Prioritising rare disease

Overview of rare disease

Rare Diseases, also referred to as orphan diseases, are characterised by having low prevalence (typically affecting fewer than 200,000 people) yet being chronically debilitating and severely life threatening. The anticipated growth of Rare Diseases in part due to the improvements in scientific diagnosis and therapies into more specific and personalized categories In the Asia-Pacific region, an estimated 200 million people are living with one of the 7,000 known Rare Diseases, of which 80% are genetic in origin. In 2019, UN Member States adopted the historical Political Declaration on UHC including a commitment to strengthen efforts to address Rare Diseases, the first-time Rare Diseases have been included within a UN declaration adopted by all 193 Member States. Importantly, health systems in the Asia-Pacific must address Rare Diseases head-on so as to provide more personalized care solutions to their populations, and to realize the goal of Universal Health Coverage – leave no one behind.

Problem statements of rare disease

Problem statement #1: Lack of priority for “rare disease”

Government administrations rely on clear and consistent definitions for health policy development and planning. However, many economies either do not have a definition of “rare disease” or have one that is unofficial or informal. Criteria are often inconsistent, lacking clarity and transparency on inclusion points and methodology for which conditions are eligible.

  • How can we adopt a more universal definition of Rare Diseases in the Asia-Pacific, and which stakeholders must be at the table to drive the initiative?

Due to the low prevalence of Rare Diseases – yet high fatality rates – the opportunity for impact of such classifical education techniques as patient communities are more challenging. For example, there are much fewer publications about Rare Diseases coming from the Asia-Pacific than for other therapeutic categories.

  • What mechanisms are required in order to shift our thinking in the Asia-Pacific from looking at diseases in mass, to more effectively treating disease in a personalized, precise way?
  • How can we put more focus on this topic for Asia-Pacific leaders to implement into their health system policies?

Problem statement #2: Capability and capacity development among youths

Problem statement #2: Capability and capacity development among youths
The lack of genetic counselling, pre-natal screening, and advanced new-born monitoring for metabolic and other congenital conditions has contributed to late-stage diagnoses of “rare disease”. This is compounded by the lack of advanced knowledge among healthcare professionals who are often not trained to recognize diseases that occur infrequently. As a result, 25% of Rare Disease patients are forced to wait up to 30 years before obtaining a diagnosis. And most have to travel to a different geography in the process, with nearly half of these patients receiving at least one misdiagnosis.

  • How can countries in the Asia-Pacific start to shift their resourcing model (people, processes, funding) toward more personalized interventions for youths, including pre-natal and new-borns?
  • How could the healthcare practitioner community ensure regular education so as to stay up-to-date on disease categories that occur less frequently?

Problem statement #3: Capability and capacity development among wider populations

Problem statement #3: Capability and capacity development among wider populations
Up to 8,000 type of Rare Diseases have been identified, but treatments are only available for roughly 200 of them. The treatments which are available, however, often require highly specialised and coordinated medical care, which can be difficult to provide in countries with insufficient healthcare infrastructure or lower-resource settings. As a result, there tends to be misalignment between the required investment and associated economic benefit of dealing with nicher patient populations. The burden is then often left with individuals and families to make something work. According to one study, the residual medical expenses of patients with Rare Diseases exceeded three times their own income and twice that of their family’s – indeed, over 90% of Rare Disease patients surveyed ar not able to make a sustainable living, literally forced to choose between life and death.

  • How can we “reimagine” health system policy such that there is greater embracing of Rare Disease patient pathways, interventions across the population?
  • What kind of creative financing model could be possible that balances subsidization with individual accountability with public-private agreements?

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Thematic areas

Increasing life course immunisation

Enhancing diabetes management

Preventing Respiratory Syncytial Virus

Prioritising rare disease