According to the National Press Foundation (NPF), journalists serve an important role in making the public aware of rare diseases, the plight of patients and the need to develop more treatments to address an estimated 7,000 conditions.
That’s why the foundation recently offered a three-day workshop for reporters in Washington, D.C., following the Breakthrough Summit hosted by the National Organization for Rare Disorders. The mid-October event included online talks and Q&As with experts on topics that included cutting-edge therapies, obstacles to treatment access and how to advocate for patients.
“There are several urgent bottom lines that must be properly communicated about the rare disease experience and journalists can help,” said James Levine, President of Fondation Ipsen, which sponsored the workshop.
Researchers and advocates participated from organizations and institutions all over the world, including universities, hospitals, the U.S. National Institutes of Health, biotechnology companies and advocacy groups. In tandem with the event, NPF awarded 25 journalists their Covering Rare Diseases 2022 Fellowship to work on special projects related to rare disease. This reporting will appear in the journalists’ home publications, including Science News, National Geographic, The Globe & Mail and others worldwide, as well as reprinted in an upcoming book.
NPF, a non-profit launched in 1976, seeks to “make good journalists better” through training, fellowships and awards. Offering a training session on rare diseases allowed the organization to dispel some misconceptions. For instance, rare diseases are rare, but there are so many rare diseases that they affect about 10 percent of the population.
The Hunt for Genetic Mutations Is On
In the last few decades, rare disease research has seen immense progress, thanks to advances in genomics. In 1990, researchers had identified the genetic mutations – the origins of the diseases – for just 61 rare conditions, said Dr. Eric Green, director of the National Human Genome Research Institute at the NIH.
“Today, because of advances in our ability to inexpensively sequence human genomes, understand and catalog genomic variants and figure out how genomic variants influenced genome function, we've now been able to characterize and determine the gene that is mutated in nearly 6,000 rare diseases,” he said. “Yes, we have another couple thousand we need to figure out, but this has been one of the greatest triumphs of human genomics research.”
Building on that foundation, scientists must work to turn research successes into available treatments for patients, said Dr. Joni Rutter, the Acting Director of the National Center for Advancing Translational Sciences (NCATS) at NIH. Getting those innovations in diagnostics and treatments into the hands of the general public is the “translational” part of NCATS’ name. The goal is to translate “research observations into health solutions,” Rutter said. “Our vision is a future of more treatments, for all people, more quickly.”
The need is great, both in terms of people affected as well as in costs. Rutter said that medical costs for people with a rare disease are around three to five times greater than the general population. That figure extrapolates to around $400 billion in medical costs in the U.S. alone. The costs of rare diseases are on par with the costs of heart disease, cancer and Alzheimer’s disease, she said.
Throughout the workshop, experts were optimistic about the potential impact of new, big-picture solutions that will help diagnose and treat rare diseases. For instance, about 200 new rare diseases are found each year thanks to technological advances in whole genome sequencing. Important next steps include sequencing more diverse populations to reduce disparities in care. Currently, genomic data is highly skewed toward populations of European descent, said Dr. Claudia Gonzaga-Jauregui, researcher at the Universidad Nacional Autónoma de México.
“This is important because it not only impacts the research that we can do in terms of understanding human variation and human evolution and the implications for health, but also in its application. It has implications for public and precision health,” Gonzaga-Jauregui said. “There is a lack of transferability of association markers across different populations.”
Availability of New Treatments Will Be Key
Gene therapies have emerged as one of the most exciting avenues to treat rare disease, Rutter said. “I think this is really where we have a lot of promise,” she said. To deliver these therapies, a viral vector delivers a therapeutic gene.
“I hope that the next decade ahead will dramatically increase the number of therapies that are available for rare diseases,” Rutter said.
Of course, having effective new treatments isn’t the same as having access to them. Annie Kennedy, Chief of Policy and Advocacy for the EveryLife Foundation for Rare Diseases, recalled something a mother of a child with a rare condition once told her: The woman said she once thought that the worst thing would be having a child who had a fatal diagnosis for which there was no treatment. But then, after her health insurer denied access to a newly approved treatment, she learned that the worst thing was knowing a treatment was available and not being able to access it.
By telling stories like this one, journalists can shed light on the lives of rare disease patients. Ultimately, more coverage of this overlooked health care topic could ultimately improve outcomes for patients.
“We need your help in telling the story – the 10,000 stories – of rare diseases,” Rutter said.