Suffering in silence: Assessing rare diseaseawareness and management in Australia

Suffering in silence: Assessing rare diseaseawareness and management in Australia
In November-December 2019, The
Economist Intelligence Unit surveyed 103
practising healthcare professionals fromAustralia, as part of an Asia-Pacific analysis
of understanding and challenges faced inmanaging rare diseases.
Our survey respondents from Australia
comprised general practitioners or primarycare physicians (45.5%), specialist physicians(34.2%), nurses (8.0%) and pharmacists (12.3%).
Respondents predominately worked in private(49.7%) and public or teaching healthcare
institutions (46.5%).

Results in context: Australia’s
health system• Australia’s population was estimatedto be 25.2m in 2019.1 The average life
expectancy was an estimated 82.8
years in 2018, projected to increase
to 83.6 years by 2023. Australia’s
population is ageing more slowly thanmany other OECD countries. This may
be attributed to high net immigration
and a plateau in the declining fertility
rate.2 Cancers, cardiovascular diseases,
chronic obstructive pulmonary
disease, Alzheimer’s and dementia
are the leading causes of deathamong Australians.
• According to OECD data, healthexpenditure was 9.3% of GDP in 2018,
and the government increased theallocation for healthcare, aged careand sport by 4.7% in the 2019/20 fiscal
year, to A$104bn. The taxpayer fundednational public healthcare system,
Medicare, covers residents for freehospital care and subsidises 85% of thecost of outpatient care. Total voluntary
spending accounted for 30.7% of healthexpenditure in 2018, and an estimated44.5% of the population have private
hospital insurance.2• There were 91,342 practising medicalpractitioners in 2016, with 11.5 nurses
and four medical practitioners for every
1,000 people. Australia has an estimated
3.7 hospital beds per 1,000 population,with 62,000 beds in public hospitals and34,300 beds in private hospitals.

Prioritising rare diseases: Early days
for coordinated health policyin Australia• The burden of rare diseases in Australia
is not well defined. A 2010 study basedon medical records in Western Australia
found that 2% of the total population
were admitted to hospital with a raredisease. The study notes that the true
burden of such conditions is likely
higher because data were available
for only 467 diseases. Moreover, anindeterminate number of people withsuch conditions might well not havebeen hospital inpatients in 2010, opting
instead for outpatient, primary care,or no medical services at all. The 2% ofWestern Australia’s population withsuch conditions accounted for 10% of
all hospital discharges and 11% of
hospital costs.3
Sponsored by:

1 United Nations Population Division, World Population Prospects 2019. Estimates 1950–2020.
2 The Economist Intelligence Unit. Industry Report Healthcare Australia. 3rd Quarter 2019.
3 Caroline Walker et al., “The collective impact of rare diseases in Western Australia,”
Genetics in Medicine 2017;19:546–552.
© The Economist Intelligence Unit Limited 20201

Suffering in silence: Assessing rare diseaseawareness and management in Australia• The definition of “rare disease” used inAustralia is five cases per 10,000 people,
as set out by the 2017 orphan drug
regulation (which itself adopted theEuropean definition). 4• Despite low awareness of Australia’s raredisease definition (Figure 1), our survey
respondents recognised the value ofsuch a definition, with over 80% saying
it is important or very important.
Respondents deemed the following
elements to be significant inany definition:• Australia does not have a specific list ofrare diseases for which it supports
treatment. Instead the government
uses a Life Saving Drugs Programme.
This currently funds 16 medicines thatare likely to improve survivability for 10
given conditions, but where data may
be insufficient to receive approval andsubsidies through regular channels.
• The Australian government launched
the country’s first National Strategic
Action Plan for Rare Diseases inFebruary 2020.

o A low prevalenceo Difficulty of diagnosiso Impact on quality of life or disabilityo Availability of treatment

Figure 1

Knowledge of rare disease definitions among physiciansin Australia. Responses to the question:” Is there a unified
definition of rare diseases in your market?

• Healthcare professionals in our survey
rated rare disease knowledge inAustralia as middling (an average of 2.98
for themselves and 2.84 for peers on ascale of 1 to 5).
• This may not be surprising as only 30%
of our survey respondents report seeing
a new rare disease patient more thanonce every 6 months; 40% see a newpatient once a year or more, and 8%
report never having seen a raredisease patient.

100%

80%

60%

54.4%

40%

20%

Low awareness andknowledge among Australian
healthcare professionals

22.3%

23.3%

Yes

No• A previous 2017 survey of Australianpaediatricians showed that, on average,
under half believed that rare diseases
were adequately covered during
different levels of medical training and
28% felt unprepared to treatsuch patients.50%
Don’t know

4 Australian Department of Health, Orphan drug designation eligibility criteria, 2018; Government of Australia, Therapeutic Goods Regulations 1990
(updated 1 January 2017), 2017.
5 Yvonne Zurynski, et al., “Rare disease: A national survey of paediatricians’ experiences and needs,” BMJ Paediatrics Open, 2017; 1:e000172.
© The Economist Intelligence Unit Limited 20202

Suffering in silence: Assessing rare diseaseawareness and management in Australia

Less than half of patients receive
the best available care andhealthcare professionals experience
multiple challenges in delivering
rare disease careo Reaching the correct diagnosis (23.2%
report this is always a challenge)o Speed of diagnosis (22.1% report thisis always a challenge)o Funding for treatment (20.0% report
this is always a challenge)• Respondents to our survey report thaton average 46.2% of cases are managedwith best evidence-based care, thehighest proportion found in ourresearch (Figure 2).

o Defined referral pathways (29.5%
report this is always a challenge)o General population knowledge (33.7%
report this is always a challenge)• Multiple areas were cited by our survey
respondents as a challenge indiagnosing and managing rare diseases,
most notably:o Access to ongoing professional
education (20.0% report this is alwaysa challenge)

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 Australia• Data from a 2016 survey of adults withrare diseases indicate that on average ittakes 4.7 years to receive a diagnosis,
with the mean number of doctors
consulted just over five. Nearly half ofrespondents (49%) had a diagnosis
within a year, but for 10% it took morethan 20 years.6• Despite this low visibility, Australian
healthcare professionals recognise thevalue of such groups and report wishing
to see more from them.

• When our survey respondents wereasked about the one action that should
be taken to improve the lives of raredisease patients in Australia, the mostcommon responses were:o More than 50% of respondents
thought that patient organisations
should play a bigger role in:o Increased awareness and education
for both physicians and thegeneral public
o Increased financial support fortreatment, management that
preserves patient function andpalliative careo Dedicated or defined clinicalcare pathways
o More research and data generation

Patient organisations are active,
but there is wide variability in theireffectiveness in reaching the full
healthcare communityo 87.4% ranked patients, and 51.5%
ranked patient groups as (very)
important when developing carepathways for rare diseases– Promoting disease awareness.
– Developing patient
education tools.
– Setting or designingresearch priorities.
– Influencing or driving
policy change.
• Numerous rare disease patientorganisations are active in Australia, andmost are small, volunteer-based groups.
The vast majority are involved in someform of research activity, including
contribution to registry data. Resources,
lack of policy support and difficultyin engaging the scientific or medical
community are cited challenges forthese groups’ work in Australia.7• Among our survey respondents, 56.3%
did not know if rare disease patientorganisations are active in Australia;
4.9% incorrectly reported thatthey are not.

6 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;11:30.
7 Pinto et al. Orphanet Journal of Rare Diseases (2016) 11:2 DOI 10.1186/s13023-016-0382-6
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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