Health Services, Policy, and GE3LS Research Workshop Report Summary

April 2–4, 2025 Virtual Meeting

Overview

Over three half-days in April 2025, the Canadian Institutes of Health Research Institute of Genetics (CIHR-IG) hosted a virtual workshop for the Genomics and its Ethical, Environmental, Economic, Legal and Social Implications (GE3LS) research community following consultations with its GE3LS Research Priority and Planning Committee (PPC). The goal of the workshop was to identify emerging research priorities and knowledge gaps in the field, ultimately contributing to guiding decision-making and practice and informing future research needs for funding agencies to consider.

The workshop provided a space to foster exchanges and build connections among 79 participants including researchers, patient partners, healthcare practitioners, trainees, decision makers, and research funders.

Plenary sessions set the stage for discussions around three themes:

  • Integrating Genomics into Healthcare
  • Ethics and Policy in Genomics
  • Evaluation and Health Technology Assessment in Genomics

Participants then worked in thematic groups to identify research priorities, followed by a final session where these priorities were shared and collectively refined.

The research priorities identified in the workshop are described below and highlight ways to advance equitable, effective, and sustainable research in genomics and its integration in healthcare to improve outcomes for patients.

Theme 1 priorities:
Integrating genomics into healthcare

  1. Explore, develop and evaluate new models of genetic service delivery in practice
    1. Evaluate new models of genetic service delivery and assess system-wide impacts on patient outcomes, health professionals’ workload, and other resources including budgetary implications, that fit within the workflow of the Canadian healthcare system.
    2. Equip healthcare practitioners with tools and training to effectively communicate about genomics and care for people affected by genetic conditions.
    3. Embed genomics into health professionals’ education and promote workforce learning and development.
    4. Inform policy and regulatory frameworks to support sustainable workforce integration and oversight.
  2. Promote research into equitable and sustainable use of genomic data and implementation of genomics in clinical practice and its outcomes and assess the role of digital tools in informed consent, education, and use of genetic testing and services
    1. Develop and implement strategies to address diverse needs and systemic barriers to knowledge translation and engagement with end users including patients, caregivers/families, and healthcare practitioners.
    2. Design and evaluate care models that incorporate digital tools and electronic medical record integration, emphasizing the need for interoperability and including the appropriate use of artificial intelligence (AI).
    3. Identify meaningful outcomes and comparators for evaluating new care models, implementation strategies and digital tools. Conduct cost-effectiveness analyses and implementation studies to inform/enable their deployment.
  3. Centre patients’ expertise to improve equitable access to genomics-informed care
    1. Identify and address disparities in access to genomic services (i.e., genetic counselling and longer-term psychological support for patients and families) to improve continuity of care and patient experience, especially in underserved, rural and remote areas and populations.
    2. Partner with patients, caregivers, and communities in co-designing educational materials, tools, and care pathways. Conduct research and co-develop policies that promote equity, strive for diverse and equitable representation, and are reflective of patient and caregiver/family priorities.
    3. Reduce systemic burdens on patients and caregivers that requires them to be advocates.

Theme 2 priorities:
Ethics and policy in genomics

  1. Advance responsible research into emerging technologies like gene therapies, RNA therapeutics, and genome editing to position Canada as a global leader in genomic medicine
    1. Address the need for availability and access to quality genomics and health data to ensure a sustainable research future in genomics. Strong GE3LS expertise in data governance will be needed to ensure ethical and effective policy and practice across the data lifecycle. Designing innovative policies to integrate and streamline existing data infrastructure will also be paramount to ensure sustainability of Canadian data infrastructures.
    2. Reevaluate established regulatory and safety policies and practices for new treatments and devices as new technologies advance and new possibilities for data usage emerge. Concerns about dual-use genetic data and cyber-biosecurity are good examples, as is the need to better regulate risk prediction models and the use of polygenic risk scores.
    3. Consider the GE3LS implications for the use of genomics in population health (e.g., population and newborn screening programs, RNA vaccines).
  2. Learn from patient experiences in genomics research by establishing and furthering best practices and developing new tools for patients, their families, and communities
    1. Promote public understanding of genomics from which to develop governance strategies based on public values.
    2. Advance research and policy work concerning equitable access to genetic testing, as well as the ethical use and return of genetic information to patients and research participants. This should include tackling the challenge of how polygenic risk scores can and ought to be used and made available.
    3. Work to prevent genetic discrimination and stigmatization in research and policy. Patient partners must be further engaged in research related to the prevention of group harms, including understanding how those harms can emerge and how to avoid, minimize, or address them.
  3. Encourage community reflection on the future of GE3LS research (i.e., multidisciplinary scholarship where social scientists work in collaboration with genomics researchers/projects)
    1. Continue to promote GE3LS interdisciplinary research, as genomics innovations benefit from social science insights which lead to substantial research, structural and policy change.
    2. Explore the ways GE3LS research can evolve to keep pace with scientific progress in Canada and the world. For example, identify other issues where a GE3LS interdisciplinary approach could benefit health research (e.g., AI).
    3. Reflect on the strengths and weaknesses of GE3LS research and investigate how to develop innovative partnerships and research strategies to improve this field of research going forward.

Theme 3 Priorities:
Evaluation and health technology assessment in genomics

  1. Establish and maintain meaningful partnerships for research about genetics and genomics that is inclusive of all knowledge users including patients, caregivers, people with lived experience, advocacy groups, healthcare practitioners, decision makers, and administrative agencies
    1. Provide time and space in addition to funding for partnership development (i.e., flexible time frames for use of funds).
    2. Develop or expand existing infrastructure to facilitate partnerships (e.g., inventories of research expertise or ‘matchmaking’ services to connect patients and advocates with researchers) and create reduced-barrier opportunities for engagement and exchange on potential research.
    3. Support capacity building for patient partnership in research by working with patient partners to identify barriers and develop strategies to address them.
    4. Create collaborative opportunities to advance patient partnered research and inform policy decisions.
  2. Develop sustainable rare disease registries and standardize data across Canada to improve the ability to perform health technology assessments (HTAs) and identify patients with undiagnosed and rare genetic conditions
    1. Support sustainable infrastructure for high-quality rare disease registries (including use of ORPHAcodes) that can be used in research and encourage their long-term use by emphasizing the need for a standard set of variables.
    2. Establish models and tools to access and link data from multiple sources and jurisdictions while addressing the ethical and legal implications of data access and linkage for genetic disorders. For example, linking provincial claims databases would facilitate economic evaluations in rare diseases.
    3. Fund patient partnered research about models of identifying and maintaining longitudinal contact with individuals with rare diseases.
  3. Create common sets of evaluation frameworks, definitions, and outcome measures for genetic conditions, ensuring they are inclusive and meaningful to patients and their families, to better perform HTA and ensure sustainability of research infrastructure over time
    1. Involve key partners (including patient partners) in the development of standard value definitions and outcome measures fit for use in HTA (i.e., ‘HTA ready’) to measure the impact of genetic diseases on those with lived experience and the lifelong impact of related interventions.
    2. Fund research to evaluate models of sustainability and feasibility of long-term approaches to research on genetic diseases.
    3. Develop models and approaches to repeat HTA and economic analyses over time to account for relevant changes (cost, indications, etc.), including a shift of focus to evaluating pathways of care rather than a single intervention.
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