In September 2019 Global Genes published a new report, NEXT: Imagining the future of rare disease. Authored by Daniel Levine, it included an immense range of insights from luminaries of science, technology, medicine, researchers and patient advocates.

Whilst great progress has been made in the field of rare disease in the past 10 years, challenges remain for the community.

According to research conducted in 2014 on behalf of Global Genes, a patient with a rare disease will visit an average of 7.3 physicians and it will take 4.8 years from symptom onset to an accurate diagnosis.

Rare diseases are complex; with over 7,000 such conditions known, 80% are genetic disorders and 50% of those affected are children, with many of the disorders being exceptionally rare. A patient will often present symptoms associated with more common conditions, which is why they can be so difficult to diagnose, and this is commonly combined with the problem that physicians may never have seen a specific rare disease before or even be aware that it exists. Although the prevalence and severity can also vary enormously, there are few commonalities.

It is perhaps unsurprising that, despite technological and medical advances in recent years, a misdiagnosis or a lack of knowledge remain significant challenges for people with a rare disease or undiagnosed condition. Being without a diagnosis is a very difficult place for families to be, affecting the health, survival, wellbeing and, often, the patient’s very identity. Achieving one, even if there is no cure, can at least help the family understand what they are facing; they can start to focus on how to manage the disease and their 'new normal'.

And this is a crucial consideration. An ongoing challenge in rare disease is the impact on the family of the person with the condition and the primary care giver. In many cases, it is the parents who are required to perform medical and nursing tasks without training. One in four rare patients take part in clinical trials and it is the caregiver who completes paperwork, provides transportation and co-ordinates care. These are vital resources for the patients and yet two thirds of rare carers say they find it difficult to maintain their own health.

Combined with the additional financial impact of rare disease on a family, stress and anxiety remain considerable challenges. It is well understood that rare patients succeed with co-ordinated care and structured support but what is available can vary greatly from country to country and payer to payer, in territories without universal healthcare. Access to support services and therapy, even if it exists, can be an enormous problem; often the cost of managing patients with a rare disease and the price of a medicine can be prohibitive for people and their health care system.

The use of technology and social media can act as powerful platforms for patients and carers to build networks and support communities, and provide a useful channel to accumulate valuable insights, experiences and knowledge in a real-world setting. This insight can place greater power in the hands of patients who are identifying potential therapeutic benefits of using existing medicines off label, even mobilising the development of evidence to influence care pathways and therapy options, with some recent cases presenting significant positive impacts on the reduction of disease burden.

The costs of rare diseases are a stubborn, significant issue. Of course, high prices must be justified, costs need to be reduced, drug development processes should speed up in tandem with improved clinical trial efficiencies, while data sets need to be shared - including the results of failed trials. Rare disease patients often express frustration about being considered as trial subjects rather than people, so, as partners in the drug development process, the most relevant of outcomes for them should be the focus of the trial.

Collaborative research

There is a clear need to encourage collaborative research, ideally on a global scale while securing funding for such activities. A rare disease will affect people in multiple countries and with such small patient populations, the impact of an international initiative could make the difference between a breakthrough and none. Today, researchers around the world can be working on the same disease, using different terminology and classification systems and be unaware of how the work they are doing invaluably relates to that of others.

A fundamental challenge in researching rare disease is gaining access to enough patient data; even in this age of interconnectivity and social media. Patients are difficult to find; information is siloed, and complications arise because of perceived privacy issues and ownership of data. There are also the limits of informed consent agreements, researchers who expect to control data for their work, the perceived commercial value of these details and variance across health systems and payer structures.

The ability to firstly capture patient and caregiver data in order to advance research and drug development is, of course, essential but to be able to use it as well is a significant current problem that is challenging the industry and regulators alike. Changing the drug development process to become more patient centric will not only help patients with rare diseases but those with more common ones as well, leading to significant benefits to payers and health systems as well.

Parents and patients are the primary advocates for their disease and many examples exist where parents have accurately diagnosed their child’s illness. Complete reliance on the medical community is often not enough to help those people affected by a rare disease or with an undiagnosed condition.

Parents are building biotech companies, patient advocacy groups, technology platforms and data models and these are the new pioneers that sit alongside the medical and science community. And yet we have also to acknowledge that, despite the amazing leaps forward, 85% of those affected with a rare disease still have no organised group to rely on for support or advice and insights that could improve their quality of life, their chance of a diagnosis or the support to reduce the burden of disease.

Natalie Douglas is vice chairman of Global Genes and founder of Lucidity LLC