It was at a hotel in Newport Beach, California in 2016 that members of the patient advocacy organization Global Genes’ scientific and medical advisory boards began a brainstorming session to talk about big ideas that could be transformative to rare disease diagnosis and treatment.
The discussion soon turned to the need for reliable technologies patients could use to collect data. Researchers in the room discussed the power of looking across diseases and one talked about his vision of having all rare disease data in one place to make such investigations possible.
One of the things that became clear during the discussion was that data challenges were holding back progress in rare disease. Researchers needed data that didn’t exist. That was the case for most of the rare diseases, especially the ones with smaller patient populations. When data did exist, it was either in a format that couldn’t be used by researchers or held behind an institutional wall where most researchers could not gain access to it.
Global Genes had been hearing from patient advocacy organizations who were trying to address the absence of data about their diseases. They had heard from FDA officials, researchers, and drug developers about how critical it is for them to gather data about patients to bring about advances, but when they tried to do it, they soon found it took a lot of time, energy, and money to do so.
When patient advocates sought to collect data, they would later discover, when they provided information to researchers, it would be in a format that researchers couldn’t use, or they failed to gather the data under the oversight of an institutional review board and they would be forced to start over. Those who turned to free platforms would later discover they didn’t own their data and that it may have been used without their knowledge. If they tried to move their data to a platform where they could own and control it, a large investment would be necessary.
That first discussion in Newport Beach gave rise to executive sessions where a mix of individuals from Global Genes’ boards and like-minded individuals from organizations that touched on different aspects of the rare disease world came together. They engaged in deeper discussions about what was needed to tackle the problem. By the end of 2018, it was clear that a free-standing non-profit would be needed to address the ambitious vision of the group and RARE-X was born.
“We have so much of the ecosystem that’s contributing their time, talent, and treasure to think about what a platform approach like this can do for the world of rare disease,” said Nicole Boice, co-founder of RARE-X. “To make RARE-X possible requires a lot of coordination and collaboration between organizations and individuals operating under differing business models, goals, and objectives. They are unified, though, under an umbrella belief on the need for what RARE-X is doing.”
RARE-X will streamline and harmonize data gathering and ontology across diseases and take the burden off patients to make it easier for them to provide data. It seeks to remove barriers to patient groups by supplying best-in-class technology and support at no charge to enable patients to become owners and stewards of their own data and support an ecosystem of data sharing that could transform the diagnosis and treatment of rare diseases.
The goal is to teach patients to be data owners and data stewards and ensure that their communities are equipped to be active participants in addressing the data needs, with the governance and support for them to be good partners with researchers and biopharma.
“What we’re trying to do is level the playing field across the board, not just for small rare disease organizations, but even for some of those small researchers and small biopharma companies that are just starting,” said Boice. “We are changing the way people collect, house, access, and analyze data.”
Daniel S. Levine