{"id":2319,"date":"2023-07-31T20:37:55","date_gmt":"2023-07-31T20:37:55","guid":{"rendered":"https:\/\/lab.research.sickkids.ca\/hayeems\/?page_id=2319"},"modified":"2024-07-08T15:35:02","modified_gmt":"2024-07-08T15:35:02","slug":"system-outcomes","status":"publish","type":"page","link":"https:\/\/lab.research.sickkids.ca\/hayeems\/system-outcomes\/","title":{"rendered":"System Outcomes"},"content":{"rendered":"

System Outcomes Projects<\/h1><\/div>
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Characterizing the value<\/span> <\/span>of genomic diagnostic and screening technologies<\/span> from the system perspective<\/span> is critical to ensure their <\/span>appropriate<\/span> and sustainable use. Along with clinicians, laboratory scientists, health economists, implementation scientists, patient partners, and policy stakeholders,<\/span> we have several projects underway<\/span> to design new models of care and characterize their system impacts.<\/span>\u202f<\/span><\/span><\/p>\n

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GSO - Secondary Finding Impact Study (SFIS)<\/h2><\/div>
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Motivated to establish a high-quality, timely, and cost-effective genome sequencing service for Ontarians with rare diseases, <\/span>Genome-wide Sequencing Ontario (GSO)<\/a><\/span> developed an innovative, harmonized, multi-institutional model for implementing and accessing the performance of exome and genome sequencing.<\/span>\u00a0<\/span><\/p>\n

By developing a centralized approach for sequencing and bioinformatic analysis, coupled with a distributed, institution-based mechanism for variant interpretation and reporting, GSO produces process and outcome data that will inform provincial and cross-provincial policy related to long-term organization, delivery, and reimbursement of genome diagnostics.<\/span>\u00a0<\/span><\/p>\n

Beyond the diagnosis <\/span>of rare diseases, exome and genome sequencing can identify secondary findings (SF). SF are genetic variants that are unrelated to the indication for testing but are associated with medically actionable health risks. In partnership with GSO and key stakeholders, the SFIS aims to identify and describe the impacts of SF on patients, families, providers, and the health care system. This study will also look at the laboratory and health system costs associated with identifying, reporting, and following up on SF by leveraging GSO\u2019s sequencing and result-reporting infrastructure. Findings from this study will help inform clinical practice and policy decisions around the use of genome diagnostics for rare diseases.<\/span>\u00a0<\/span><\/p>\n<\/div><\/div><\/div>

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GSO - Genome-wide sequencing Readiness and Implementation in Practice (GRIP)<\/h2><\/div>
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Currently, access to GSO is limited to patients assessed by a medical geneticist and\/or a genetic counsellor. However, there are long wait times to access genetics providers and many families who are eligible for genome-wide sequencing (GWS) are cared for by other types of providers (developmental pediatricians, neurologists, etc.).<\/span>\u00a0<\/span><\/p>\n

\u201cMainstreaming\u201d<\/b><\/span> has emerged to improve access to genetic testing by enabling non-genetics providers to order genetic testing themselves, saving families the step of waiting for a referral to genetics.\u00a0<\/span>\u00a0<\/span><\/p>\n

Using a mixed methods hybrid implementation-effectiveness design and in partnership with <\/span>CHILD-BRIGHT Network<\/span><\/span><\/a>, the GRIP Study will:<\/span>\u00a0<\/span><\/p>\n