpretation and reporting. Process and outcome data will be used to inform provincial and cross-provincial policy related to the long-term organization, delivery, and reimbursement of genome diagnostics.
In Canada’s publicly funded health care system where fiscal resources are limited and health insurance plans are decentralized, the implementation of innovative diagnostic tools such as genome sequencing is challenging and haphazard. Using a comparative case study design and informed by an integrated conceptual framework for implementation science, we are identifying factors associated with effective implementation of genome sequencing in Canada and how they shape the clinical practices for rare disease diagnostics.
Newborn Screening (NBS) is a highly successful public health program that screens infants for treatable diseases. Newborn Screening Ontario (NSO) coordinates the province-wide system which screens infants in Ontario by collecting and analyzing dried blood spots in the first days of life. NSO uses biochemical tests as primary “first-tier” tests. Subsequent molecular or complex biochemical testing is performed as “second tier” testing to improve test accuracy. This approach is cost effective and socially acceptable. However, it has limited scalability and generates false positive and inconclusive results. To mitigate these challenges, a next generation sequencing based approach is being developed as “first-tier” testing in some jurisdictions. An understanding of parental preferences about the use of NGS for newborn screening will guide program and policy decisions.
As a relatively new program, Prenatal Screening Ontario (PSO) has a complex governance structure, involving a vast network of health care professionals, laboratories, data systems, and policymakers. This poses a challenge to delivering a high-quality screening program, accessible to all pregnant people in Ontario. This work seeks to:
Understand the barriers and facilitators to achieving a high-quality prenatal screening system in Ontario, with consideration of PSO’s structure, mandate, operations, and vision for quality improvement
Identify models and attributes of success
Generate recommendations and operational solutions for achieving quality that are responsive to evolving policy systems, program goals, and screening technologies
The clinical delivery of genome sequencing is complex and costly, resulting in unequal access, long wait times, workforce burdens and high variability in practice. The COVID-19 pandemic has underscored the importance of developing digital solutions. Together with Dr. Yvonne Bombard at St. Michael’s Hospital, we aim to develop and evaluate a digital navigation platform called The Genetics Navigator. The Navigator is designed to deliver the full spectrum of clinical genetics services to patients throughout the entire genetic testing journey. The Navigator will be developed and evaluated in partnership with end users. It aims to improve genetic service delivery, accessibility, patient experience, and patient outcomes.