Giving hope to those living with rare diseases

Rare diseases are characterized by having low prevalence (e.g. defined as 1 in 2,000 people in Europe) with chronically debilitating and severely life threatening implications. Unique profiles, yet when added together, equate to approximately 200 million people living with rare diseases in Asia Pacific (APAC). Unfortunately, due to the low prevalence, they are often not prioritized.

Health systems in APAC must address rare diseases head on so as to realize the goal of universal health coverage – leave no one behind. In that spirit, Sanofi and KPMG, with the support of the World Economic Forum, have included “rare disease” as one of the thematic focuses for the upcoming position paper surrounding the theme of “Sustainable Healthcare in APAC: Financing & Delivery Models”.

In order to unlock innovative financing and delivery models for rare diseases in APAC, a session was conducted in Singapore to gather multisectoral stakeholders from multilateral organisations: policymakers; healthcare practitioners; pharmaceutical companies; patient associations; digital innovators and more. While the report is still being written – and further APAC local market co-creation sessions are expected – we share our initial findings for International Rare Disease Day

Unsurprisingly, insufficient prioritization was ranked as the first and foremost concern, as reflected through the lack of official definitions and policies for rare disease in many countries.

Limited capacity and capability for diagnostics was ranked as the second top challenge, contributed by the lack of genetic counselling and screenings, and limited advanced knowledge among healthcare professionals. As a result, patients can take up to seven years to receive the correct diagnosis.

Value story: While rare diseases only affect marginal populations, they consume a disproportionately large amount of healthcare resources. This is not including the emotional strain and productivity loss of sufferers and carers. Aggregating data and patient stories to demonstrate the burden of diseases, both quantitively and qualitatively by trade associations and key opinion leaders, could make a compelling case for politicians to assign higher priority. Changing the narrative of rare diseases, labelling them as “unique” instead of “rare”, could improve how they are perceived. Many diseases, such as cancer, were once considered “rare” when they were first discovered.

The power of unity: “Alone we can do so little, together we can do so much.” To date, there are 7,000 known rare diseases and multiple patient platforms. Patient groups could consolidate their experiences across platforms to create greater impact. Such an approach has been met with success in India for the disabled community, where hundreds of patient groups came together to effect a landmark legislation change.

Grouping of diseases: Within rare diseases, there is variability in terms of prevalence, characteristics and the type of treatments required (one-off intervention vs life-time care support). Establishing a standardised framework for grouping of diseases could help to prioritize high impact rare diseases more appropriately.

Establishing the priority of rare diseases at national level is half the battle. The remaining half is to provide patients with access to the correct diagnosis so that they stand a chance to receive the necessary treatments.

Early diagnostics: Raising the awareness of the symptoms among patients allows for more timely visits to doctors and averting unnecessary outcomes. Leveraging the power of social media to initiate campaigns, like the successful ALS Ice Bucket Challenge, could help generate the awareness.

A top down approach is to utilize enforced screenings, for example, healthcare practitioners could prompt patients at risk to receive screenings based on their past digital health records and family history. Healthcare practitioners should also be trained to bring about a diagnostic odyssey before concluding a diagnostic impasse.

Since most rare diseases are attributed to a genetic cause, new mothers must be advised to receive newborn screenings for early detection. The widely adopted newborn screenings in Singapore have revealed the prevalence of rare diseases among the new births, providing an impetus for the policy makers to assign higher priority.

Access of diagnostics: For patients who face challenges in getting a diagnosis, healthcare practitioners could direct them to global programmes such as Undiagnosed Diseases Network International (UDNI). Nonetheless, access to diagnostics has to be paired with affordability.

While diagnostics are important, what comes after it ─ access to treatments and care – are equally important. However, often the residual medical expenses of patients with rare diseases exceed their own income.

Collaboration with private sector: Relying on governments alone for funding will not be enough to provide financial sustainability across patients’ lifespans. Public and private sectors need to come together to narrow the funding deficits. Creative mechanisms, such as issuing social impact bonds or leveraging financial data to facilitate provision of installment plans to patients could be explored. While exploratory solutions such as providing installment plans may expose financial institutions to certain risks, it can be mitigated by partnering with stakeholders such as pharmaceutical companies for collateralization.

Tackling rare diseases requires a global effort. Another role that financial institutions could play is to act as an intermediary to facilitate cost-effective cross-border funds transfer among patient organisations.

Cross-border sharing: There is strength in regional collaboration, as evidenced from the formation of APEC Rare Disease Network and Action Plan. The existing plan could be extended to bringing countries together to streamline resources and enable patients with wider access of care:

1) Standardize rare disease matrix such as defining high impact rare diseases and their treatment needs ─ one off vs recurring.

2) Establish standard packages of care for different rare diseases and facilitate financing capacity planning.

3) Devise standard legal frameworks to facilitate cross-border sharing of resources and data.

4) Form regional COEs to drive concerted research effort and to map resources needs.

These initiatives could potentially be financed by leveraging the trend of medical tourism to attract non-Asian patients and offset financing needs in other areas.

The actualization of the various proposed solutions requires the backing of data to quantify the impact and to facilitate prioritization. Afterall, data speaks louder than words.

Approximately 80% of rare diseases have genetic causes. While most rare disease patients are deprived of the choice to determine their fate, we have the opportunity to provide them with greater access to diagnostics and treatments. Most of the sufferers are children and they rely on us to make their voices heard. Because if not us, then who?