Fantini, Bernardino

Ferrelli, Rita Maria

Taruscio, Domenica

Annali dell'Istituto Superiore di Sanità

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HealtH systems sustainability  
for rare diseases
Edited by Rita Maria Ferrelli, Bernardino Fantini and Domenica Taruscio
Preface
Rita Maria Ferrelli1, Bernardino Fantini2 and Domenica Taruscio3
1Servizio Formazione, Istituto Superiore di Sanità, Rome, Italy 
2Faculté de Médecine, Université de Genève, Genéve, Switzerland  
3Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Rome, Italy
Ann Ist Super Sanità 2019 | Vol. 55, No. 3: 249-250
DOI: 10.4415/ANN_19_03_09
A disease or disorder is defined as rare in Europe 
when it affects less than 1 person in 2000. There are 
more than 6000 rare diseases. 80% of rare diseases are 
of genetic origin, whereas 20% are multifactorial and 
are often chronic and life-threatening. In spite of the 
limited number of people that can be affected by a 
single rare disease, the total number of patients living 
with a rare disease is high: on the whole, rare diseases 
may affect 30 million European Union citizens. This 
epidemiologic pattern deserves to be tackled at the 
European level. The European Commission has been 
financing several initiatives and Joint Actions with the 
purpose of providing a better support at European, na-
tional and local levels. Among them, the Joint Action 
RD-ACTION (www.rd-action.eu) aimed at ensuring 
an integrated European approach to the challenges 
faced by the Rare Disease (RD) community and at 
promoting, catalysing and triggering multi-stakeholder 
debates which are necessary both at European level, to 
build shared strategies, and at national level, to support 
the integration of EU policies on rare diseases across 
Member States.
RD-ACTION was co-funded by the EU Health 
Programme 2014-2020. It started in 2015 and ended 
in June 2018. RD-ACTION brought together 64 part-
ners – academia, Ministries of Health, health institutes, 
medical universities and patients’ organisations – from 
40 countries, including all 28 EU Member States. The 
strength of RD-ACTION lies in its multi-stakeholder 
integrated approach and its pan-European and well 
structured coverage that included, but that was not 
limited to the European patient organisation for rare 
diseases (EURORDIS – Rare Diseases Europe). 
Among the activities carried out by the Joint Action, 
the National Centre for Rare Diseases (Centro Nazi-
onale Malattie Rare, CNMR) at the Italian National 
Institute of Health (Istituto Superiore di Sanità, ISS) 
was entitled to develop a specific task to identify mech-
anisms influencing sustainability, equity and resilience 
of health systems for rare diseases. This monograph 
aims at collecting issues debated during the progress 
of CNMR task. All of them represent crucial factors 
raised by the study of rare diseases in the light of im-
proving the organization and sustainability of services 
for patients living with rare diseases. 
Fantini and Vaccaro review the literature available 
on value based health care and relate it to RD. Start-
ing from the critics of an purely economic definition of 
value and healthcare evaluation, efficacy and efficiency, 
they include the equity dimension in the definition of 
value-based healthcare and underline the need of radi-
cally re-examining how to organise the delivery of pre-
vention, and healthcare services, in the framework of a 
new culture of health and well-being, to empower and 
give voice to vulnerable groups.
Taruscio and coll. focus on primary prevention as an 
essential factor ensuring sustainability of health sys-
tems for rare diseases. They emphasize an integrated 
“One Health” approach, linking knowledge and action, 
as a requirement to get effective primary prevention. 
The role of surveillance of health events and potential 
health-damaging factors, science-based risk analysis, 
citizens’ empowerment and education of health profes-
sionals is crucial in primary prevention.
Severin and coll. stress the role of education in build-
ing sustainable health system and allowing better health 
and well-being for people with rare diseases. They sus-
tain that by giving knowledge, training competences 
and promoting active participation and responsibil-
ity through education, a new dialogue between policy-
makers, stakeholders, professionals and rare disease pa-
tients community will provide public health responses 
to special healthcare needs of people with rare diseases.
Iskrov and coll. face the financial sustainability issue, 
highlighting the role of health promotion, disease pre-
vention, primary and integrated care, patient-centred 
care for achieving effective, appropriate and sustainable 
healthcare. Moreover, they remember that a proactive 
health workforce planning and forecasting make health 
systems resilient to future shocks.
Castro and De Santis are concerned with the integra-
tion mechanisms that are an essential condition for 
ensuring continuity of care and sustainability. They re-
port on the system levers for the effective design and 
Address for correspondence: Rita Maria Ferrelli, Servizio Formazione, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy. 
E-mail: rita.ferrelli@iss.it.
Rita Maria Ferrelli, Bernardino Fantini and Domenica Taruscio
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implementation of integrated care frameworks, namely: 
political support and commitment, governance, stake-
holder engagement, organisational change, leadership, 
collaboration and trust, workforce education and train-
ing, patient empowerment, financing and incentives, 
ICT infrastructure and solutions, monitoring and evalu-
ation system.
According to De Santis and coll., patient empow-
erment is recognised as key enabler in creating sus-
tainability as addressing challenges faced by modern 
healthcare systems in terms of effectiveness, access and 
resilience. In the field of rare diseases, empowerment 
strategies have greater value due to low prevalence, lack 
of expertise, poor quality of life. The Authors report av-
enues to patient empowerment, namely: health literacy 
and capacity-building; shared decision-making; support 
to self-management.
Jessop considers the question of resilience and long-
term sustainability that has been raised by the devel-
opment of the European Reference Networks. The 
author refers to five “characteristics” for a resilience in-
dex adaptable to networks: awareness, diverseness, self 
regulation, integration, adaptation. Nevertheless, rare 
diseases networks should also examine their macrocul-
ture of artefacts, espoused values and unarticulated as-
sumptions through which network members coordinate 
network activities.
Montserrat and Taruscio review the main areas for pol-
icy actions: development and implementation of Euro-
pean Reference Networks, as a main strategy for shar-
ing of knowledge, clinical expertise and foster research; 
integration of high-quality patient registries, biobanks, 
and bioinformatics support, as key infrastructure tools 
addressing research and healthcare needs; the imple-
mentation of National Plans or National Strategies 
on RD in EU Member States by sharing experiences, 
capacity building and linking national efforts through 
a common strategy at a European level; actions driven 
by the recommendations for primary prevention of con-
genital anomalies (the main RD group with multifacto-
rial aetiology); policy provisions to foster research and 
development of orphan drugs.
In conclusion, all of the authors enriched the debate 
around the sustainability of health systems for rare dis-
eases and pinpoint the factors that are particularly rel-
evant to match equity and an appropriate and sustain-
able use of resources to respond to the healthcare needs 
of people living with rare diseases.


Health systems sustainability for rare diseases. Preface

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Health systems sustainability for rare diseases. Preface

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