Research Rationale
As genome-wide sequencing and advanced genetic testing technologies continue to evolve and become a routine part of health care, continued funding and implementation of these tests in clinical settings requires a rich body of evidence. We aim to help establish this evidence.
We can think of the different types of evidence required to guide funding and implementation decisions as a “chain of evidence”. This framework shows all domains of evidence are interconnected, and that evidence from one domain lays the groundwork for new domains to be explored. For example, the ability of a test to perform accurately in the laboratory must first be established before domains such as diagnostic thinking (how the test result influences a diagnosis) can be explored.
To learn more about each domain, see the interactive figure below:
Our ability to define and measure these domains of evidence has been limited. While policymakers are interested in understanding the impact of genetic testing on clinical care and decision-making, as well as the personal value of genetic testing from the patient’s perspective, we currently do not have standardized methods to measure these outcomes.
What We Do
To address these gaps, we are developing measurement tools to capture the clinical utility and personal utility of genetic testing. In our work, clinical utility relates to the diagnostic thinking and therapeutic efficacy domains in the chain of evidence and personal utility relates to the patient outcome efficacy domain.
To measure clinical utility, we have developed the Clinician-reported Genetic testing Utility InDEx (C-GUIDE™).
To measure personal utility, we are in the process of developing the Patient-reported Genetic testing Utility InDEx (P-GUIDE™).
While C-GUIDE™ and P-GUIDE™ can be used independently, we aim to develop paired measurement tools to assess the utility of genetic testing in a broad range of clinical settings.
Furthermore, to characterize the value of genomic diagnostic and screening technologies from the system perspective – we conduct various projects to design new models of care and characterize their system impacts.
We are currently accepting students at the MSc, PhD, and Post-doctoral levels. Please contact Dr. Robin Hayeems to hear more about the opportunities we offer!