Sequencing Our Future: Institute of Genetics Strategic Plan 2022-2027
Introduction

• Executive Summary

  The CIHR Institute of Genetics seeks to enable and empower researchers, healthcare providers, patients, policymakers, and the public to use genetics, genomics, and the numerous new ‘omics’ technologies to deliver better health and healthcare outcomes at a better value. We will deliver this by working to integrate research findings and their transition to care across all four CIHR research pillars: biomedical; clinical; health system services; and population health. The Institute of Genetics has adopted a “bedside to bench to bedside” approach to allow healthcare needs to inform research, and in turn, to integrate research findings into healthcare. This is meant to deliver a major goal of the Institute of Genetics: for genomics to enable the delivery of a learning health system that is continuously improving through increased knowledge creation and integration. Four major themes of commitment will be employed to deliver on this ambition.

  Commitment A: Enabling Genomic Medicine

  Genomic medicine, the analysis of the entirety of a person’s gene set to determine what keeps a specific individual healthy and what contributes to making them sick, is increasingly being incorporated into clinical care. Ongoing research into genomics, and multiple other ‘omics’, (the analysis of an organism at a specific molecular level. E.g., transcriptomics covers the study of RNA transcripts; proteomics refers to the study of proteins, etc.) is providing the necessary information to inform why a person presents with a specific disease, with inherited disease and cancer currently at the forefront of this evolution. We are also on the verge of determining a person’s predisposition to diseases – such as heart disease, stroke, diabetes, mental health conditions – that could affect their health in the near or long-term future. Other applications of genomic medicine include anticipating adverse drug events based on a person’s specific genome, as well as using genomics to inform public health on infectious disease; SARS-CoV-2 tracking being an excellent example. The Institute of Genetics is committed to improving the health of people living in Canada by promoting and contributing to a learning health system, whereby patient health informs genomic research, which in turn informs healthcare.

  Commitment B: Improving Genetic Disease Diagnosis and Therapies

  Rare disease constitutes an under-appreciated global health issue. Rare diseases are actually not rare at all: 1 in 25 children born worldwide has a rare disease, and half of these children will not reach adulthood. Estimates are that 1 in 3 pediatric hospital beds in Canada is occupied by a child with a rare disease. Importantly, 85% of rare diseases are inherited, meaning they have a genetic origin. The genetic origin of most rare disease has enabled their identification and rapid diagnosis as the cost of sequencing human genomes has precipitously dropped over the past decade. It is now clear that inherited disease is a major cause of mortality and morbidity for many children. Unfortunately, children with a rare disease are not accounted for by the coding systems used in healthcare and hospitals. As such, it is very difficult to determine the necessary resources to enable the best level of care, research, and socioeconomic support for patients with a rare disease and their families if the costs, both direct and indirect, cannot be determined. The Institute of Genetics is determined to account for these kids, because if they are not counted, they do not count. Beyond support for diagnosis and care, we are committed to finding a path forward to enable accessible and affordable therapies for children with rare disease. Sadly, 95% of rare diseases do not have a treatment, and although some treatments are incredibly affordable (e.g. changes in nutrition), some are very high-cost therapies – as high as a single-dose gene therapy priced at over $2 million per child. We will leverage previous Institute of Genetics funding that connected clinicians with rare disease researchers to pioneer an open-science model to develop therapies for children with rare-disease that are affordable, and hence accessible to all.

  Beyond rare disease, genetic predisposition for many chronic diseases (e.g. heart disease, diabetes, cancer, etc.) is becoming clearer as more genomes are sequenced and other omics technologies are overlaid. We will soon be in a position to accurately predict predisposition to a disease prior to its onset. This bridging of science with the clinic will result in yet another important tool in the toolkit of clinicians. This enables clinicians to inform patients of potential disease prior to onset to better monitor for disease risk, and for patients to make lifestyle changes to delay or prevent onset of disease.

  Commitment C: Embracing Diversity, Inclusion, and Indigenous Rights

  There is a bias in current genomic databases in Canada and around the world as the overwhelming majority of genomes and associated health data are from people of European descent. The Institute of Genetics is committed to increasing equity, diversity, and inclusion, and recognizing the role of Indigenous rights. This includes defining a responsible approach to include Indigenous Peoples (First Nations, Métis, and Inuit) who wish to include genomic medicine as part of health research and care in a manner that is purpose-oriented, and reflects the crucial role of data in advancing innovation, governance, and self-determination. Enabling genomic research and medicine requires a set of representative genomes from the various ancestries and diverse communities within Canada to accurately reflect any meaningful changes that could affect one’s health status or predisposition to disease. This representation extends to making Canada an attractive destination for clinical trials. Data linkages that include genomics and healthcare data that capture a large and diverse population are much more useful when determining a drug’s efficacy and safety. Without this knowledge, genomics and drug responses will only reflect the biased population currently captured in our genome libraries, which currently do not reflect Canada’s rich diversity. The Institute of Genetics is committed to ensuring that the diversity of Canada is captured in genomics and other ‘omics’ research such that all people can benefit from advances in genomics, regardless of ancestry.

  Commitment D: Strengthening the Community

  To implement genomic medicine in clinical pathways will require a healthcare workforce versed in genomic knowledge and literacy. Capacity building in the education of clinicians and trainees will be important to ensure genomic medicine is implemented appropriately. There is also an urgent need to increase access to genetic counsellors to better integrate genetic counselling into research and care. Health professionals need to be able to assess who would best benefit from genomic medicine and how to report genomic results. Training will be supported by the Institute of Genetics to ensure that Canadian healthcare providers have the required level of genomic literacy to enable genomic medicine.

  Beyond the clinic, a major bottleneck in our implementation of genomic research into better care is the ability to properly analyze the wealth of genomic data that is being generated. These large data sets are growing at a near logarithmic rate and there is a paucity of computational personnel that can apply their expertise to the healthcare setting. Capacity building of a diverse computational biology workforce is an essential step to translate the knowledge of our genomes to the betterment of health for all.

  Genetic and genomic literacy contributes to public attitudes, interest, and participation in genomic research, ultimately determining the impacts of genomic medicine. Increasing public genomic literacy is a major commitment of the Institute of Genetics. Beyond knowledge of the role of genomics in healthcare, there are rightful concerns about access to genomic data and if the data can be used to discriminate against individuals. Addressing concerns, and seeking advice from ethicists, patients, and the general population are paramount, and we are committed to ensuring these consultations take place and that concerns are meaningfully addressed with ecosystem partners.

  The Institute of Genetics is committed to enabling a learning health system whereby the needs and care of patients and the population drive genomics research. The knowledge is returned in near real time to healthcare systems to improve the health and wellbeing of people who live in Canada and around the world.

• Message from the Scientific Director

  

  The Institute of Genetics is one of CIHR’s thirteen virtual health research Institutes. Each Institute is headed by a Scientific Director who receives guidance and advice from its Institute Advisory Board. Institute Advisory Boards are composed of representatives of the public, private, and non-profit sectors including the research community, health practitioners, and patient representatives. The Institutes are formally accountable to both the President and Governing Council of CIHR, and through the Minister of Health to Parliament. Ultimately, according to the Canadian Institutes of Health Research Act, the mission of CIHR is “to excel, according to internationally accepted standards of scientific excellence, in the creation of new knowledge and its translation into improved health for those who live in Canada, more effective health services and products and a strengthened Canadian health care system.”

  The purpose of each CIHR Institute is to “support individuals, groups and communities of researchers for the purpose of implementing, within its mandate, the objective of the CIHR”.

  A major role for the Institutes is to forge relationships across disciplines to stimulate integrative, multifaceted research agendas that respond to the health needs of people who live in Canada while adhering to the highest ethical standards. Accelerating the use of health research findings for the benefit of those who live in Canada is another major mandate, with innovative knowledge mobilization strategies being the key to translating research into action.

  The Institute of Genetics’ strategic plan closely aligns with CIHR’s Strategic Plan 2021-31, and is informed by a broad consultation process that included many bilateral conversations, and national and international meetings and workshops that included clinicians and healthcare providers, researchers, and policymakers from all disciplines, as well as patients and members of the general public. We held a far-reaching survey of these groups to learn about genomics research priorities in Canada, and have developed a vision for how the Institute of Genetics can benefit people in Canada and around the world by supporting collaborative research that is driven by patient needs.

  Our core approach involves starting from patients and civil society, and working towards meeting research needs to improve health outcomes, and we look forward to working with researchers, healthcare providers, patients, and the public to foster this true learning health system in Canada. Moving forward, we will identify and monitor performance metrics to assess the outputs, outcomes, and impact of the Institute of Genetics’ investments and partnerships, provide an evidence base to optimize initiatives, strengthen the integration of EDI (equity, diversity, and inclusion) principles, and evaluate our contribution to improving equitable health outcomes for all.

  Sincerely, Chris

  Christopher McMaster, PhD, FCAHS
  Scientific Director
  CIHR Institute of Genetics

• Our Vision, Mandate, Values and Principles

  Our Vision

  To maximize equitable health outcomes for all, driven by world-class, interdisciplinary research in genetics.

  Our Mandate

  To support research in all aspects of genetics, genomics, molecular biosciences, and computational biology, including the development and translation of new knowledge to improve human health. To foster anticipatory, interdisciplinary research to inform ethical, equitable, and effective implementation and impact of evidence-based health policy and practice of genomic technologies. Promote and integrate the lived experiences of patients and families, including patient partnerships, in research endeavors.

  Our Values and Principles

  Scientific Approach Promoting Ethical Research

  • Responsible science
  • Research ethics and research integrity
  • Privacy and protected access to information when relevant
  • Equitable and inclusive participation in research
  • Open science

  Collaboration

  • Promote interdisciplinary translational research that links basic science, ethical, legal, social, economic, policy, health services and implementation research in genetics
  • Strive to foster and sustain partnerships across Canada and worldwide
  • Ensure FAIR (findability, accessibility, interoperability, and reusability) principles for data sharing are employed, encouraged, and valued
  • Implement the San Francisco Declaration on Research Assessment (DORA) which seeks to improve how scholarly outputs are evaluated by acknowledging the importance of data sharing when evaluating research proposals and researchers themselves
  • Promote the adoption of the CARE Principles (collective benefit, authority to control, responsibility, ethics) for Indigenous data governance

  Diversity and Inclusion

  • Ensure all people who live in Canada, regardless of citizenship, ancestry, ability, gender, geographic location, or socioeconomic status, are included and benefit from genetics research and its application to healthcare
  • Include underrepresented populations with proper safeguards in study design and participation to ensure equitable health benefits for all
  • Promote ethical, effective, and equitable access to genetic services, taking equity, diversity, and inclusion into consideration in regard to geographical access, patient communities’ specific needs, and types of diseases

  Capacity Development

  • Continue to support and grow training and capacity building
  • Support researchers at all career stages
  • Address systemic barriers for researchers at all levels
  • Address training needs and diversity of the workforce in genomics and its application to healthcare
  • Promote the introduction and uptake of genetics beyond genetics specialists and to maximize the value obtained from genetic data across medical disciplines

  Engagement

  • Promote engagement and dialogue with the public, patients and our healthcare workforce, placing the patient and the diverse Canadian population at the heart of this journey
  • Promote public trust in science and genetic literacy of the public and healthcare workers through science communication, implementation science, and knowledge mobilization
  • Engage Indigenous communities to guarantee the culturally safe and effective use of genomics in health and healthcare while supporting governance models to ensure self-determination over data access and use for research
  • Contribute to the development and adoption of transparent practices and governance policies in genetics research that promote trust in science
  • Promote expertise in patient partnership and knowledge mobilization

  Quality of Evidence

  • Promote rigorous research on the implementation of genetics and genomics technologies to guide decision-making while optimizing clinical utility and health service along the healthcare delivery continuum
  • Promote rigorous research design that generates high-quality evidence
  • Include premarket stage, clinical trials, and evaluations of technology before implementation
  • Promote the rigorous evaluation of the implementation of genetic and genomic technologies in real-world settings
  • Develop methods to assess process and outcomes along this continuum to inform health policy decisions
  • Co-design/partner on the development of health outcomes/endpoints that are important for patients/users
  • Promote implementation science into health service delivery
• Our Support to CIHR’s Strategic Plan Implementation

  Following a thorough consultation process, and being sensitive to the evolving Canadian social context, CIHR recently launched its 2021-31 Strategic Plan with the aspiration that in 10 years, “Canadian health research will be internationally recognized as inclusive, collaborative, transparent, culturally safe, and focused on real-world impact.” This plan guided the development of the present document, ensuring that the Institute of Genetics’ orientations, while firmly supporting the development of our research community, contribute as optimally as possible to the achievement of CIHR’s overarching goals and objectives. Five priorities supporting those goals have been defined, and each of those guided the elaboration of our orientations.

  • Priority A: Advance Research Excellence in All Its Diversity
  • Priority B: Strengthen Canadian Health Research Capacity
  • Priority C: Accelerate the Self-Determination of Indigenous Peoples in Health Research
  • Priority D: Pursue Health Equity through Research
  • Priority E: Integrate Evidence in Health Decisions

  Integration of these priorities in CIHR Institute of Genetics commitments will be highlighted at the end of the coming sections.

• Next - Commitment A: Enabling Genomic Medicine

Date modified:

2022-05-09