Gene42 Launches Rare Disease Platform Genomics4RD

As technology moves forward in the field of healthcare, researchers and engineers will need to access as much data as possible in order to understand and harness modern advances in medtech.

A new platform is looking to make information regarding rare diseases much more accessible in a bid to increase awareness and effective treatment around Canada. Care4Rare has launched Genomics4RD, a national research platform developed by the Toronto-based company Gene42. The launch coincides with Rare Disease Day, which aims to bring awareness to the fact that over one million Canadians are affected by one of over 7,000 different rare genetic diseases—only one per cent of which are currently curable.

The Care4Rare project is funded by Genome Canada and focuses on “harnessing multi-omics to deliver innovative diagnostic care for rare genetic diseases in Canada.” The goal for this platform is to find the genetic causes of currently unsolved diseases and make genomic testing available to as many Canadians as possible.

Before the project began, data from over 4,000 Canadian families affected by rare disease was scattered across different sites and datasets, with the majority of those cases being unsolved. Joint analysis was increasingly difficult as different researchers and hospitals used different reporting methods, leading to confusion and redundancy surrounding the treatment and diagnosis process.

“At its core, Genomics4RD is built to help researchers collect and share structured data wherever possible, including allowing doctors to send de-identified data directly from hospital health systems,” said Dr. Orion Buske, CEO of Gene42. “The patient’s symptoms, their family history, their genetics, and their data sharing preferences are all collected in standard, computable formats making it easier for researchers to search, filter, and analyze the data.”

Gene42 built the platform, relying on its proprietary PhenoTips software that allows the company to securely store information relating to phenotypic and genotypic data. Care4rare licensed this platform and used it to analyze health records form thousands of participants in addition to merging isolated datasets from around the country.

Genomics4RD is the first-ever platform in Canada that enables researchers to collectively identify the genetic causes of rare diseases, and even contribute new instances of cases through Gene42’s software. As the platform is used and built out with more information, doctors can also determine outcomes and create a precision approach to tackling rare disease. The data lake itself contains both structured and unstructured data, including everything from family histories and 2D and 3D facial imaging to -omics data such as DNA sequences.

Researchers have different levels of access to data depending on their identity and proposed use with the findings. The three levels are open (public access), registered (members of the consortium itself who can access individual-level variants), and controlled (vetted research projects will full access).

“The Genomics4RD database will provide a powerful resource for researchers to better understand rare diseases and decrease the time to diagnosis for families across Canada and around the world”, said Dr. Kym Boycott, a clinician-scientist at CHEO and lead of the Care4Rare program.

Early last year, it was announced that Gene42 would be working on Genomics4RD, which itself is funded partly through a $12.9 million Large-Scale Applied Research Project grant. Gene42 worked for free to complete the data repository side of the project.