November 2015 | Samhain 2015

Disparity in Clinical Genetics Services & Rare Disease Research Funding Across Europe

Tue, 10 November 15 18:49

Dr Sally Ann Lynch, UCD Senior Clinical Lecturer and Consultant Geneticist at Our Lady’s Children’s Hospital has co-authored a review of clinical genetics services and rare disease research funding which reveals wide disparity across Europe.  The report authored with Dr Isabella Borg (Department of Pathology at University of Malta and Medical Genetics Unit at Mater Dei Hospital Msida, Malta), published in the Journal of Community Genetics, highlights Republic of Ireland as being particularly poorly resourced in these two areas of clinical service and genetics research.

An EU directive [Article 12 DIRECTIVE 2011/24/EU ] on the application of patients’ rights in cross-border healthcare states that

“The European Commission shall support Member States in the development of European reference networks (ERNs) between healthcare providers and centres of expertise in the Member States, in particular, in the area of rare diseases”.

Healthcare providers must fulfil required conditions and criteria in order to join clinical ERNs. As 6% of the population suffer from a rare disease the EU commission is aiming to improve rare disease patient care across the EU.

A recent study analysed whether EU member states were ready, in terms of Clinical Genetic staffing, to meet the criteria to join ERNs as 80% of rare diseases are genetic in origin. This study, a collaboration between Dr Sally Ann Lynch ACoRD, UCD and Dr Isabella Borg, University of Malta, revealed that there is widespread inequity in terms of genetic service provision across Europe with the Republic of Ireland having particularly poor staffing levels.

In addition, the authors obtained data from the European Commission financial transparency system to identify which countries were successful in receiving EU grant funding (FP7) specifically in the field of rare diseases. Western European countries such as Denmark [1.53euro per capita] and the Netherlands [1.35 euro per capita] were the most successful.  Ireland secured 0.48 cents per capita [based on one Irish participant securing one grant]. Many EU countries receiving minimal (<0.0 cents per capita) EU rare disease grant funding included Bulgaria, Czech Republic, Estonia, Hungary, Lithuania, Poland, Romania.

The co-ordinators of 213 European clinical rare disease networks funded through the EU, come from 17 Countries. These 17 Countries (total population 410 million) participate in a further 1172 networks. In contrast, a further 16 European Countries who have no co-ordinators, (including the Republic of Ireland) participate in just 207 networks-one fifth that of the 17 Countries detailed above despite their populations comprising circa 120 million (one third that of the co-ordinator groups). 

The authors identified that the barriers to successful grant applications to the EU are mainly infrastructural ones and that the ancillary support one needs to help navigate through EU grant applications is not available in smaller/poorer EU countries.

The authors highlight concerns that inequity in service provision, which already exists, might widen with the establishment of ERNs. Whilst, there is no EU money earmarked for ERNs at present, established ERNs will be in a more competitive position for future funding. Countries that cannot join because of lack of provision at a local level, the Republic of Ireland a case in point, may lose out on EU funding in the long term.

Original Article 

Wide disparity of clinical genetics services and EU rare disease research funding across Europe

Sally Ann Lynch1 and Isabella Borg2,3

1 Academic Centre on Rare Diseases (ACoRD) UCD School of Medicine, University College Dublin Belfield Dublin 4 Ireland

2 Department of Pathology, University of Malta

3 Medical Genetics Unit, Mater Dei Hospital, Msida Malta