Zebras, not horses: combatting rare disease via education
Ben Hargreaves speaks to Elsevier about the launch of its latest tools to improve access to information on rare diseases, such as through short-form video and through a newly launched journal.
World Rare Disease Day falls on the 28th of February each year, except on leap years, when it occurs on the 29th. The symbolism is clear: the 29th is the rarest day of the calendar. Rare Disease Day aims to highlight the challenges that are faced by those living with a rare disease, to focus attention on the more than 7,000 diseases that fall under this umbrella, and to encourage more research and education to be carried out. There are approximately 400 million people afflicted by rare disease worldwide, of whom around half are children. Of those living with a rare disease, 65% will experience a reduced lifespan associated with their condition. In total, 30% of children with a rare disease will die before reaching five years old.
Despite the numbers of people involved, and the health risks posed, being accurately diagnosed and provided a treatment can be a difficult process. The average time taken to reach a rare disease diagnosis is between four and nine years. The reasons for the delay in finding an accurate diagnosis are varied, but the central issue is the rarity of the conditions involved. It means that experts on individual diseases are few and geographically disparate. It also means that many physicians may not be aware of certain rare diseases, which can lead to a delay in referrals to the correct specialist. The variety of conditions encompassed across the rare disease area is also a task that keeps getting larger, as new diseases are identified. However, there is one strategy that can address the knowledge gaps, both in the professional and the public sector, and that is through improved education.
Content is king
This is Elsevier’s plan, alongside its subsidiary Osmosis, as it announced the launch of the ‘Year of the Zebra’ on Rare Disease Day. Elsevier is a research publishing and information analytics company, while Osmosis is a video health education platform, which the former acquired in 2021. The two organisations launched several initiatives to mark the occasion, with Elsevier creating an open access scientific journal, Rare, which will focus on the latest research impacting patients’ lives, and highlight the patient experience through peer-reviewed contributions from patients and caregivers. The effort also includes the Elsevier Rare Diseases Healthcare Hub, an online information centre dedicated to rare diseases and those affected by them. Osmosis will deliver videos to the information centre, as well as hosting them on its website, where the company plans to highlight one ‘zebra’, or rare disease, every week by publishing a video on a specific rare disease.
Shiv Gaglani, co-founder of Osmosis, explained ‘Year of the Zebra’ was created through his experience in medical school, where he was taught, “When you hear hoofbeats, think of horses, not zebras – meaning, think of the common conditions, not the rare disorders. That mentality has contributed to the lengthy diagnostic odyssey that rare disease patients go through to receive the appropriate care.”
When pharmaphorum reached out to Gaglani for further information about what the barriers have been for knowledge on rare conditions, and for producing educational content, he explained, “One of the main reasons for the lack of content on rare diseases is that not much has been known about these conditions. Fortunately, advances in medical science, such as whole-genome sequencing – which has become exponentially cheaper over the past few decades – have helped us learn more about these rare disorders and lower the cost for screening and identifying patients with these conditions.”
Gaglani outlined that one of the reasons why Osmosis is working on this content is because existing curricula at health professional programs have time constraints. In this way, the company can step in to augment such programs by developing and distributing short-form and engaging video content, which current and future clinicians can engage with easily.
The more you know
In terms of why it is so important to be able to provide this educational material to healthcare professionals, it is due to the rarity of the conditions that make up the therapeutic area. There is limited time available to spend studying the diseases, and there are likely to be few patients that are encountered during practice. As a result, Elsevier aims to educate practitioners each week by sending out a newsletter, with information on a particular condition and featuring a story of a patient affected by it. The organisation also partners with rare disease organisations, as well as life science organisations, to provide them with access to Elsevier’s datasets and tools in order to accelerate research and discovery, Gaglani added.
Through Elsevier’s acquisition of Osmosis, the company was able to tap into the outreach provided by the creation of digital content. Gaglani stated that Osmosis is now the largest medical education channel on YouTube, with over 2.7 million subscribers and hundreds of millions of views. “YouTube is the second-most popular site in the world and one of the first resources that people turn to when they need to learn about something. This ranges from healthcare professionals looking for a quick refresher on how to perform a procedure, to a patient and their loved ones with a new diagnosis,” Gaglani explained, regarding why having a strong YouTube presence is helpful to provide information to a broad audience.
Part of this project is also advocating and broadcasting the experience that individuals go through in living with a rare disease. Despite the importance of educating medical professionals to recognise the conditions and to develop treatments, patients face their own unique challenges to understand their disease, and to reach the support they need.
Outlining their work on this, Gaglani said, “One of Elsevier’s core pillars is to make healthcare truly inclusive for each and every patient and their loved ones. Those with rare diseases have unique needs, which we’ve learned about and highlighted to our audience through dozens of podcast interviews with patients and advocates in the community. For example, they often need help navigating an already-complex healthcare system to find the relatively few clinicians and researchers who are experts on their conditions.”
He concluded, “We will continue to highlight these important stories with the hopes of inspiring more researchers and clinicians to dedicate their time to finding treatments and providing care to this important community.”
