Getting the genetic drift

29 March 2012

The Finnish National Institute for Health and Welfare's Helena Kääriäinen and Hannover Medical School's Jörg Schmidtke reveal issues and concerns for genetic service provision

Under the European Community Treaty, in particular Article 152, EU action aims at improving public health, preventing human illness and diseases, and identifying sources of danger to human health. As stated on the Public Health Portal of the EU, 'this has led to integrated health related work at EU level, aiming to bring health related policy areas together.

Through the health strategy, the EU plays its part in improving public health in Europe, and in so doing provides added value to member state actions while fully respecting the responsibilities of the member states for the organisation and delivery of health services and healthcare. The EU health strategy focuses mainly on strengthening cooperation and coordination, supporting the exchange of evidence-based information and knowledge, and assisting with national decision-making. To this end, the EU is developing a comprehensive health information system to provide EU-wide access to reliable and up-to-date information on key health related topics, and hence a basis for a common analysis of the factors affecting public health… Further aims are ensuring patient safety and the quality of healthcare to facilitate cross-border healthcare, as well as the mobility of health professionals and patients.'¹

One area of healthcare that particularly lends itself to EU action is human medical genetics. The reason for this is that a considerable part of medical genetics concerns rare diseases (those affecting fewer than one in 2,000) and, vice versa, the great majority of rare diseases are genetic. While individually rare, due to their large number, these conditions constitute a huge public health problem: it is estimated that some 5% of the EU population are directly affected by one of about 7,000 different rare genetic diseases. Moreover, the proportion of the population at increased risk for one of these conditions to manifest in later life or in the next generation is several-fold higher.

Organising healthcare for rare diseases is a huge challenge at both member state and European level. Knowledge on any one of these diseases may exist in only a few centres in the whole EU area. For patients and health professionals alike, it is a challenge to identify the centre that would optimally respond to a particular need. To overcome these problems, the Council of the European Union adopted 9.6.2009, a recommendation on action in the field of rare diseases.² Subsequent to this, a new EU Committee of Experts on Rare Diseases (EUCERD-Committee) was appointed. The committee consists of representatives of all member states, as well as a selection of experts representing science, patient organisations and industry. The committee aims at supporting the member states in fulfilling the recommendation.

In October 2011, the committee endorsed a set of recommendations on quality criteria for centres of expertise for rare diseases in member states. These recommendations are intended to help member states in their reflections or policy developments concerning national plans and strategies for rare diseases when addressing the issue of the organisation of healthcare pathways at national and European level.³ The next main task of EUCERD will be to draft and endorse recommendations for instituting European Reference Networks, where the expertise contained in the national centres of expertise can be intensified by collaboration.

In all European countries, genetic healthcare is provided by small numbers of experts comprising MD specialists in clinical genetics, laboratory geneticists, and genetic counsellors and/or nurses, who typically work in teams in specialised centres, often sub-specialised for subsets of the large number of different genetic conditions.

The rare disease platform 'Orphanet' – coordinated by Professor Ségolène Ayme, Paris, and supported by grants from the EU – helps these healthcare professionals to overcome the challenges of finding online or where to find, for instance, reliable quality-assured laboratories to perform genetic tests to confirm these rare diagnoses.⁴In the case of rare diseases, a lot of cross-border help is needed. This includes networking with colleagues who are knowledgeable in the disease concerned to get advice, sending samples for genetic tests for rarely occurring mutations, and in some cases, referring the patient for expert opinion or a specific treatment such as operations requiring specific skills.

There are a number of European organisations and groups dealing with genetic healthcare, such as EURORDIS, as well as research related to rare diseases, for example EPPOSI. In addition to this, there are numerous groups, networks and other projects, often funded by DG SANCO or DG Research, involved in developing standards, recommendations and guidelines related to rare diseases or doing basic or applied research in this field.

Among these, the European Society of Human Genetics (ESHG) has taken several initiatives to improve genetic healthcare. As an academic society, its role is to promote research in basic and applied human and medical genetics. However, according to its statutes, it also aims 'to ensure high standards in clinical practice and to facilitate contacts between all persons who share these aims, particularly those working in Europe'. ESHG's initiatives to this end include the areas of professionalisation, professional and public education, and quality assurance.

Many of these activities were and are being done together with Eurogentest, an EU-funded Network of Excellence (2005-2010), succeeded by Eurogentest2, a Coordinated Action 2011-2013. ESHG was the key driver for EU-wide recognition of clinical/medical genetics as a European medical specialty in March 2011, and is hoping to achieve European recognition for its two other constituents – the laboratory geneticists and the genetic counsellors/nurses – through internal certification and contributing to the current revision of EU law governing recognition of professional qualifications.

Professional and public education in human genetics is promoted by the ESHG education committee, and includes 'DNA Day', an activity addressing high school students and teachers across Europe. Both the ESHG Genetics Services Quality Committee and the Professional and Public Policy Committee are concerned with all aspects of laboratory and clinical quality assessment.

¹http://ec.europa.eu/health-eu/health_in_the_eu/policies/index_en.htm
²www.consilium.europa.eu/uedocs/cms_data/docs/pressdata/en/lsa/108383.pdf
³http://nestor.orpha.net/EUCERD/upload/file/EUCERDRecommendationCE.pdf
⁴www.orpha.net