The power of rare

Rare Disease Day takes place on the last day of February each year – this year it is on Sunday 28 February 2021. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients' lives.

Today there are an estimated 350 million people worldwide living with a rare disease – that’s nearly 1 in every 20 people. Despite this collectively large pool of patients, the unmet need remains high due to the individually small population sizes and nature of these conditions. Of the more than 7,000 rare diseases identified to date, 80% are projected to have a genetically linked origin, and currently only 236 have orphan drugs in the market or in development. The increasing adoption and results from genetic- based research has driven better identification and treatment of rare diseases, with an average of ~260 new rare diseases being described annually.

The number of drug approvals for rare diseases has boomed in the last decade, thanks to the targeted nature of scientific development and an increasing focus from industry on addressing the unmet needs of these small communities. However, considering less than 5% of the rare diseases identified so far have potential treatments, the opportunity to improve the outcomes and lives of these patients is tremendous.

Payers and regulators have also been chief architects of change. Before intervention, the pipeline of rare disease drugs was meagre, as there were no incentives for R&D, pricing or reimbursement to offset the risks and development costs associated with small patient groups. In the 1990s, and particularly in the 2000s, Governments started addressing this issue by modifying regulations at regional and national levels to create such incentives, encouraging industry innovations in rare disease treatments.

The science and technology developments behind this evolution are equally remarkable. With the evolution of genetic technology and increasing data and insights on the human genome, many genetically caused rare diseases that were formerly untreatable now have a roster of potential therapy options in clinical research and development.

The introduction of increasingly personalized and targeted interventions is a substantial change to the way health systems and companies are structured to deliver and fund care. With implications on healthcare budgets and care equality, cost-constrained healthcare authorities are pushing back on some incentives and creating access challenges. Additionally, there is a negative public perception with critics noting high premiums, expanding beyond orphan disease indications while maintaining high prices, lack of significant benefits or proven outcomes at launch, and lobbying for heavier tax and R&D incentives.

With this all said, it is often the rare disease patients and carers at the centre of driving change. Patients (and their families) suffering from rare conditions can spend years trying to get the right diagnosis, and even if diagnosis is quick, therapeutic options are often unclear or completely lacking. While each condition is unique, the emotional toll and common challenges to diagnosis and treatment are shared by many. Patients and their carers often turn to highly active patient communities that drive advocacy and support to find better options. These advocacy initiatives are becoming increasingly influential in physician groups, governmental agencies, public media, social and digital networks, helping to make rare diseases a more pressing and addressable topic.

We know there is still a long road ahead to improve the awareness, understanding and infrastructure needed to address many rare conditions. As compared to broad population diseases, achieving scientific and life changing advances for these patients requires even stronger partnerships across patients, global expert networks, industry, local healthcare ecosystems, policy and advocacy. If we can apply the kind of collaborations we have seen over the past year to improving the journey and outcomes for rare diseases, the impact to ongoing research, development and advocacy efforts on behalf of patients would be exponential.