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Urgent Action Needed to End Suffering of People Living with Rare Diseases in Asia-Pacific

Economist Intelligence Unit (EIU) Report launched today reveals only one in three rare disease patients receives the best-available, evidence-based care.

Less than a third of surveyed healthcare professionals (HCPs) in Australia encounter a rare disease patient more than once every six months.

Across APAC, 94% of rare conditions have no approved medical treatment, highlighting need to shift towards the provision of non-medical services.

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Melbourne, 16 July 2020 – Results from an EIU report launched today highlight three high-profile priorities for improving the management of rare diseases: correct and timely diagnosis, improved financial assistance and greater consideration for non-medical support. Suffering in Silence: Assessing Rare Disease Awareness and Management in Asia-Pacific, sponsored by CSL Behring, explores the challenges around the diagnosis and management of rare diseases across five Asia-Pacific economies: Australia, China, Japan, South Korea and Taiwan.

There are between 6,000 and 7,000 known rare diseases globally and, despite their classification as rare, they affect an estimated 258 million people in Asia-Pacific,[i][ii],[iii] approximately 50% of whom are children.[iv]

HCPs in this research report that, on average, only one in three of these rare disease patients receives the best-available, evidence-based care due to a lack of clinical guidelines, regulatory-approved medicine and funding for testing or treatment. This represents a significant disease burden and unmet need that cannot be ignored.

“Results from the EIU Report emphasize the urgent need to implement Australia’s National Strategic Action Plan for Rare Diseases, which was launched earlier this year by the Minister for Health,” said Nicole Millis, Chief Executive Officer of Rare Voices Australia.

“Building on existing strengths to formalize rare disease centers of excellence throughout Australia, will go a long way towards providing people living with a rare disease with the best-available, evidence-based care. Developing a national rare disease workforce strategy that is sustainable and responds to current and future demands, will help to reduce the challenges for healthcare professionals, including low awareness and knowledge levels. It is vital that we equip health professionals with the information and support they need to consider, investigate and refer for a potential rare disease diagnosis.”

As well as the three high-profile priorities for rare disease patients, the report also highlights currently achievable or near-term goals that policy makers could prioritize to make further improvements. These include better collection and use of data, enhanced HCP education, broader dissemination of available knowledge and the integration of social care through partnerships with patient representatives.

By creating a more holistic and unified approach to care, there is opportunity to improve the outlook for rare disease patients, assuring them of a decent quality of life, adequate financial support and a greater say in healthcare decisions that affect them.

Commenting on the findings, the reports editor, Mr Jesse Quigley Jones said, Our survey of HCPs across Asia-Pacific shows that they clearly need further support to better manage rare diseases, but are willing to collaborate with each other and the patient community to improve the care offered for those living with rare diseases. Health systems are slowly progressing towards more coordinated and integrated care, and a holistic approach in health policy that takes into account both the medical and social needs of the rare disease community is emerging in some economies.”

Peter Chow, Executive Director, Marketing, Medical Affairs and Market Access, Asia-Pacific, at CSL Behring said, HCPs who participated in the report confirmed the deeply frustrating and complex challenges patients face in their pursuit of a correct diagnosis and treatment for their illness. In helping support this research, we wanted to shine a light on these disparities and unmet needs.

We hope the report will spark constructive discussions among all stakeholders in the rare disease space and will go some way to honoring our promise to improve the quality of life for rare disease patients and their families in Asia-Pacific and beyond.”

Key findings in Australia:

  • The 2% of Western Australia’s population with rare diseases accounted for 10% of all hospital discharges and 11% of hospital costs; the true burden of such conditions is likely higher because of insufficient data.[v]
  • Respondents reported that, on average, 46% of cases are managed with best evidence-based care – the highest proportion among the surveyed economies.
  • When asked to nominate one action that should be taken to improve the lives of rare disease patients in Australia, the most common responses included: increased awareness and education for both physicians and the general public; and increased financial support for treatment and management that preserves patient function and palliative care.
  • 87% of respondents consider patients as (very) important when developing care pathways for rare diseases.

    From a regional perspective, the report finds:

  • HCP knowledge is the cornerstone to improving diagnosis and management of rare diseases. Across all markets, HCPs do not feel adequately equipped to diagnose and manage rare disease patients, as they seldom come across these patients. Around 14% of the surveyed reported that they had never encountered a rare disease patient in their career. As such, obtaining a correct diagnosis within a reasonable timeframe is the greatest challenge that HCPs have to overcome.
  • Patients are central to driving change and action for the rare disease community and they need opportunities to be heard. Yet, a majority of HCPs were unaware that rare disease patient groups exist in their jurisdiction. As the most effective determinant of change, patient voices have to be heard in order to design the optimal care pathways and drive key decision makers in both medical and political fields to action.
  • Rare disease patients require care that is both patient-centric and holistic, going beyond medicine. People living with a rare disease suffer layers of disadvantage beyond poor health, including the financial burden of paying for medicines and care associated with their disease, as well as social disadvantage with respect to mobility and employment. With 94% of rare conditions having no approved medical treatment,[vi] care needs to shift heavily towards the provision of non-medical services and to helping patients holistically so they can live well with an often-untreatable condition.

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WHITE PAPER AND COUNTRY SNAP SHOTS: To access the full report and relevant country snap shots please visit https://www.cslbehring.com/suffering_in_silence  

MEDIA ASSETS: An infographic and video summarizing the key findings are available on request.

About the research: A survey of 500 healthcare professionals from Australia, China, Japan, South Korea and Taiwan was conducted from October to November 2019. The survey gauged HCPsunderstanding of rare diseases, based on a framework formulated during preliminary advisory panel interviews with four leading experts. Following collation of quantitative data, interviews were conducted with 12 key opinion leaders to invite their qualitative interpretation of the survey results.

The Economist Intelligence Unit is responsible for the content of the Report. The findings and views expressed do not necessarily reflect the views of the sponsor.

About CSL Behring: CSL Behring is a global biotherapeutics leader driven by its promise to save lives. Focused on serving patientsneeds by using the latest technologies, we develop and deliver innovative therapies that are used to treat coagulation disorders, primary immune deficiencies, hereditary angioedema, respiratory disease, and neurological disorders. The companys products are also used in cardiac surgery, burn treatment and to prevent hemolytic disease of the newborn.

CSL Behring operates one of the worlds largest plasma collection networks, CSL Plasma. The parent company, CSL Limited (ASX:CSL;USOTC:CSLLY), headquartered in Melbourne, Australia, employs more than 26,000 people, and delivers its life-saving therapies to people in more than 70 countries. For inspiring stories about the promise of biotechnology, visit Vita CSLBehring.com/vita and follow us on Twitter.com/CSLBehring.                


[i] Based on the EIU estimation that 6% of the Asia-Pacific population of 4.3 billion is affected by a rare disease

[ii] The Economist Intelligence Unit Limited. Suffering in silence: Assessing rare disease awareness and management in Asia-Pacific. 2020.

[iii] United Nations Population Fund. Asia & the Pacific. Population trends. Available at: asiapacific.unfpa.org/en/node/15207. Accessed May 2020.

[iv] Batshaw ML, et al. Research into rare diseases of childhood. JAMA 2014;311:1729-1730.

[v] Walker CE, et al. The collective impact of rare diseases in Western Australia: An estimate using a population-based cohort. Genet Med 2017;19:546-552.

[vi] Asia-Pacific Economic Cooperation. Action Plan on Rare Diseases. 2018. Available at: www.apec.org/rarediseases/Action-Plan. Accessed May 2020.