The US public health system should prioritize rare diseases in the same way it has with COVID-19, said Christopher Austin, MD, founding director of the National Center for Advancing Translational Science (NCATS), a division of the National Institutes of Health (NIH).

He said that as director of NCATS when the pandemic hit in early 2020, “it was extraordinary to me how the ecosystem of collaboration changed overnight, when the urgency that rare disease patients and their families feel every day was all of a sudden felt by every member of the public, because they were all worried they would get sick and die.”

Dr. Austin, now CEO of Flagship Pioneering, spoke October 18, 2021, during the first day of the 2-day virtual National Organization for Rare Disorders (NORD) Breakthrough Summit 2021.

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“We need to be in-your-face,” he said. “If we, as a society, are not willing to do the same thing for patients with rare diseases, we’re saying that we value the lives of COVID-19 patients more than those with rare diseases. That’s an expression of what’s at stake here.”

Anne Pariser, MD, director of the Office of Rare Diseases Research within the National Center for Advancing Translational Science (NCATS), a division of the National Institutes of Health (NIH). Credit: Larry Luxner

Anne Pariser, MD, director of the Office of Rare Diseases Research within NCATS, moderated the session, titled “Rare Diseases as a Public Health Challenge.” She noted that rare diseases collectively affect some 30 million Americans, yet fewer than 5% of these diseases have approved treatments or cures.

In 2019, a combined 379 rare diseases affecting 15.5 million people resulted in $966 billion in direct and indirect costs to society, Dr. Pariser said. And an NCATS study of the 14 most common rare diseases showed that their per-patient cost burden was 3 to 5 times higher, on average, than for age-matched controls.

Researching rare diseases pays off in many ways, she said, leading to medical breakthroughs such as chemotherapy and gene therapy.

Dr. Austin noted that technologies which didn’t even exist 5 or 10 years ago, including whole genome sequencing and exome sequencing, are commonplace today. Diagnoses can be made even before birth, “and yet, we allow most of those children to go off into the world without the diagnoses they could have had,” resulting in irreversible disabilities.

“As a physician and a human being, my obligation is to intervene when patients are ill and I know what to do,” Dr. Austin said. “When I was in training as a neurologist, most rare diseases were not understood. Over the last 35 years, the molecular basis of almost 7000 diseases have been discovered, so we know how to diagnose these disorders and develop treatments for them. We have an obligation to address this opportunity that is now before us.”

Gail Jarvik, MD, PhD, is head of the medical genetics division at University of Washington Medical Center in Seattle, and current president of the American Society for Human Genetics. In her presentation at the session, she recalled meeting a 30-year-old woman who had a condition so rare that she declined to identify the disease for fear of revealing her patient’s identity.

“She was sent to me for an acute problem that may have been genetic. She had health issues all her life, and I was able to make a diagnosis,” Dr. Jarvik recalled. “When the results came back, her father cried. It was such a relief to him, because he had developed a hypothesis about what he had done wrong to cause her disease. But the moment that sperm hit that egg, this person was going to have this disease—and there’s nothing the family could have done to change that.”

Brian Smith, JD, MPH, who focuses on public health policy at the University of Illinois College of Law in Champaign, knows about rare diseases firsthand.

“When I was a kid, it meant that my mom wasn’t always feeling very well,” he said. “In 1998, she participated in a genome study where my entire family went to Nashville and gave blood samples, so they were able to pinpoint what was going on. But once there was a diagnosis, then it became an issue just trying to get resources.”

A COVID-19 testing center in midtown Manhattan in New York City offers free PCR and rapid antigen tests as a convenience to New Yorkers and visitors alike. Credit: Larry Luxner

If there’s one lesson COVID-19 has taught patient advocates, Dr. Jarvik said, it’s that care for those with rare diseases is not well distributed across the country,

“You often need teams of people to get to these diagnoses, and a lot of patients don’t live close to a medical center than can offer such services,” she said. “Here in Seattle, before the pandemic, patients had to get on a plane and fly to us in order to be seen,” and telemedicine, even if conducted in-state, was not reimbursed by insurers, she explained.

But in the wake of the pandemic, state rules were changed so that remote consultations could be covered by insurance—a welcome development, said Dr. Jarvik, since physicians often don’t need to physically lay hands on their patients to know what’s wrong with them.

“Frankly, this will be an improvement going forward, so that patients don’t have to travel to us,” she said. “I would like to see those changes become permanent.”


Rare diseases as a public health challenge. Presented at: NORD Breakthrough Summit 2021: October 18, 2021; Virtual.