Rewriting the Future with Data

A global pandemic by its very nature would seem to be the antithesis of a rare disease, but the struggles to diagnose, prevent, and treat people infected with the COVID-19 virus around the world has highlighted the essential role data plays in combating disease of any kind.

The lack of reliable data about the virus has left as unknown how many people have contracted the virus, who is most susceptible to suffering serious health consequences, and how deadly it is. We still don’t know the actual transmission rate of the virus. And, we don’t know how many people have been exposed to the virus, recovered, and now have developed immunity to it.

John P.A. Ioannidis, professor of medicine and professor of epidemiology and population health at Stanford University School of Medicine in an opinion piece in March in STAT warned that the data collected about the number of people infected and how the pandemic is evolving “are utterly unreliable.” He said because of limited testing, some deaths and the majority of infections are being missed.

“We don’t know if we are failing to capture infections by a factor of three or 300,” he wrote.  “Three months after the outbreak emerged, most countries, including the U.S., lack the ability to test a large number of people, and no countries have reliable data on the prevalence of the virus in a representative random sample of the general population.”

Multiply the data problem with COVID-19 by the thousands of different existing rare diseases. For the millions of patients suffering from these conditions, data is the critical component needed to accelerate the diagnosis and treatment of these conditions. Researchers need the data to understand the underlying cause of a condition, how it manifests itself, how it progresses, and potential therapeutic targets to pursue. But many barriers exist today with the collection, formatting, and sharing of data about rare diseases.

The rare disease data that exists is often incomplete, segmented, or scattered. Researchers hoping to improve diagnosis, advance new therapies, or track treatment outcomes over time are often stymied by the inability to obtain adequate data. When it does exist, it may be scattered through hospitals, academic institutions, and drug companies that may, for a variety of reason, be unwilling to share what they have.

Patient organizations that seek to change the landscape by launching their own data initiatives often lack the resources, infrastructure, and know-how to tackle a range of issues ranging from technology to compliance. They may try to accomplish the task on their own using personal computers and spreadsheets, only to find years later that researchers may be unable to use the data because of the way it is formatted, or critical information is not included, or the organizers failed to meet compliance standards.

Patient groups that engage with third-party services may find the cost is out of their reach, that they must surrender ownership of their data, or that the technology provider is mining the data for their own profit.

In recognition of this need, RARE-X brought together rare disease patient organizations, academic institutions, providers, and drug developers to create a federated data platform that can address a significant obstacle to accelerating the diagnosis and treatment of rare disease.

The grant-supported and patient-led nonprofit provides state-of-the-art technology with services and tools that will help patient organizations improve the collection, quality, sharing, and analysis of patient data while keeping patients in control of who has access to their data and how it is used.

RARE-X provides even the smallest patient organizations access to state-of-the art data collection. Its federated, AI-enabled analytics platform allows users to connect and query their data, or other existing data sets.

We are at a remarkable time of biomedical information where the convergence of biological science and information technology are enabling the ability to make great advances. This is particularly true for genetic-based diseases where we have the ability to understand the relationship between genotype and phenotype and develop therapies that act on the underlying cause of these conditions.

The advent of accessible technology to patient organizations is enabling the transformation of patients from a passive players in the disease landscape to an active participants capable of driving initiatives to unlock the mysteries of a disease and point the way towards treatments and cures.

RARE-X furthers that trend by empowering patients with tools, technology, and support to gather and share the data essential to driving advances in rare disease and eliminating the financial barriers to doing so. Now, even the smallest patient organizations can find themselves on a level playing field with the most established and well-funded ones to rewrite the future of their diseases with data.