The All for One Precision Health Partnership is creating a national database for rare diseases
Imagine being very sick, with daily impacts on your wellbeing, family, education and community, but not knowing the cause. This is the experience of many Canadians with a rare genetic disease. Rare genetic diseases affect nearly one million Canadians, and despite extensive clinical testing and investigation, over half of them don’t have a diagnosis.
Over the past four years, clinicians, scientists and researchers in six provinces (British Columbia, Alberta, Manitoba, Ontario, Quebec and Nova Scotia) have been working to evaluate and implement an important clinical genetic test, called genome-wide sequencing (GWS), to help with timely diagnoses for families with rare genetic diseases. The program, called the All for One Precision Health Partnership, began in 2019 and was launched in 2022 with the support of Genome Canada, six regional Genome Centres, and in partnership with provincial governments and end users. Preliminary outcomes show the successful integration of genome-wide sequencing into clinical care can provide a diagnosis for up to 30 per cent of tested families.
The leaders of the six provincial projects are working to the premise that the number of diagnoses, time to diagnosis and equity of access will be improved if diagnostic laboratories providing genome-wide sequencing work together and share data. As part of All for One, a first-of-its-kind national program is being developed to enable secure data sharing between Canadian diagnostic laboratories. This All for One ‘Clinical Genomics Network’ will mean that when a rare disease family receives genome-wide sequencing in one province, their test information may very well help to diagnose a family in another.
The diagnostic laboratories at CHEO and the Hospital for Sick Children (SickKids) are pioneering the sharing of genome-wide sequencing data via the Clinical Genomics Network, contributing data from over 4,000 rare disease patients and family members. This secure data sharing will increase health care providers’ ability to provide answers to families and may decrease their anxious wait for a diagnosis. As more individuals are sequenced and more diagnostic laboratories join the Clinical Genomics Network in the coming months and years, the impact of this network will be amplified across Canada.
“Individually, no single institution or health region can sequence enough people’s DNA to build a comprehensive database to support high-quality interpretation of clinical genome-wide sequencing. This is particularly true for equity-deserving populations who are also underrepresented in current genomic reference datasets. The All for One Precision Health Partnership is changing that and providing a blueprint for other countries around the world.” — Dr. Kym Boycott, All for One data sharing lead and Clinical Geneticist at CHEO, and Senior Scientist at the CHEO Research Institute.
“All For One is a ground-breaking portfolio of projects focused on improving health systems locally and regionally, but also contributing to national data sets to accelerate the quality of care for all Canadians. Coordinating and combining our efforts across hospitals, regions and provinces will ensure all patients across Canada are able to receive world-class, cost-effective care.” — Dr. Rob Annan, President and CEO of Genome Canada.
For more information on the All for One Precision Health Partnership, go to: GenomeCanada.ca/all-for-one.
