Suffering in silence: Assessing rare diseaseawareness and management in Japan

Suffering in silence: Assessing rare diseaseawareness and management in JapanIn November-December 2019, The Economist
Intelligence Unit surveyed 100 practising
healthcare professionals from Japan, as part ofan Asia-Pacific analysis of understanding andchallenges faced in managing rare diseases.

• Universal health insurance is provided
to all Japan residents through either
the National Health Insurance (NHI)
or Employees’ Health Insurance (EHI)
schemes. Co-pay for health services
is required.2

Our survey respondents from Japancomprised general practitioners or primarycare physicians (44%), specialist physicians(35%), nurses (6%) and pharmacists (14%).
The majority of respondents reported working
in private (64%) and public or teachinghealthcare institutions (16%).

• Japan has a high number of hospitalbeds, with an estimated 13.1 beds per
1,000 people. The number of doctors,
however, is low at 2.5 per 1,000 people
in 2018. Most medical institutions are
privately owned and paid via a mixed
flat day-rate and fee-for-service systemthat may encourage inpatient care.2Results in context: Japan’s
health system• Japan’s population was estimated tobe 126.8m in 2019.1 Life expectancy
in Japan was high at 84 years in 2018.
Infant mortality is low (2 deaths per
1,000 live births), however a declining
birth rate and increased longevity has
resulted in an ageing population that
already accounts for more than 50% of
healthcare costs. Non-communicablediseases provide the biggest mortality
burden (82% of all deaths). Of these,cancer (30%) and cardiovasculardiseases (27%) are the leading causesof death.2• Japan is the third-highest healthcare
spender, with 10.9% of GDP spenton healthcare in 2018 according toOECD figures. Government spending
accounted for 84.1% of total healthspending in 2018, with the remainder
financed by out-of-pocket spending or
private insurance.2

Prioritising rare disease:
Modernising a well-establishedhealth policy in Japan• Japan’s rare disease policies date back to
the 1970s, but in 2014 new legislation waspassed to assist those living with suchconditions. A year later Japan 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:o Despite this long history, only 38%
of our survey respondents correctly
identified that such a policy exists;
44% did not know, while 18%
incorrectly reported that there was nosuch national policy.
o When asked which elements arare disease policy should cover,respondents frequently reported
research funding and strategy

1 United Nations Population Division, World Population Prospects 2019. Estimates 1950–2020.
2 The Economist Intelligence Unit. Industry Report Healthcare Japan. 3rd Quarter 2019.

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Suffering in silence: Assessing rare diseaseawareness and management in Japan(including drug development),
dedicated regulatory pathways,funding for testing and treatment, andclinical diagnosis or management as
most important. Respondents also
recognised the importance of policy
to enshrine social, education andemployment rights for people withrare diseases.
• Japan has had two definitions under its
rare and intractable disease policy since2015. Any condition affecting fewer than
50,000 people in the country (roughly
3.9 per 10,000 population) falls into thiscategory. Also included are disorders
deemed to be intractable or difficult andaffecting up to 180,000 people (14.2
per 10,000).3

Figure 1

Knowledge of rare disease definitions among physiciansin Japan; Survey responses to the question “Is there a unified
definition of rare diseases in your market?”

100%

60%
44.0%
36.0%
20.0%

20%

0%
Yes

Some confidence in knowledge
among healthcare professionals• Japanese healthcare professionals
have only middling confidence in theirknowledge of rare diseases. Our survey
respondents reported an average scoreof 3.45 out of 5 on their own knowledge,
and 3.19 out of 5 for that of their peers.
• Among our survey respondents, 14%reported seeing a new rare disease
more than once a month, and 19% see a
new rare disease patient present morethan once every 6 months. In total,
15% reported never seeing a new raredisease patient present for care.

Defined pathways to diagnosis andovercoming challenges in delivering
rare disease care
• In Japan, 26.4% of our respondents
report that their rare disease patientsare currently managed with thebest-available care (Figure 2). Lack ofappropriate treatment guidelines andlack of approved medications were themost frequent reasons cited for why
care is not optimal in all cases.

80%

40%

• Only 44% of our survey respondents
were aware of Japan’s unified raredisease definition (Figure 1). Among
those who were aware, only around 50%
identified the correct prevalence andinclusion of difficulty in diagnosis andmanagement in the definition.

No

Don’t know

• The most frequently cited challenges
experienced by healthcare professionals
in managing rare diseases were:o Availability of information (56.4%
reported this as a challenge ‘nearlyalways’ or ‘always’).

3 Pacific Bridge Medical, “Japan Orphan Drug Update 2017,” 2017; Economist Intelligence Unit calculations.

© The Economist Intelligence Unit Limited 20202

Suffering in silence: Assessing rare diseaseawareness and management in Japan• Despite these challenges, our Japanese
respondents thought their health system
was more effective than any othermarket in terms of arriving at the correct
diagnosis, initiation of care, cost andproviding overall quality care.

o Reaching the correct diagnosis (65.9%
reported this as a challenge ‘nearly
always’ or ‘always’).
o Availability of specialist staff (58.8%
reported this as a challenge ‘nearly
always’ or ‘always’).
o Defined referral pathways (50.6%
reported this as a challenge ‘nearly
always’ or ‘always’).

• When our survey respondents wereasked about the one action that should
be taken to improve the lives of raredisease patients in Japan, the mostcommon responses were:o Communicating with patients (50.5%
reported this as a challenge ‘nearly
always’ or ‘always’).

o Improved education and awarenessof rare diseases.
o Patient support, social assistanceand creating a community aroundrare diseases.

o Patient group support (55.3%
reported this as a challenge ‘nearlyalways’ or ‘always’).

o Financial assistance.

Figure 2

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 20203

Suffering in silence: Assessing rare diseaseawareness and management in Japan• Japan established the Initiative on
Rare and Undiagnosed Diseases (IRUD)
in 2015. The research programme
provides a referral pathway to apanel of experts for patients who go
undiagnosed for six months and whose
conditions appear to be genetic.
IRUD is working to expand nationallyand increase international collaboration.

A bigger role for patientorganisations to play in Japan• Among our survey respondents fromJapan, 53% did not know if there was anactive rare disease patient organisation.
16% incorrectly responded that there
was no such organisation. Meanwhile,
55.3% of respondents reported that theyexperienced difficulty with patient groupsupport nearly always or always whendiagnosing and managing rare diseases.
• Despite this low awareness,healthcare professionals in Japan do
appear to recognise the potential ofpatient representation in the rarediseases space:o When considering stakeholders
who should be involved in designingcare pathways or packages for rarediseases, 77% of respondents fromJapan felt that patient involvement
was very or most important; 71% feltthat family member involvement wasvery or most important; and 47% feltthat patient organisation involvement
was very or most important.
• Among our respondents who were
aware of the work rare diseaseorganisations are doing in Japan,
development and provision of patient
education was highlighted as themost successful activity, but one
where more should be done. Our
respondents wanted to see morefrom patient organisations across all
activities, notably:o Providing screening or genetic
counselling services (67.7%of respondents).
o Participating in the design of carepathways (51.6% of participants).
o Input into research programmes andidentifying outcomes for research(61.3% and 64.5% of respondents
respectively).
o Input into budget distribution
decisions (61.3% of respondents).

While every effort has been taken to verify the accuracy of this information, The Economist Intelligence Unit Ltd. cannot accept any responsibility
or liability for reliance 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 the report do not necessarily reflect the views of the sponsor.
© The Economist Intelligence Unit Limited 20204