As a former paediatrician and the CEO of the leading biotech focused on rare disease, I see the rare disease community as uniquely positioned to benefit from technological innovation in healthcare. During my years of working in children’s hospitals, I have seen first-hand the challenges faced by families who have children with rare diseases and have gained a deep understanding of the unmet needs of this community.
Our primary responsibility is to help these patients and their families lead better lives. This means we must embrace technological advances with precision and speed.
The rare disease burden
Approximately 7,000 rare diseases have been identified, yet the vast majority of these often severe and complex conditions have no specific treatment. Although each rare disease affects a relatively small number of patients, together they are one of the largest under-served patient populations in the world – 350 million – and pose a significant medical and economic burden for patients and communities.
They also affect the most vulnerable among us: about half of all rare diseases begin in childhood, and many patients endure life-long suffering. Sadly, rare diseases often result in a shorter lifespan, and around one in three children with a rare disease will not live beyond their fifth birthday.
Technology to improve diagnosis and patient outcomes
One of the areas where technology can potentially have a tremendous impact is in diagnosis. In the UK and the US, for example, the average time to obtain a correct diagnosis for a rare disease patient is five to seven years. They see an average of 7.3 physicians during this journey. In an effort to improve this process, healthcare providers are using new technologies and tapping large data sets to better identify symptoms and expedite diagnoses.
A doctor, for example, can run a set of patient symptoms through their hospital’s system and, if they find that other patients in the hospital have had the same set of symptoms, they can utilize that information to decide what types of tests to run, including tests for rare diseases.
Companies are also revolutionizing how we treat patients by tapping into stores of health data to deliver personalized care on a large scale. Innovations like this have the potential to dramatically improve the way we identify and diagnose patients with rare conditions.
One area of innovation for Shire is artificial intelligence (AI) chatbot technology, which will make it easy for patients to get common questions answered at a time and place that’s convenient for them. This can take place without the need to interact directly with a patient services representative if no one is available at the exact time of need.
In addition to AI, another promising technological innovation is the use of wearables and sensor technology, particularly in clinical trials. These tools have given us the ability to more seamlessly collect real-time data from patients, which can be especially helpful with paediatric patients, a group that has been traditionally difficult to monitor. Given that 50% of rare conditions begin during childhood, many of these trials rely on results from children, and advances such as wearables and sensors can allow a child to be monitored in a real-world setting in a minimally intrusive way.
Moving toward a shared future
As we gather at this year’s World Economic Forum Annual Meeting to discuss how we can create a shared future, it is clear that emerging technologies will significantly shape it. By convening leaders and stakeholders from different industries and backgrounds, we can foster important discussions on how to speed up and how to embrace innovation in the digital era.
I look forward to continuing to work with experts, both inside and outside of healthcare, as we progress medical advancements in rare disease. By working together, I am confident we can devise much-needed solutions for patients.