Description:

As genetic testing options continue to expand in complexity and costs, determining the full value of these technologies requires a set of metrics that extends beyond laboratory-based performance. This session will present novel, validated measures of personal and clinical utility that can be used to generate evidence for policymakers, payors, and healthcare decision-makers committed to providing value-based genomic medicine. Aligned with measurement science best practices and using multi-step processes of item generation, item reduction, and validity testing across seven Canadian sites, the Patient-reported Genetic testing Utility InDEx (P-GUIDE) will be presented as a standardized approach for gathering patient preference data in five distinct clinical settings (i.e. prenatal care, outpatient genetics, precision oncology, pharmacogenomics, adolescent medicine). Complementary to P-GUIDE and using international expert-driven consensus panels and multi-site validity testing, the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) will be presented as an additional standardized approach for gathering clinical utility data in four distinct clinical settings (i.e. prenatal care, critical care, outpatient genetics, genomic newborn screening). As a robust measurement system for quantifying the personal and clinical utility of genetic testing across the lifespan and across screening and diagnostic testing applications, these tools fill a critical evidentiary gap in genomic medicine.

Objectives

At the end of the session, participants will be able to:

  • To describe a comprehensive, multi-dimensional framework for outcome measurement in genomic medicine and highlight its critical role in health technology assessment and policy decision making.
  • To summarize measurement science best practices for the development and validation of robust outcome measures.
  • To examine the common and distinct elements of utility across patient perspectives in diverse clinical settings and demonstrate how they are used in assessing value and guiding patient-centred care.
  • To examine the common and distinct elements of utility across healthcare provider perspectives in diverse clinical settings and demonstrate how they are used in assessing value and guiding patient-centred care.

Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists, Medical Lab Technologists, researchers; government funding and policy-decision-makers
CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Leader, Health Advocate, Scholar, Professional

Speaker: Dr. Robin Z. Hayeems, ScM, PhD Senior Scientist, The Hospital for Sick Children Research Institute & Associate Professor, University of Toronto
Dr. Wendy J. Ungar, MSc, PhD Senior Scientist, The Hospital for Sick Children Research Institute & Professor, University of Toronto
Dr. Christine Armour, MSc, MD Clinical Geneticist, Children’s Hospital of Eastern Ontario
Dr. Salma Shickh, MS, PhD Postdoctoral Fellow, The Hospital for Sick Children

Event Timeslots (1)

AM Breakout Session 3
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KC 301 - Dr. Robin Hayeems, Dr. Christine Armour, Dr. Wendy Ungar, Dr. Salma Shickh