Watch: A conversation on breakthroughs in rare disease diagnosis

On Thursday, November 4th, Axios health care editor Tina Reed explored the research breakthroughs, as well as the economic and health care barriers impacting patients on the path to rare disease diagnosis, featuring National Institutes of Health National Center for Advancing Translational Sciences (NCATS) acting director Dr. Joni L. Rutter and RARE-X founder and chief engagement officer Nicole Boice.

Dr. Joni L. Rutter explained what the term ‘rare diseases’ encompasses, the present difficulties in identifying and treating rare diseases, and how to approach these difficulties with a public health lens.

• On challenges surrounding classification of rare diseases versus common diseases: “It makes it very difficult for us to track patients who have rare diseases in our health care system. If we can’t track them, that means that they’re not getting the appropriate care...it takes it much longer for them to actually be seen by doctors and know particularly how to treat them.”
• On treating research on rare diseases as a public health problem: “If you think about the U.S. alone, that’s $400 billion in direct medical costs per year that we’re spending on rare diseases. This is a huge health care burden that we wanted to really understand and actually put a number on. Now that we know that number, we know that research on rare diseases as a public health problem really makes common sense.”

Nicole Boice illustrated the vastness of the rare disease community, how the health care system can best support patients with rare diseases, and how data collection is streamlining patient diagnostic journeys.

• On the biggest challenges for rare diseases: “It’s three really big challenges that face rare disease: data silos, the lack of structured and appropriate data for research, as well as no data.”
• On collecting rare disease data for patients to access: “We’ve got to figure out a way to streamline and automate some of the data that we know patients continue to get asked for...a lot of what we’re doing is creating that automation, ease of use, deburdening patients, increasing engagement and data sharing and the ability for us to create a more efficient approach to tackling some of these big massive challenges in rare disease.”

Axios Chief People Officer Dominique Taylor hosted a View from the Top segment with Takeda Pharmaceuticals senior vice president and head for the US Rare Disease Business Unit Cheryl Schwartz, who addressed complexities that make the diagnostic process for patients with rare diseases more difficult.

• “Part of the complexity of diagnosing a rare disease is that a lot of health care providers don’t actually have experience with it, and a lot of the symptoms can actually resemble those of more common conditions. So this can result in either an inaccurate or a significantly delayed diagnosis. Then at the same time, there’s a lot of systemic barriers that patients face when it comes to their diagnostic journey.”

Thank you Takeda Pharmaceuticals for sponsoring this event.