As the cost of genomic sequencing decreases, we are seeing increasing amounts of genomic data becoming available. But to effectively use that data, research and healthcare communities need to agree on common methods for collecting, storing, analyzing, and transferring it. For example, most existing formats for describing genotype information do not include a means to share corresponding phenotypic information and those that do exist are not uniform. The lack of uniformity in genomic databases hinders communication and limits the ability to perform analyses across clinical and research systems.

The Global Alliance for Genomics and Health (GA4GH) was established to create standards and policies for the responsible sharing of genomic and related health data. Headquartered in Toronto, this global alliance has developed Phenopackets, a standard file format for sharing phenotypic information, such as clinical diagnosis, age of onset, results from lab tests, and disease severity. The Phenopackets standard facilitates communication by creating an ecosystem of interoperable tools and resources that can use phenotypic data with fewer barriers.

In 2020, GA4GH began working with SCC to navigate the international standardization network and have the Phenopackets standard recognized by the ISO. SCC played a critical role in helping GA4GH to have their standard accepted as a new work item by providing guidance, supporting strategies and plans, and reaching out to national member bodies to raise awareness and generate support. ISO/DIS 4454 Genomics informatics – Phenopackets: A format for phenotypic data exchange is now a published standard ensuring genomic data is more accessible here in Canada and around the world.