SUFFERING IN SILENCE:ASSESSING RARE DISEASE
AWARENESS AND
MANAGEMENT IN ASIA-PACIFIC

Sponsored by:

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificContents
3

Executive summary		

6		

About the research

7

Section I. An introduction to rare diseases
in Asia-Pacific7		

Rare diseases move up the health policy agenda

8		Measuring up: The size of the raredisease challenge

10 Section II. Overarching challenges in managing
rare diseases
10		

United in diversity: To what extent do rarediseases constitute a coherent category?

14		

Box 1: Which diseases count?

15		

Inconsistent care quality

17		

Limited knowledge and experience18		

Making the necessary knowledge available
at the right time20		Box 2: Efforts to improve diagnosis inSouth Korea and Japan

22 Section III. Prioritising the response in Asia-Pacific22		

Difficulties in diagnosis

24		

The broader financial burden

25		

Looking at the person beyond the disease26		

Box 3: Taiwan’s comprehensive approach

28 Conclusions: Raising the profile of rare diseases
in Asia-Pacific© The Economist Intelligence Unit Limited 20202

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Executive summary
The collective challenge of rare diseases has
risen up the policy agenda in both the AsiaPacific region and globally. Various new andrevised health and social system measuresin Australia, China, Japan, South Korea andTaiwan—along with the 2018 Asia-Pacific
Economic Co-operation (APEC) Rare Disease
Action Plan—reflect a growing recognition of
the need to act.
As the region begins to get to grips with rarediseases, it will need to address significant
challenges, some of which are still emerging.
Health and social systems are making progressin many of these areas, but finding solutions
remains a work in progress.
This Economist Intelligence Unit study,sponsored by CSL Behring, looks at the natureof the rare disease challenge in the region,
how prepared five of its economies are to
face it, and reviews the initiatives aiming toprovide better care. It draws on a substantial
survey of over 500 clinicians, interviews with
16 academic, medical, government and patient
experts, and extensive desk research.
Our research identified several overarching
challenges and three high-profile priorities in
Asia-Pacific:

Overarching challenges
1. The lack of a unified definition for rarediseases can interfere with common
understanding, but an inflexible
approach is impractical based on thediversity of rare conditions• “Rarity” is not an objective medical
concept. As such, the definition of therare disease burden can vary greatly
depending on who is describing it.
The true burden of many rare diseases
in Asia-Pacific is not yet defined.

This has important consequences for
those deciding the design of research
programmes, care packages and forming
health policy.
• There are between 6,000 and 7,000
unique rare conditions, each withcauses, symptoms, treatment options
and outcomes that may have little incommon beyond their rarity.
Underneath this diversity, there arecommonalities which make it sensible
to address rare diseases collectively.
These include common problems forpatients and families around interactingwith the health system as well as similar
financial and social needs arising fromthe debilitating nature of many ofthese conditions.
2. Only a minority of patients receive thebest available evidence-based care
• Inconsistency and inequity in care is achallenge for rare disease patients in
Asia-Pacific. Our survey respondents
report that only a third of their raredisease patients receive best available
evidence-based care. When asked how
well their health systems performed
overall on diagnosis, treatment, andquality of care, the responses indicate
adequate, but not excellent, care.
• Our experts explain that the current
situation is nuanced. The more common
rare diseases, especially where treatedby multi-disciplinary teams, can receive
excellent treatment. Care for those withrarer conditions, those who live in rural
areas away from large medical centres or
those whose disease goes unrecognised
are more likely to have only adequate
provision or worse (see Page 16 of
this report).
© The Economist Intelligence Unit Limited 20203

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific3. Knowledge of many rare diseases isscant, as are reliable data
• Knowledge of rare diseases among
healthcare professionals in our survey islimited. Ranking their peers’ knowledgeof rare disease on a scale of “very poor”(1) to “very good” (5), respondents
on average gave a middling score(3.1). Knowledge gaps in our survey
respondents were common: 34% did
not know if their country had a unified
definition of “rare disease” and 35% were
unsure whether a rare disease policy
existed at all.
• This may simply reflect a lack of contact
with patients: respondents saw amedian of one new rare disease case per
year and rarely encountered the same
disorder more than a few times in an
entire career.
• There is a need to improve generalbackground knowledge througheducation; analyse where expertise
exists in the health system; collectand analyse data; and better integrate
information for use at point-of-care(see Page 18 of this report).

High-profile priorities
1. Reaching a correct diagnosis often
involves a lengthy journey through thehealth system• Our respondents rated diagnosis as thegreatest challenge in the rare disease
field. The issue includes both getting
it right and getting it done quickly. Toooften, patients wait years andsee multiple doctors before they
are diagnosed.

• National undiagnosed diseaseprogrammes are becoming morecommon in the Asia-Pacific region.
Examples in Korea and Japan show thata combination of multi-disciplinary
teams, advanced DNA sequencing
techniques, use of clinical databases,
and networking among domestic andinternational experts can facilitate
accurate diagnoses for around a third ofdifficult cases (see Page 20 of this report).
2. The financial burden can be substantial• When our respondents were asked
which single action would most help
those living with rare diseases, nearly
half (47%) mentioned improvements tofinancial support. The economic burdenof rare diseases for patients and families
is substantial. In China, for example,
the drugs themselves are unaffordable
for patients. Although other markets
provide some support for such costs,
not every condition is covered equally.
Out-of-pocket expenses beyond
medical costs can become substantial
for patients across the region (see Page
24 of this report).
3. Requirements of those living with rarediseases include financial and social careneeds, not just medical assistance• When asked how well government
systems provided for the different
needs of those living with a rare disease,our respondents ranked them lowest
overall at supporting quality of life.
With 94% of rare diseases lacking any
approved medical treatment, this is also
the area in which policy can have themost immediate impact in many cases.

© The Economist Intelligence Unit Limited 20204

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific• The multi-faceted needs of those withrare diseases make wider social careimperative. As patients often havedifficulty accessing employment or
education, assistance in these areas isan essential part of their overall care(see Page 25 of this report).

Responding to the challenge:
Co-ordinated policies can address
the diverse needs of those livingwith rare diseases
Despite the numerous challenges identified
in this study, there has been slow but
steady progress towards co-ordinated,
integrated care for rare disease patients
across the region. There are several
currently-achievable or near-term goals
that policy-makers could prioritise to makefurther improvements. These include
better collection and use of data, enhanced
education, broader dissemination of available
knowledge and the integration of social
care through partnerships with patient
representatives (see conclusions of thisreport for more details).

© The Economist Intelligence Unit Limited 20205

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

About the research
In November-December 2019, The
Economist Intelligence Unit surveyed
503 healthcare professionals acrossfive Asia-Pacific markets to gauge theirunderstanding of rare diseases and identify
the challenges faced by national healthsystems. Respondents comprised currentlypracticing specialist physicians (n=172),
general practitioners (n=229), nurses(n=40) and pharmacists (n=62). Markets
included were Australia (n=103), China(n=100), Japan (n=100), South Korea(n=100) and Taiwan (n=100).
In addition, in-depth contextualisinginterviews were conducted with 16 expert
representatives of clinical practice andpatient organisations to inform our research
programme and this report. Our sincerest
thanks go to the following for their time andinsight:
Takeya Adachi, program officer, Agency for
Medical Research and Development, Japan
Younjhin Ahn, Division of Rare Diseases,
Korean National Institute of Health Centre
for Biomedical Sciences, South Korea
Matthew Bellgard, professor and directorof eResearch, Queensland University ofTechnology, Australia and chair of the Asia
Pacific Economic Cooperation (APEC) Rare
Disease Network, Australia
Gareth Baynam, clinical geneticist anddirector of the Undiagnosed Diseases
Program Genetic Services of Western
Australia, Australia
Dong Dong, research assistant professor,
Chinese University of Hong Kong, Hong
Kong SAR

Elizabeth Elliott, professor of Paediatrics
and Child Health, University of Sydney,
Australia
Kevin Huang, founder, Chinese Organization
for Rare Disorders, China
Ritu Jain, president, Asia-Pacific Alliance ofRare Disease Organisation, Singapore
Sonoko Misawa, associate professor, Chiba
University Graduate School of Medicine,Japan
Yukiko Nishimura, founder and president,
NPO ASrid (Advocacy Service for Rare andIntractable Diseases’ Multi-Stakeholders inJapan)
Min-Chieh Tseng, co-founder, Taiwan
Foundation for Rare Diseases, Taiwan
Gregory Vijayendran, chair, Rainbow AcrossBorders
Richard Vines, chair, Rare Cancers Australia,
Australia
Jiaan-Der Wang, director of the Centre for
Rare Diseases and Haemophilia, Taichung
Veterans General Hospital, Taiwan
Yi’ou Wang, secretary-general, Illness
Challenge Foundation, China
Chao-Chun Wu, deputy director general,
Health Promotion Administration Taiwan
This research project was sponsored by CSL
Behring. This report was written by Paul
Kielstra and edited by Jesse Quigley Jones of
The Economist Intelligence Unit.
March 2020.

© The Economist Intelligence Unit Limited 20206

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificSection I. An introduction torare diseases in Asia-PacificRare diseases move up the healthpolicy agenda
Rare diseases in Asia-Pacific have seen “anincrease in focus” and “are getting more andmore attention” notes Matthew Bellgard,
chair of the Asia-Pacific Economic Cooperation (APEC) Rare Disease Network, aswell as professor and director of eResearch,
Queensland University of Technology,
Australia. Gregory Vijayendran, chair ofRainbow Across Borders—an Asia-Pacificrare disease patient umbrella group basedin Singapore—agrees: “Awareness has slowly
but significantly improved over the past
five years.”
Both experts consider there to be a variety
of factors behind this recent shift. Dr
Bellgard points to health system-relatedchanges, believing that the broader drive
toward universal health coverage has called
attention to the inadequate provision ofcare to under-served groups, including thosewith rare diseases. In addition, he notes thatan increasing emphasis on patient-centredcare is creating an environment in which themulti-faceted needs of rare disease patientscan be more effectively met. Mr Vijayendran,meanwhile, points to the rising public
profile of these conditions following diverse
efforts by governmental health authorities,
patient awareness and advocacy groups,
affected individuals and their caregivers, andclinicians. Patients have started to benefit
from greater recognition of rare diseases
and the challenges faced by under-resourced
health systems.

Policy developments reflect this increased
profile on the Asia-Pacific public health agenda.
Some prominent developments include:• The Australian government launched thecountry’s first National Strategic Action
Plan for Rare Diseases in February 2020;• Japan has rare disease policies goingback to the 1970s, but in 2014, newlegislation was passed to assist thosewith such conditions. In 2015 it ramped
up the search for causes and treatments
when the newly-founded Agency for
Medical Research and Development(AMED) made rare and intractablediseases one of its nine priority areas;• Also in 2015, South Korea’s Parliament
passed the Rare Disease Management
Act, requiring the Ministry of Health andWelfare to develop plans for theprevention, diagnosis, treatment andresearch into rare diseases;• Taiwan has fewer recent initiatives due
to its highly-regarded, long-standing
efforts. These began in earnest when it
passed the world’s fifth rare disease andorphan drug act in 2000. That said,
Taiwan has continued to improve
provision, most recently in late 2017 with
its publication of the Rare Diseases andRare Genetic Disorders Care andServices Plan.

© The Economist Intelligence Unit Limited 20207

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Emerging market countries are also taking
important steps. Yi’ou Wang—secretarygeneral of the Illness Challenge Foundation, aChinese rare disease patient group—notes that
“China has made rapid progress on policy inthis area in recent years”. Although no formalrare disease legislation exists, China’s National
Health Commission created an Expert
Committee of Rare Disease Treatment andSupport in 2016 and published its first national
list of rare diseases two years later. Meanwhile,
adds Ms Wang, an increasing number oforphan drugs are receiving approval and, since
October 2019, large Chinese medical insurance
schemes appear to be looking at ways toimprove coverage.
At the international level, APEC has had aLife Sciences Innovation Forum Rare Disease
Network since 2016. In late 2018, it launched
APEC’s Rare Disease Action Plan, the goal ofwhich is to provide member economies
with a policy framework for dealing withthese conditions.1

Measuring up: The size of the raredisease challenge
What is the nature and extent of the healthburden that has prompted these national andinternational responses? Any answer must
begin with an important caveat: in the wordsof Mr Vijayendran, this field suffers from“a distinct lack of data”. This is particularly
notable in Asia-Pacific where estimates,
rather than hard numbers, are common.
A clear example comes from China. Its
Centre for Disease Control supposes—quite
reasonably given the size of the country’s
population—that China has the world’s

largest number of people with rare diseases(16.8m in 2014).2 National figures on incidence
and prevalence exist for only 14 of the 121 rarediseases on China’s recently-issued national
list. A recent study found that available
Chinese data “are limited and typicallylack accuracy, uniformity, and timeliness”.3
Aside from the prevalence of insufficient or
inaccurate data, definitions of raredisease—including even the numbers
affected before a condition ceases to berare—vary widely between countries,
making comparison and aggregation evenmore problematic.
Amid the statistical uncertainty, the vast
number of rare diseases and their marked
collective impact on health systems is
nonetheless clear. Orphanet, an influential
37-nation consortium maintains the world’s
leading database of rare diseases. Using
the EU’s broad definition of conditions
with a prevalence of less than one per
2,000 population, Orphanet’s so-called
epidemiological file contained 6,172 known,
unique rare disorders in October 2018. 4 Since
new conditions continue to be discovered,
the common estimate of 6,000 to 7,000 may
be roughly accurate, but the breadth of thisapproximation also reflects our current lack ofcomprehensive knowledge.
Data are only available for around half of thediseases on the Orphanet list. In some cases,
information is lacking as no relevant studies
exist. For other conditions, such as rare
cancers, infections, and poisonings—which
together make up a little over 1,000 of theepidemiological file’s entries—incidence is abetter measure of burden than prevalence.

1 APEC, Action Plan on Rare Diseases, 2018.
2 Peipei Song et al., “Innovative measures to combat rare diseases in China,” Intractable & Rare Diseases Research, 2017.
3 Jiangjiang He et al., “Incidence and prevalence of 121 rare diseases in China: Current status and challenges,” Intractable & Rare Diseases Research, 2019.
4 Stéphanie Wakap, “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database,” European Journal of Human Genetics, 2019.

© The Economist Intelligence Unit Limited 20208

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Where prevalence figures are available, mostrare diseases affect only a small number ofpeople worldwide at any one time. According
to Orphanet data, 85% of rare disorders withknown prevalence have less than one existingcase per million people. Nevertheless, thesheer number of diseases (along with thehigher prevalence of more common but stillrare conditions) has a noticeable collective
impact. Overall, between 3.5% and 5.9%of the world’s population have at least oneof the Orphanet conditions.5 The inclusionof unidentified rare diseases, rare cancers,
infectious diseases and poisonings would
push this number toward the frequently cited
figure of about one in 15 people having a raredisease worldwide.
A study based on medical records in Western
Australia found that 2% of the total population
were admitted to hospital with a rare diseasein 2010. The study notes that the true burdenof such conditions is likely higher because
data were available for only 467 diseases. In
addition, an unknown number of people may
not have been hospital in-patients in 2010,
instead using outpatient, primary care, or no
medical services at all.6

Overall, an estimate of around 6% of the AsiaPacific population affected by a rare disease inany given year, is reasonable.
To put the burden in context, Elizabeth
Elliott—professor of Paediatrics and Child
Health at the University of Sydney and directorof the Australian Paediatric Surveillance Unit
(APSU)—estimates that because there areso many rare diseases the overall burden inAustralia is similar to that of diabetes
or asthma.
The financial cost to health systems,
meanwhile, is even higher than the preceding
figures suggest. The 2% of Western Australia’s
population with such conditions in 2010accounted for 10% of all hospital discharges
and 11% of hospital costs.7
Spending on rare conditions is rising
substantially, in part because of greater
health system coverage. In Taiwan, Min-Chieh
Tseng—co-founder of the Taiwan Foundation
for Rare Diseases—reports that National
Health Insurance spending on medical anddrug expenses for rare diseases grew from
US$17m in 2005 to US$196m in 2018.

5 Ibid. Pg. 8.
6 Caroline Walker et al., “The collective impact of rare diseases in Western Australia,” Genetics in Medicine, 2017.
7 Ibid.

© The Economist Intelligence Unit Limited 20209

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificSection II. Overarching
challenges in managing
rare diseases
Our research indicates that rare disease
policies in Asia-Pacific face both general,
overarching challenges and a number oflarge but more specific issues. First, generalchallenges take the form of workabledefinitions, quality of care delivery andknowledge among healthcare professionals.

United in diversity: To what extent
do rare diseases constitute a
coherent category?
Existing rare disease policies implicitly
assume that it makes sense to address thisgroup of conditions collectively, but the
sheer diversity of these disorders should not
be underestimated. As Sonoko Misawa—
associate professor at Chiba University’s
Graduate School of Medicine—puts it, almost
all of these diseases present “completely
different symptoms, treatment options anddegrees of disability”.
Many are genetic—comprising 72% of theOprhanet database—but other causes exist
as well. Cancers make up 11% of the Orphanetdisorders, while the condition that helped
launch Japanese public health interest inrare diseases in the 1960s, subacute myelooptic neuropathy (SMON), was traced
to overuse of a then over-the-counter
diarrhoea medicine. Most conditions (70%)
are paediatric onset, but the study from
Western Australia found mean and medianages of hospitalisation to be in the 50s for
those with rare diseases. While some rarediseases are chronic conditions which canlast decades, many others mean infants areunlikely to live beyond the first week of life, oras Richard Vines—chair of the patient group
Rare Cancers Australia—comments, “just longenough for their parents’ hearts to break”.

Amid this diversity there are important sharedissues faced by those with rare diseases andtheir loved ones. Dr Elliott explains that “allof these patients and families have common
problems: delays in diagnosis; clinicians who
may not understand the symptoms; difficultyin accessing treatment; the cost of multidisciplinary care; the fact that these conditions
are chronic and complex; and that they
have a huge impact on patients and families
financially, socially, and psychologically”. Ritu
Jain—president of the Asia-Pacific Alliance ofRare Disease Organisations (APARDO) and afaculty member at the Nanyang Technological
University’s School of Humanities—notes thatthe feeling of being affected by an unusual,poorly-understood disorder can also bring a
sense of isolation.
As noted above, rare disease policies areproliferating but no standard template exists.
Each country’s efforts have a distinct history,
which can affect how officials approach thischallenge. Taiwan’s efforts, for example,
arose in large part from patient advocacy.
Accordingly they support a broader range ofpatient social and medical needs than many.
The flip side seems to be a more restrictive
definition of which diseases qualify
for support.
According to a survey of clinicians conducted
for this study, various forms of genetic
testing for rare diseases are used frequently
in several Asia-Pacific countries. Japan,
however, has lower levels of neonatal
screening and a greater tendency to focus
on testing the relatives of those diagnosed
with such conditions. The latter is calledcascade screening. Takeya Adachi of theJapanese Agency for Medical Research andDevelopment (AMED) suggests that this may
reflect how SMON was a predominantly adultcondition, while in other countries paediatricgenetic disorders were a bigger early focus of
the rare disease field [see Figure 1].

© The Economist Intelligence Unit Limited 202010

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificFigure 1

Survey responses for frequency of rare disease screening techniques used in five Asia-Pacific markets.
Cascade screening

Neonatal screening

Other

Don’t know

Prenatal screening

9.7%

Risk-based screening

51.5%
50.5%
56.3%

Australia
0.0%

19.4%
43.0%

China

51.0%

2.0%

70.0%
66.0%

9.0%
14.0%

Japan

39.0%

21.0%

3.0%

26.0%
37.0%

15.0%
South Korea
11.0%

25.0%
20.0%
19.0%
41.0%

7.0%
Taiwan
6.0%

53.0%

27.0%

66.0%

17.0%

0.0%

The apparent simplicity of the term“rare disease” has proved deceptive andinterpretations vary widely. Any plausible
definition must grapple with what is rareenough to fall into this group. Our survey
respondents agree. When asked whichelements should be included in a rare disease
policy, 94% thought some indication ofprevalence helped define the category—though no consensus existed on the actual
prevalence figure. Health policy-makers in ourstudy markets diverge further in setting

50.0%

100.0%

numerical boundaries between the common
and the rare:• For Australia, the only national figure
comes from its orphan drug regulations
which adopted the EU definition offive cases per 10,000 population in2017. Previously, the regulations set
the boundary at fewer than 2,000 total
cases across the country—about onefifth of the permitted prevalence in the
EU guidelines. 8

8 Australian Department of Health, Orphan drug designation eligibility criteria, 2018; Government of Australia, Therapeutic Goods Regulations 1990
(updated 1 January 2017), 2017.

© The Economist Intelligence Unit Limited 202011

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific• China has no formal definition, although
local medical experts generally accept acut-off of one per 10,000 population forneonatal diseases, and one in 500,000 forothers. Any numerical boundary
enshrined in policy would be largely moot,since epidemiological data are sparse.9• Since 2015 Japan has had two definitions
under its rare and intractable disease
policy. Any condition affecting fewer than
50,000 people in the country(roughly 3.9 per 10,000 population) falls
into this category. Also included aredisorders deemed to be intractableor difficult which affect up to 180,000
people (14.2 per 10,000).10• South Korea’s Rare Disease Management
Act defines these conditions as any
affecting fewer than 20,000 people in the
country (approximately 3.9 cases per
10,000). As a concession to the
pronounced data challenges in this field,
it also includes conditions “whose
number of carriers is unknown because
diagnosis [...] is difficult”.11• Taiwan does not have a number set
in regulation or law but authorises its
Review Committee for Rare Diseases andOrphan Drugs to set and regularly review
the target prevalence for its policies.
Since 2000, says Dr Chao-Chun Wu—
deputy director-general of the Health
Promotion Administration—any diseaseaffecting less than one person per 10,000
population is deemed rare.

The national variations do not reflectdisagreements over how to define some
objective medical attribute of “rarity”.
The world’s disease burden is more of acontinuum than a series of easily–
discernible, measurable categories. At one
end are a high number of low-prevalence
conditions. As prevalence rises, the numberof diseases decreases markedly. Even within
the rare disease category, the 4.2% mostcommon conditions account for roughly 80%
of all patients. The next most common 7%of the remaining disorders account for over
90% of those affected.12 As Japan’s looseningof its prevalence restrictions in 2015 shows,even diseases with a greater number of cases
may share the difficulties associated with lesscommon ones.
Prevalence is often an inappropriate
measure of burden. Dr Elliott explains that “notall rare diseases have a genetic origin.
We are interested in rare accidents, infections,adverse drug reactions as well. The wholeconcept needs to be extended”. Mr
Vines, comments that his organisation tends touse figures based on incidence because of thehigh fatality rate of rare cancers.
Instead, prevalence definitions reflect thenecessities of policy administration.
Decision-makers must know where andwhen to apply their resources. As a result,policy goals and resources greatly shapewhich diseases count as “rare”. Mr Tseng,believes this explains Taiwan’s more restrictive
prevalence limit than Australia’s.

9 Jiangjiang He et al., “China has officially released its first national list of rare diseases,” Intractable and Rare Diseases Research, 2018.
10 Pacific Bridge Medical, “Japan Orphan Drug Update 2017,” 2017; Economist Intelligence Unit calculations.
11 Korea Legislation Research Institute. Available at: http://elaw.klri.re.kr/eng_service/lawView.do?hseq=43655&lang=ENG
12 Stéphanie Wakap, “Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database,”European Journal of Human
Genetics, 2019; Economist Intelligence Unit calculations.
© The Economist Intelligence Unit Limited 202012

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

The latter comes from orphan drug regulation,
representing relatively little cost for agovernment. In Taiwan’s case, the number
is used to help shape how many people will
receive assistance, and this “correlates withthe budget,” Mr Tseng explains.
This link to policy also explains some of theadditional factors which go into rare diseasedefinitions. In Taiwan, for example, theyneed to be severe and difficult to diagnoseconditions, presumably because thoseaffected by easy-to-treat illnesses with little
impact on quality of life are unlikely to need
substantial state assistance. Similarly, Japan’srare disease policy has long included anemphasis on supporting patients andfamilies. Under its rules, Nan-Byo conditions(a Japanese portmanteau for rare andintractable disease) not only need to be rare
but also long-term and of indeterminablecause.13 In China, meanwhile, policymakers
look more narrowly at the possible
population benefits from existing medical
interventions. Its list of rare diseases
therefore focuses on relatively common
ones for which some treatment is available.14

The number of disorders recognised as“rare” by governments is much smaller thanOrphanet’s 6,172: in China it is 121, 4 Japan 333,5South Korea 927,6 and Taiwan 223 or 339.17
The higher number in South Korea may be
attributable to the fact that, unlike Taiwan
and Japan, it does not offer extensive social
support to patients and has a 10% co-pay fortreatment costs.
This does not mean that different national
definitions, especially among clinicians
and researchers, could not benefit
from convergence. Takeya Adachi ofJapan’s Agency for Medical Research andDevelopment notes that the International Rare
Diseases Research Consortium is trying tobring this about.
However, this is a complex undertaking
and a broader consensus that covers all
fields is unlikely to come about soon. As Mr
Tseng explains, “the definition depends on
with whom we are communicating, such asreporters, scientists, health system staff,
industry, or government officials. Each havedifferent concepts regarding rare disease.”

The Chinese example shows that prevalenceand other criteria are more often guidelines
for officials than formal rules. In China,
Japan, South Korea, and Taiwan, patients’conditions must be recognised as “rare” by
the state if they are to benefit from relevant
health and welfare policies. In that sense,
whether a condition is “rare” ultimately
depends on whether officials say that it is.

13 Mitsuko Ushikubo, “Palliative Care in Japan for Individuals with Amyotrophic Lateral Sclerosis,” in Marco Cascella, ed., Highlights on Several
Underestimated Topics in Palliative Care, 2017.
14 Jiangjiang He et al., “China has officially released its first national list of rare diseases,” Intractable and Rare Diseases Research, 2018.
15 Japan Intractable Diseases Information Centre, web page accessed 15 January 2020.
16 “Government to subsidize treatment of 100 rare diseases,” The Korea Herald, 4 December 2018.
17 For an explanation of the Taiwanese number, see Box 3.
© The Economist Intelligence Unit Limited 202013

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificBox 1: Which diseases count?
Common definitions allow for coherent
discussion. According to our survey
respondents, they also have a vital role inaddressing various issues related to rarediseases. On average, those surveyed

consider a unified definition of rare disease
as somewhere between “very” and “most”
important to facilitate diagnosis, treatment,
and data gathering, and even societal
understanding of these disorders [Figure 2].

Figure 2

Survey respondents ranking of importance for elements of rare disease defintions
1 least important

2

3

4

5 most important

Don’t know

Diagnosis
0%2% 8%

37%

53%

0%

Development of new diagnostic tools
1% 2%

14%

47%

36%

1%

41%

42%

1%

41%

37%

1%

30%

1%

Development of new treatments
1% 4%

11%

Access and reimbursement for medicines
1% 3%

17%

Societal understanding and acceptance
2% 5%

17%

46%

Collection of academically robust information
1% 2%
0%

19%
10%

48%
20%

30%

40%

29%
50%

60%

70%

80%

1%
90%

100%

© The Economist Intelligence Unit Limited 202014

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificInconsistent care quality
The most striking finding from our survey is
how often care for those with a rare disease
falls short. Respondents estimate that on
average only around a third (33%) of theirpatients receive the best evidence-based care.
Various factors make such treatment unlikely
to be available [Figure 3].
Similarly, on a scale of 1 to 5, respondents
ranked how effective their health systems arein addressing different aspects of rare diseasediagnosis and management. The average
results for speed of diagnosis, initiation oftreatment and overall quality of care fell
between 3.4 and 3.7. In other words, healthcare providers are more likely to say that thosewith rare diseases are receiving adequate, but
not excellent, care [Figure 4].

In some cases, even these survey results
may present an overoptimistic picture.
On average, respondents from China give theirhealth system the highest grades for speed
and quality of any in the survey. However,Dong Dong—research assistant professor at
the Chinese University of Hong Kong—reportsthat her own detailed surveys of clinicians in
the country suggest that “Chinese doctors’knowledge about rare diseases is not as
good as they think. They are very confident,
but there is misunderstanding andincorrect treatment”.

Figure 3

Survey responses reporting average proportion of patients managed with the optimal to sub-optimal carein five Asia-Pacific markets.
Managed with the best evidence-based care
Not managed with the best evidence-based care due to lack of clinical practice guidelines
Not managed with the best evidence-based care due to lack of regulatory approval of medicine
Not managed with the best evidence-based care due to lack of funding for testing/treatment
Not managed with the best evidence-based care for other reasonsTaiwan
38.2%

19.1%

14.3%

14.1%

14.3%

South Korea
28.5%

24.0%

14.8%

16.0%

16.7%

18.3%

14.1%

Japan
24.8%

23.8%

23.7%

22.4%

19.0%

China
17.4%

19.6%

16.9%

Australia
42.6%
0%

10%

20%

19.9%
30%

40%

50%

12.9%
60%

70%

15.7%
80%

8.8%
90%

100%

© The Economist Intelligence Unit Limited 202015

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificFigure 4

Survey responses showing healthcare practitioners rating of their healthcare system’s efficiency inmanaging rare diseases.
1 least efficient

2

3

4

5 most efficient

Don’t know

Arriving at the correct diagnosis
2%

9%

25%

40%

23%

1%

Speed of diagnosis
3%

14%

29%

38%

13%

2%

35%

17%

2%

35%

16%

3%

20%

1%

16%

2%

90%

100%

Initiation of care
3%

11%

32%

Cost of care to patient
5%

15%

26%

Quality of care
1% 7%

23%

46%

Providing social care
4%

16%

0%

10%

29%
20%

30%

33%
40%

Only around a third of survey
respondents’ patients received thebest evidence-based care
Generalisations can obscure as much as
they reveal. In Japan, for example, Dr Adachi
sees a marked difference between the morecommon rare diseases and those which are
relatively scarce. Patients living with theformer tend to benefit from rare disease
policies and programmes. They often obtainvery good treatment. Those whose conditions
are not recognised Nan-Byo diseases are more
likely to receive only adequate care. Similarly,
paediatrician Dr Elliott says that in Australia“some children get excellent care, others get
adequate care, and some fall between thecracks. It is partly dependent on where you
live. Children in rural and remote settings have

50%

60%

70%

80%

poor access to services and are more likely topresent late”.
It also depends on the extent to which healthsystems are able to address the frequently
multi-faceted needs of rare disease patients.
“The largest problem is fragmentation of care,”says Mr Vijayendran. “We are all looking atdifferent parts of the equation. Why don’t
we approach this from a multi-disciplinary
perspective?” Dr Bellgard agrees. He notesthat that clinical centres of excellence withmultiple experts can provide very good care.
He cites as exemplars those dedicated totreating Fabry disease and Motor Neurone
disease in Australia. Conversely, if thecondition is unrecognised, individual clinicians
isolated in general health systems will not do
as well.
© The Economist Intelligence Unit Limited 202016

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Limited knowledge and experience“There is just not enough clinical knowledgeof rare disease,” says Dr Bellgard. “That is theroot challenge.”
Our survey results bear this out. When asked
to rank their colleagues’ knowledge of raredisease on a scale from 1 (very poor) to 5 (verygood), respondents expressed only middlingconfidence. On average, they gave peers ascore of just 3.1. Taking out the perhaps overconfident Chinese answers, the average drops
to slightly closer to “poor” than to “good” (2.9).
Even among specialists, only 28% think that
their fellow experts have “good” or “very good”
knowledge of this field (4 or 5).

Only 28% of specialist respondents
think their fellow experts havesufficient knowledge of rare diseases
Results from other survey queries indicatethat this assessment may be well-deserved.
For example, 34% of respondents areunaware of whether a unified definition of“rare disease” exists in their health system.
Similarly, 35% do not know if a rare disease
policy exists, which would presumably affecttheir understanding of what the healthsystem could offer patients.
Despite the importance of patient groups inhelping to support those with a rare disease,
44% of respondents are unaware whether
such organisations exist in their jurisdiction.
A further 12% incorrectly believe that they
do not.

44% of survey respondents are notaware of patient organisations and
12% incorrectly report they don’t
exist in their jurisdiction
Failure to know about these groups canhave a direct impact on quality of patientcare. Dr Gareth Baynam, a clinical geneticist
and director of the Undiagnosed Diseases
Program in the Genetic Services of Western
Australia, notes that “the patient voice,advocacy groups, and those representing
the rare disease community are the mosteffective determinant of change” within
health systems.
These survey responses are consistent
with our interviewees’ experience. As Dr
Jiaan-Der Wang—director of the Centre for
Rare Diseases and Haemophilia at Taichung
Veterans General Hospital—explains: “Lowlevels of knowledge about rare disease among
medical personnel are common worldwide,
not only in the Asia-Pacific region.”
A 2017 survey of Australian paediatricians
showed that less than half believed that rarediseases were adequately covered during
medical training and 28% felt unprepared
to treat such patients.18 “The bottom line,”says Dr Elliott, whose APSU conducted theresearch, “is that doctors feel inadequately
skilled and want more knowledge
and resources”.

18 Yvonne Zurynski, et al., “Rare disease: A national survey of paediatricians’ experiences and needs,” BMJ Paediatrics Open, 2017.

© The Economist Intelligence Unit Limited 202017

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Similarly, in 2018 Ms Dong helped to conduct
a survey of several hundred Chinese hospital
doctors. These were originally sourced via
rare disease patient groups and as a group
had much greater medical education levels
and years of experience than doctors in the
country overall. Nevertheless, Ms Dong foundthat only 24% of these claimed to have agood knowledge of rare diseases”. The patient
experience in the country suggests that thesefindings are no fluke. Yi’ou Wang observes that
“doctors who can accurately diagnose andtreat rare diseases in China are themselves still
relatively rare”.
One obvious reason for this limited knowledge
among clinicians is, in Dr Misawa’s words, “theoverwhelmingly few cases encountered indaily practice”. Our survey reveals substantial
variance in the frequency with which medical
personnel see new presentations: 13% see
more than one new rare disease case permonth, but 14% (including 10% of specialists)
report never having seen a rare disease patientin their entire career. Overall, the median rateis one new case per year.

When asked which rare diseases they had
treated, our 503 respondents came up with
305 separate disorders. For 189 of these,
just one clinician reported a case. The mostoften reported conditions among these rarediseases were those affecting the nervous
systems (eg amyotrophic lateral sclerosis,
multiple sclerosis), eyes or skin (eg albinism)and blood (eg haemophilia).
Finally, as one survey participant told us,
knowledge of the disease in question issometimes of limited relevance: “As a GP,
most of my experience in this regard isseeing a patient who is under the care of an
appropriate specialist for a rare disease,but for an unrelated reason.” However
infrequently an individual clinician sees a raredisease, they need to be better-informed if
health systems are to more effectively addressthese conditions as a whole. Dr Baynamexplains that “the biggest global barrier tobetter diagnosis and treatment is the lack ofawareness of the possibility of rare disease”
when a new case presents.

Making the necessary knowledge
available at the right time

14% of survey respondents—including
10% of specialists—report never
having seen a rare disease patient intheir entire career
Given the thousands of disorders falling into
the rare disease group, a doctor or nurse who
encounters the average one case per year may
see only a handful with any clinical similarity
across an entire career. Nor are theseclinicians necessarily going to have experience
with the same conditions as their peers.

How can health systems give busy clinicians
relevant information on a specific rare condition
when needed? Improved basic education on
the general issues around rare disease is anecessary start. Mr Tseng explains that the
topic receives insufficient emphasis in formal
medical education. Dr Baynam agrees that“the complete lack of a cohesive response inmany medical curricula is striking”. Several
interviewees also mention the potential benefitof making training available within continuing
clinical education programmes as a “shortcut”—
Dr Misawa’s word—to more widespread
understanding among medical professionals.

© The Economist Intelligence Unit Limited 202018

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificEven so, education and training on rarediseases in general can go only so far. “Youhave to be realistic,” Dr Bellgard says. “You
can’t be a specialist in everything, and it
would be almost impossible for even one
jurisdiction to have one expert for each of
the 7,000 rare diseases.” He notes that the
APEC Rare Disease Action Plan therefore
encourages governments to audit existing
clinical skills across the entire health systembefore developing referral schemes and otherways to plug knowledge gaps. The latter mightwell include co-operation with experts andspecialist centres based in other jurisdictions.
Several experts also put hope in the potential
of information technology to assist. For
example, test results within electronic healthrecords could flag up when a given raredisease might be an issue for the patient.
Dr Baynam explains that this is “a key
opportunity to provide on-the-go education
to the clinician that is relevant to the patientat the time”. Similarly, Yukiko Nishimura—founder and president of NPO ASrid (theAdvocacy Service for Rare and Intractable
Diseases’ Multi-Stakeholders in Japan),a group which acts as an intermediary
between patients and other actors in the areaof rare disease—argues that “clinicians do notknow every rare disease. For conditions wherea definitive diagnosis can be derived from,say, image data, it is possible to make early
detection and an early definitive diagnosis
using information technology”.

into in order to determine evidence-based
approaches,” comments Mr Vijayendran.
As a result, on average our respondents rank
the gathering of epidemiological data as a“very important” element of any raredisease policy (score of 4 on a scale of
1=least important to 5=most important).
The necessary work is just now beginning.
Only within the last few years have specificcodes for rare diseases been included within
the International Classification of Disease
framework, allowing general insurance andhealth systems to accurately record thebasics of diagnosis and treatment for these
conditions. Dr Baynam stresses the potential
importance of this development. “The single
most important thing for sustainable healthsystem interventions is rare disease coding
in health data sets. We need to make thesepatients visible in health systems.”
Ultimately, more widespread use of detailed
disease registries—rather than analysis ofgeneral insurance and medical records—
will need to undergird data-informed tools
for clinicians. Work here is also underway:
Rare Voices Australia is pushing for an
integrated registration strategy;19 China healthauthorities are working on a National Rare
Diseases Registry System which is projected tocover 50 conditions by 2020;20 and AMED has
begun the Rare Disease Data Registry of Japan(RADDAR-J) project which involves
encouraging researchers to create individual
disease registries (see Box 2)21

Before such technology can be effective,
health systems will need to address “thelack of patient data to meaningfully incise

19 Paul Lacaze et al., “Rare disease registries: a call to action,” Internal Medicine Journal, 2017.
20 Peipei Song et al., “Innovative measures to combat rare diseases in China,” Intractable & Rare Diseases Research, 2017.
21 Yoshihiko Furusawa et al., “National platform for Rare Diseases Data Registry of Japan,” Learning Health Systems, 2019.

© The Economist Intelligence Unit Limited 202019

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificEven detailed national registries will often
not be enough because of what Dr Adachi
describes as the “n=1 problem”. Data analysis
cannot say much when based on a single
person—or at most a few people—with any
given disorder. Greater aggregation of data isan essential next step.
Achieving this will require substantial effort.
Dr Bellgard explains that, even setting
aside the regulatory and privacy issues ofinternational data sharing, information in
health systems is typically generated for asingle purpose rather than being amenable tomultiple uses. The value of combining clinicalnotes, patient-reported outcomes, research
results and medical insurance data—to namebut a few—from any number of countries
is huge, especially in a field where good

information is so sorely lacking. Accordingly,“we have to be in the business of building
global registries,” Dr Bellgard says.
He and his colleagues recently publisheda conceptual framework for a raredisease registry and analytics platform
which recognises the variety of potential
information inputs and provides multiple
kinds of analysis, from treatment researchand development to clinical decision
support. 22 This will be a long-term goal.
For now, APEC’s Rare Disease Action Planencourages member economies to cometo a consensus on the best way to manage
and store patient data so that it can be
multipurpose and to develop the technicaland legal infrastructure needed to use andshare it internationally. 23

Box 2: Efforts to improve diagnosis in South Korea and Japan
South Korea and Japan provide notable
examples of undiagnosed diseaseprogrammes. Rather than creating
traditional, single-location one-stop shops,
information technology is used to connect awide network of expert clinicians and sharecutting-edge data tools.
In 2017, the South Korea Ministry of
Health and Welfare released a 2017-2021
road map for the diagnosis, treatment
and management of rare diseases. This
comprises four strategies around building
an evidence base, establishing a basis
for diagnosis and treatment, expanding
diagnosis and treatment support, andstrengthening R&D. As a first step, theKorean Undiagnosed Disease Programme(KUDP) began as a small pilot project with
under 100 patients in 2017. An expert, multidisciplinary consortium of paediatric andadult medical specialists (based at a total of
six institutions) collectively considered eachnew case. Any patients for whom referees
had provided insufficient information had
to be dropped. The others were divided into
three categories: those who were probably
undiagnosed due to a lack of clinicalawareness on the part of their originalphysicians; those who were diagnosed
but unconfirmed because of genetic
abnormalities; and those with an unknown
condition. Overall, the consortium—collaborating with international experts—

22 Matthew Bellgard et al., “RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework,” Orphanet
Journal of Rare Diseases, 2019.
23 APEC, Action Plan on Rare Diseases, 2018.

© The Economist Intelligence Unit Limited 202020

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacificdetermined definitive diagnoses for 39% of
all tested individuals. The pilot team evendiscovered one new disorder.24
The government is expanding the
programme as part of a wider improvementin rare disease care. The number of centres
treating these conditions was to increase
from the four in 2018 to 12 by March 2020.
Younjhin Ahn of the Division of Rare
Diseases at the Korean National Instituteof Health Centre for Biomedical Sciences,
reports that the KUDP will seek out referrals
of difficult cases from these centres.
They will also continue “creating andpromoting programmes that support
diagnosis, so that patients do not get missedin the healthcare system”. The goal is to beable to diagnose any known disease within
one year.
The Japanese Initiative on Rare andUndiagnosed Diseases (IRUD), establishedin 2015, has reached a broader scale.
Patients at primary care clinics who go
undiagnosed for six months, and whose
conditions seem to be genetic, are referred
to one of more than 400 IRUD partner
hospitals. There, multi-disciplinary IRUD
diagnosis committees review each case.
Any successful diagnosis is thencommunicated back to the referring
primary care clinic where, ideally, thepatient receives genetic counselling and,if available, treatment.25 As of mid-2018, IRUD
has helped confirm more than 1,000
diagnoses, with a success rate of 37%.
It has also identified 18 new diseases.25

Although a higher frequency of diagnosis
is clearly desirable, the estimated numberof undiagnosed cases of rare disease inJapan is just over 37,000.26 Thus, even thisincomplete progress as the programme
finds its feet has made a small dent in theoverall problem.
The next phase of the project, IRUD
Beyond, aims to improve the diagnosis
rate, increase international data sharing onrare disease and use the genetic insightsfrom the diagnosis of particular conditions
to inform research on treatments. So far,nine candidates have been identified forfurther study.
Dr Adachi, who has been closely involved with
IRUD, notes two particular lessons from theinitiative. One is the need to find a way to“promote and incentivise collaboration,” inparticular data sharing by patients and small
hospitals. As a first step, IRUD has introduced
what it calls “micro-attribution”, and has
created the IRUD Exchange database whichmakes visible where data on its systems hascome from.
The other is that, while acknowledging
the individuals behind data sources, thesekinds of programmes show how important
it is to think big. “Global data sharing isessential to improved diagnosis,” Dr Adachi
explains. Both IRUD and KUDP work withresearchers overseas when encountering
low-frequency or unrecognised disorders.
Progress is simply impossible unless
information from every case can be
aggregated and examined together.

24 Soo Yeon Kim et al., “The Korean undiagnosed diseases program: lessons from a one-year pilot project,” Orphanet Journal of Rare Diseases, 201925 “Meeting to fast track progress on rare disease research,” Nanbyo Research from Japan (web site), 15 March 2019.

26 Takeya Adachi et al., “Survey on patients with undiagnosed diseases in Japan,” Orphanet Journal of Rare Diseases, 2018.

© The Economist Intelligence Unit Limited 202021

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificSection III. Prioritising the
response in Asia-Pacific
The difficulties in providing those livingwith rare diseases the care and services
they need are numerous. In our study,
medical professionals were asked about how
frequently 18 different issues posed problems
in this field. The scale used was from 1(meaning “never a difficulty”) to 5 (“always achallenge”). For every issue covered,
the average response was well over 3,
indicating that they created difficulties more
often than not [Figure 5].

Survey respondents found all 18
elements of care covered in our
survey to be difficulties more often
than not, and the biggest problem
was diagnosis.
Our survey responses and further research
indicate that three main challenges must
be prioritised.

Difficulties in diagnosis
Among the 18 issues covered in our survey,
respondents highlighted something
fundamental as the greatest challenge:
obtaining a correct diagnosis. The problem is
not just identifying the right condition, but
doing so with reasonable speed. Respondents
also believe this issue requires immediate
attention: they ranked diagnosis ofconditions, combined with their
management, as the top priorities fornational rare disease policies to address.

The concerns in this area should come as no
surprise. Data from the US put the averagetime between the onset of symptoms andaccurate diagnosis of a rare disease at 4.8
years.27 The situation in Asia-Pacific is no
better. In Australia, data from a survey ofadults with rare diseases published in 2016indicate that their average time to diagnosis
was 4.7 years, with an average of five different
doctors consulted during that time. Just as
important as these averages is the variety
of experience. Nearly half of patients had adiagnosis within a year, but for 10% it took
more than 20 years.28 Ms Dong reports asimilar range from her surveys of Chinese raredisease patients.
The delays have clear disease management
implications, notes Dr Baynam. “Diagnosis
is the portal to the best medical care andwhere we currently have the greatest
opportunity to transform patients’ lives atscale.” The damage arising from delay anderror often goes beyond the purely medical.
Mr Vijayendran says that, in many cases,for patients and families “the big questionsare ‘what is happening and why?’ These are
deeper, philosophical and psycho-social
issues that are deeply personal for eachpatient and their family members. It canbe difficult to begin coping, adjusting andmoving forward until a proper diagnosis
allows people to stop asking ‘why’ in this way.”

27 Patti Engel et al., “Physician and Patient Perceptions Regarding Physician Training in Rare Diseases,” Journal of Rare Disorders, 2013.

28 Economist Intelligence Unit calculations based on Caron Molster et al., “Survey of healthcare experiences of Australian adults living with rarediseases,” Orphanet Journal of Rare Diseases, 2016.

© The Economist Intelligence Unit Limited 202022

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificFigure 5

Survey responses reporting frequency of difficulty experienced in 18 areas of providing rare disease care.
1 never2

3

Availability of information
3%

11%

Correct diagnosis
2% 8%

5 always

40%

13%

25%

Speed of approval of relevant drugs
5%

12%

8%

23%

14%

Funding for treatment
5%

15%

Availability of specialist staff
3%

15%

4%

21%

2%

37%

20%

4%

18%

4%

30%

20%

4%

23%

34%

23%

2%

20%

2%

25%

13%

11%

36%

34%

15%

Patient group support

33%

31%
33%

Pharmaceutical medical society support
6%

13%

32%

Government support
5%

11%

2%

22%

Organizational support
6%

0%

28%

26%

Defined referral pathways
6%

16%

38%

20%

Funding for diagnosis

N/A

32%

Access to medicines
5%

4

15%

2%

34%

15%

3%

11%

5%

33%

31%

Professional medical society support

33%

29%

20%

4%

6%

15%

30%

34%

12%

3%

5%

15%

33%

31%

14%

2%

Inter-hospital cooperation
International cooperation
6%

16%

30%

Communicating with patients
4%

14%

31%

General population knowledge
7%

25%

14%

11%

0%

10%

23%

25%
20%

30%

10%

37%

Access to ongoing professional training
5%

12%

40%

50%

14%

1%

31%

22%

2%

36%

20%

3%

60%

70%

80%

90%

100%

© The Economist Intelligence Unit Limited 202023

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

An obvious barrier to effectiveness in thisarea is that no reliable test exists to identify
many of the more than 6,000 known rarediseases in the world. That said, Dr Baynamestimates that existing tools could still allow
the accurate diagnosis for about half of thoseliving with such disorders in Western Australia,
the region he knows best. “Improvements arecertainly needed for the other half, but thebiggest challenge today is getting those who are
diagnosable tested. Currently, the road to doing
so is a rocky one, or many times has not evenyet been made.” Both South Korea and Japan
have taken the first steps in that direction, inparticular for the large number of rare genetic
conditions. Their experience already showsthat much can be achieved through such an
approach [see Box 3].

The broader financial burden
The costs arising from living with a raredisease, or caring for someone who does,
are substantial. Our survey respondents put
funding of diagnosis and of treatment as thesecond and third most important elements ofnational rare disease policies. More striking,when we asked respondents to name the one
action that would most improve the lives of
those affected by rare diseases in theircountry or territory, 47% mentioned
something related—either directly or
indirectly—to financial support. That was by
far the most common theme.

47% of survey respondents citedimproving financial support as the
single action that could most improve
the lives of those living withrare diseases

The specific financial challenges often vary bycountry. Yi’ou Wang explains that, whatever
the hopes that medical insurance may soon
cover the health costs of rare disorders,currently “Chinese patients do have a heavy
financial burden, with the vast majority of rarediseases not covered by medical insurance
except by some local policies.” Ms Dong adds
that medication and treatment are only part ofthe broader economic challenge for Chinesepatients. They “often need to travel a long way
to get diagnosis and treatment,” she explains,which some just cannot afford. She notes thatseveral patients dropped out of a programmethat promised to provide a new medicine fora specific rare disease at no charge. To stay inthe programme, patients had to go to one of
the seven designated hospitals in five cities
in-person to pick up the drugs, three times
a year, in addition to a mandatory annual
examination. The cost of these trips alone put
the scheme beyond the reach of some.
In more economically developed countries,
health systems typically pay for effective
medication—although not for every
condition. South Korea, Taiwan, and Japan
have programmes that cover these costs fora set list of rare diseases. Each has also been
expanding the number of specific conditions
covered, and Taiwan allows doctors to apply
for new ones to be added. Nevertheless, it ispossible to fall through the cracks. Dr Misawa
explains that, although the Japanese list grewsignificantly in 2015, “due to limited budgets,patients with mild conditions have been
excluded from the programme, subsidies
for medical expenses have been reduced,
and some of the responsibility for medical
expenses has been transferred from thenational government to local authorities.
In addition, there is still a feeling of unfairness
among patients whose diseases are notyet covered.”© The Economist Intelligence Unit Limited 202024

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Australia does not have a specific list of rarediseases for which it supports treatment but
has a Life Saving Drugs Programme. This
currently funds 16 expensive medicines thatare demonstrated to improve survival for
10 very rare, life-threatening conditions, but
are not subsidised through regular channels.
Non-medical costs can also be substantial.
Dr Elliott reports that the parents of all raredisease paediatric cases report huge out-ofpocket expenses. “Things like time lost fromwork caring for kids, appliances that children
might need, some of which are covered bygovernment but others not. Many patientsrequire time in hospital and travel to different
specialist clinics which are not co-ordinated,necessitating multiple trips.”
Dr Elliott adds that various initiatives exist which
can help. A new Australian National Disability
Insurance Scheme allows doctors to support
applications for funding of various services,
including respite care and special education.
Similarly, the increasing use of tele-medicine
should reduce the dislocation and cost of
travel, especially for those living in rural andremote areas. Meanwhile, in partnership with
the Korean Organisation for Rare Diseases, theKorean Ministry of Health and Welfare provides
free accommodation to certain rare disease
patients who need to travel to Seoul for expert
medical care.
Making progress here is more than goodpatient support, believes Mr Tseng. It isa moral imperative. “Rare disease is a
public, rather than an individual, issue. The
occurrence of a rare disease is a random
error which could have happened with eachbirth. Without government involvement orassistance, the large social and medical costs
are unpredictable, and the supply-demandmarket model will be useless in meeting them.”
Taiwan’s provision for those living with rarediseases provides an interesting example ofefforts to meet this need [see Box 3].
29 APEC, Action Plan on Rare Diseases, 2018.

Looking at the person beyond
the disease
When asked about how well their territory
does on different kinds of provision for
those living with rare disease, on average
respondents said that they did worst at
supporting quality of life, autonomy and rights(3.4 on a scale of 1 to 5).

Supporting quality of life, autonomy
and rights was the weakest aspectof care provision according tosurvey respondents
Quality-of-life related services, including
social care, education and employment, are
an integral part of the support that manyliving with rare disorders need. Indeed,
94% of rare conditions have no approved
medical treatment.29 Non-medical services
are therefore of more immediate use thanpotential future treatments which may
never exist.
Rare disease policies “can never be complete
without a holistic acknowledgement ofcondition-related challenges,” Ms Jain
explains. “Systems may be able to deliver
healthcare, but unless patients are able
to access services that facilitate mobility,
education, employment, and social
integration, those health policies will beincomplete. For example, if you give raredisease patients healthcare but no access totailored transportation, those patients arestill imprisoned.” Dr Baynam agrees on themagnitude of this issue. “If you think about
health, education, disability, employment: any
response needs to touch on those in a coordinated way.”© The Economist Intelligence Unit Limited 202025

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

Where social assistance is lacking, theproblems for those living with a raredisease can be extensive. They also havethe potential to overlap with and further
complicate the financial issues discussed
above. In China, for example, a 2016 survey
found that over 90% of those with a raredisease could not make enough money tocover their cost of living. They also hadconstrained lifestyles: more than 70%
socialised with family or friends just a few
times per year at most.30 As Ms Dong says,“it is relatively easy to solve the medical
burden, but disease-related non-medical
expenses and barriers to education andemployment have largely been ignored”.
Australia fares better than China but still
falls short. In a recent survey, 82% of thosewith rare diseases reported having nonmedical care needs arising from disability. Of
these, 70% said that they did not have thoseneeds fully met under the country’s National
Disability Insurance Scheme.31
In seeking to address the broader
requirements of people living with rare
conditions, Mr Vijayendran highlights“the absence of credible Asia-centricresearch and intelligence on the psycho
social needs of patients challenged by rarediseases, especially Asian data. A goodstarting point would be data aggregation
anonymised patient registries with sufficientconfidentiality and data privacy safeguards.
We should not just stop there however, but
go further into a deeper understanding ofpatient narratives.”
Even in the absence of extensive data, somepositive steps are clearly possible, and theseneed not be isolated initiatives. Taiwan
shows just how comprehensive they can be[see Box 3].

Box 3: Taiwan’s comprehensive approach
In the rare disease field, Gregory
Vijayendran—chair of Rainbow AcrossBorders, an Asia-Pacific Rare disease
patient umbrella group—observes that
“Taiwan stands out; its orphan drug
legislation is really quite gutsy”. The
foundation of Taiwan’s approach to raredisease care is its Rare Disease and Orphan
Drugs Act, passed in 2000, though this is
not so much a comprehensive law in itself.
Instead, says Chao-Chun Wu, deputy
director-general of Taiwan’s Health
Promotion Administration, it sets out the“legal protections to the basic healthcare

rights of rare disease patients”. Ten further
laws amplify and put those protections into
practice. Min-Chieh Tseng, co-founder of
the Taiwan Foundation for Rare Diseases,
adds that a particularly useful aspect of theact is its “focus on patients’ privileges rather
than simply orphan drug development”.
Taiwan’s policies certainly do not ignore
the medical side of the issue. To begin with,they seek to give health systems the tools
to care for those living with rare diseases in
multiple ways.

30 Dong Dong and Yiou Wang, “Challenges of rare diseases in China,” Lancet, 2016.

31 The McKell Institute, Disability & Rare Disease: Towards Person Centred Care for Australians with Rare Diseases, 2019.

© The Economist Intelligence Unit Limited 202026

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

To cite a few examples: relevant medical
school courses, seek to include the topic,
as do ongoing professional education
programmes; the government has approved
13 genetic and rare disease genetic testing
facilities and 14 genetic consultation centres;
and regulations have streamlined theapproval and importation of orphan drugs,
including by exempting the need for further
testing of medications approved by any of
the top ten pharmaceutical markets.
Under Taiwan’s universal National Health
Insurance (NHI), recognised rare diseases
are collectively categorised as catastrophic
conditions. This means that co-payments
are not needed for treatments normallycovered by the NHI. Certain interventions
not usually paid for by NHI—such as
domestic diagnostic testing, home medical
equipment rental, and emergency
medication—are fully covered for low- andmiddle-income individuals. Those withhigher incomes have only a 20% co-pay.
Tests which need to occur in foreigncountries have the same kind of coverage if
approved by the Rare Diseases Board,says Dr Wu.
Finally, meeting the social needs of thoseliving with rare diseases has long been a
Taiwanese policy goal. Mr Tseng reports
that, those with such disorders
have been eligible to be registered as
disabled since 2001. This status opens up
access to certain subsidy and pension
benefits, and employment rights.

Recently, the government decided thatgeneric disability status was insufficient forthe diverse needs of those living with rare
conditions. In December 2017, it introduced
the Rare Diseases and Rare Genetic
Disorders Care and Services Plan, andLong-Term Care Plan to provide
individualised psycho-social support andassistance for education.
But no system is perfect. Mr Tseng, forexample, reports that multi-disciplinary
care is impeded by the spread of relevant
experts across hospital departments.
While doctors who find a patient with an
unregistered rare disease are able to apply
for its inclusion, this is not straightforward.
Dr Jiaan-Der Wang, Director of the Centre
for Rare Diseases and Haemophilia at
Taichung Veterans General Hospital, reportsthat “the application process is complicatedand time-consuming. Most physicians giveup unless they receive outside support”.
A final issue is that Taiwan’s range ofbenefits apply only to those living with
an officially recognised rare disease.
The government’s list currently has just 223
conditions. Dr Wu points out that because
conditions are recognised by symptoms
rather than genetic markers, various list
entries include several conditions treatedas distinct by Orphanet. In total, Taiwanesepolicy covers 339 separate ICD-10 codes.
For those not on the list, in Dr Wang’s
opinion, the system still seems unfair
despite government consultation with
relevant stakeholders, including patients,
on how to allocate the limited funds.

© The Economist Intelligence Unit Limited 202027

Suffering in silence: Assessing rare diseaseawareness and management in Asia-PacificConclusions: Raising the profile
of rare diseases in Asia-PacificRare diseases are increasingly recognised asa substantial challenge facing Asia-Pacifichealth systems. Governments across theregion are initiating or strengthening policy
initiatives and expanding what these policies
cover. In doing so, they are addressing anoften overwhelming challenge—sometimesa largely unified problem, sometimes one
with anywhere from 6,000 to 7,000 individual
faces. A comprehensive response to thisdisease burden is complex and multi-faceted,
yet essential.
Our survey and research found a range ofrare disease issues for health systems in
Asia-Pacific:• Although examples of high-quality,
integrated, patient-centred practiceexist, too often care is adequate rather
than excellent.
• The necessary knowledge to treat rarediseases effectively is frequently lacking.
• Problems arise at almost every stepof the medical side of rare diseasecare, with diagnosis presenting
particular difficulties.
• The integrated social and financial caregenerally needed by those affected byrare disorders remains more aspiration
than reality.
These difficulties are real but should not
obscure the potential impact of continued
effort in this field, Dr Baynam notes. “As well

as challenges there are huge opportunities.
The scale of these for sustainable, high valuecare of rare diseases remains untapped.”
Important progress is already being made:• Different countries are starting togather the data for the information
systems and registries that can support
both the development of treatment
and clinical decision support.
• APEC is looking for ways to ensure
this is used to the greatest effect.
Programmes for undiagnosed rarediseases in Korea and Japan are
currently able to help a third of patients
who were previously likely to wait for
years before receiving a diagnosis.
• Taiwan sets a precedent bydemonstrating what a coherent policythat integrates the medical, financial,and social needs of rare disease
patients can look like.
Building on these initiatives is a necessity
rather than a choice. As Dr Ahn says of Korea,
policy changes and research advances meanthat “patients have increased their interest andthe voice of social demands is growing”. They
will expect the same kind of patient-centred,
integrated care that has become the goal
for non-communicable diseases of all kinds.
Achieving this will provide invaluable lessons
for all care across the board. As Dr Bellgard
explains, “if we can address rare disease
patient needs, we will have a better
health system”.

© The Economist Intelligence Unit Limited 202028

Suffering in silence: Assessing rare diseaseawareness and management in Asia-Pacific

While every effort has been taken to verify the accuracy of this information, The
Economist Intelligence Unit Ltd. cannot accept any responsibility or liability forreliance by any person on this report or any of the information, opinions or
conclusions set out in this report. The findings and views expressed in thereport do not necessarily reflect the views of the sponsor.
Cover image: Photo by Ryoji Iwata on Unsplash.
© The Economist Intelligence Unit Limited 2020

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