Jul 2026· Canadian Journal of Health Technologies· Vol 6· 0 citations
Abstract
Genomic datasets exist in Canada; however, many are inaccessible because they are held by individual researchers on institutional servers or by third-party sequencing companies abroad.
As a result, the genomic evidence needed to evaluate new therapies is often difficult to find.
Genome Canada is working to improve data accessibility through the Canadian Precision Health Initiative and the Pan-Canadian Genome Library.
The Atlantic Cancer Consortium and Atlantic PATH have also built federated models with formal access processes.
The founder effect occurs when an isolated population inherits the genetic and phenotypic traits of a small group of founders, leading to differences from the larger surrounding population over time. Recessive genes and genetic illness can be more prevalent in these groups due to the smaller gene pools.
Atlantic Canada is home to multiple populations shaped by founder effects, such as those in Newfoundland and Labrador and the Acadian populations in Nova Scotia and New Brunswick. However, the availability of genomic datasets and past genetic research has not yet been mapped.
This project aimed to identify and summarize the genomic datasets available for populations in Atlantic Canada, with particular attention to the FAIR (findable, accessible, interoperable, and reusable) principles.
Searches of the literature and communications with researchers indicate there are rich genomic data collected that have been used for secondary research (reusable), which are not necessarily easily findable, accessible, or interoperable because they are held by individual researchers not a centralized repository.
Ted McDonald, Rachelle Entz, Laurence Lambert-Côté et al.· Canadian Journal of Health T...· 0 citations
With sustained investment and a national vision, Canada has the potential to create a more integrated and effective system for managing rare diseases. In the first article in this series, we argued that Canada needs to move toward a genomics-informed learning health system for rare disease (RD); one in which diagnosis, care, discovery, and patient outcomes are connected in a continuous cycle of learning. Canada possesses many of the foundational components. Across the country, clinicians, clinician-scientists, and researchers have developed innovative programs and infrastructure. However, these initiatives are too often supported through short-term funding cycles and limited budgets that are insufficient to sustain, scale, or integrate successful programs over the long term. At the same time, funding structures often prioritize new initiatives over the expansion and coordination of existing ones, contributing to duplication of effort and a tendency to reinvent the wheel.
K. Boycott, E. Price, M. Osmond et al.· Open Access Government· 0 citations
There is consensus that patients' perspectives should be considered in decisions about health data. Deliberative forums (DFs) have become a common tool for patient involvement (PI) in health policy development. However, translating deliberative outcomes into policy decisions poses challenges. There has recently been interest in conducting DFs online, yet few online DFs have been evaluated for quality or policy impact. We evaluated a series of online DFs that were conducted to explore how patients can be involved in the governance of a genomic data archive (GDA), the German Human Genome‐Phenome Archive (GHGA).
Apondo Eric, Schickhardt Christoph, Andrea Züger et al.· Health Expectations· 0 citations
Background The collection and aggregation of individual genomic data into large-scale repositories is now a common approach in biomedical research. Funding agencies increasingly require researchers to include data sharing plans in new project proposals, unless there are strong, clearly justified reasons. While sharing human genomic data promotes scientific discovery, innovation, and transparency, it also raises significant ethical, legal, and social concerns (ELSI). This review collated evidence on data sharing practices, context, facilitators and barriers in collaborative human genomic research in low and middle income countries (LMICs). Methods The systematic review was done following a priori criteria. A protocol was registered in PROSPERO (CRD42022297984) and published with PLOS ONE journal. The articles were imported into EndNote software, duplicates were removed and the remaining articles were then transferred to Epi-Reviewer software. Independent reviewers (DES, LN; GK, DES) screened the articles for inclusion and extracted data in pairs. Any disagreements between the reviewers were resolved through discussion and consensus. The JBI checklist was used for assessing quality of the included articles and studies were classified as good, fair or poor. The assessment yielded overall ratings of good which demonstrated sound methodological rigor. We did not exclude any study from our analysis. Seven distinct categories emerged from the narrative synthesis. Results A total of 2061 articles were identified from the initial search (PubMed, 594; Web of Science 340; Google scholar, 1127; and 30 from Bibliography search). The review included 11 articles and explored the context and the ELSI of sharing genomic data. The results included the practice of sharing data collaboratively, the ethical issues identified included: informed consent, data misuse and mistrust, inequity, the social dimensions included stigma and discrimination and the legal issues include data ownership and data protection. The barriers included mistrust and inequity in collaborative research and over regulation. Conclusion Overall, trust and comprehensive cultural consenting process are critical during data sharing. Emphasis should be placed on striking a balance between protecting rights of research participants, the interests of researchers from LMICs and promoting scientific research. Policymakers should establish ethical and regulatory frameworks that emphasize equity and fairness in collaborative relationships.
Deborah Ekusai-Sebatta, M. Ocan, Shenuka Singh et al.· PLoS ONE· 0 citations
The current legal framework is analyzed, the existing need for legislative action is identified, the existing need for legislative action is identified and a practice-oriented regulatory proposal is developed.
The Ensembl Genome Browser has supported global genomics research for 25+ years, integrating data on genes, variants, and regulation across thousands of species. This workshop introduces the new Ensembl Data Platform (https://beta.ensembl.org/), featuring improved visualisation, a modern interface, and access to key resources like HPRC and Darwin Tree of Life. Participants will explore tools, gain hands-on experience, and learn how to apply Ensembl data in their research.
