The European Commission has launched a Public Consultation on a European Action in the Field of Rare Diseases with a view to publishing in November 2008 a Communication on a European Action in the Field of Rare Diseases. This follows the prioritization of High-quality diagnosis, treatment and information for people suffering from rare diseases by European Commission as established in the new Health Strategy adopted last 23 October 2007. There may be opportunities for EuroGentest and so we encourage members to familiarize themselves with the proposals here with a view to EuroGentest submitting comments and suggestions by 14th February 2008 to sanco-rarediseases-consultation@ec.europa.eu

This new topic in the highly popular series of workshops related to quality management will tackle the human side of change. To be held in Nice on February 8, the workshop will answer key questions such as: How do you motivate the laboratory to implement a new quality system? How do you manage the human side of this process of change? More.

Genetic tests that claim to predict the risk of developing life-threatening diseases are a waste of money and can frighten healthy people, experts including EuroGentest member Alastair Kent warned in a recent UK media briefing in the UK. This followed a sensationalist TV programme in which celebrities underwent genetic testing to discover their risk of potentially fatal diseases. The company Genetic Health claimed to have a test calculating the risk of contracting diseases including Alzheimer's, cancer and diabetes. However, the briefing pointed out the wrong genes are often tested in the £500, which makes the results almost meaningless. Read more.

Over the last three years, EuroGentest has carried out pioneering research into the status of genetic counselling across Europe. This research has thrown up widespread variation in practice. When this is matched with growing public expectations, the need for guidelines has become more and more apparent. In addition to guidelines, there is a clear need for other ways to improve and harmonize the quality of genetic counselling. At the recent AGM, EuroGentest decided to take the lead in this matter and is now drawing up plans for developing a self-assessment tool for genetic counselling centres and even evaluating the possibility to develop a European-wide EQA scheme for this field where the quality is exceptionally difficult to measure.

Traffic both directly and via Orphanet to the new database showing the quality policies and status of genetic testing laboratories across Europe has grown steadily since its launch in the autumn. In November for example there were 150 unique visitors. Now containing details of some 240 laboratories, you can access the database

Following their work on surveying patient rights in genetic testing across the EU, Herman Nys and his team have been asked by the Council of Europe to report on the factual situation of medical liability in Strasbourg in January. The issue of liability is becoming increasingly important as the level and scope of genetic testing increases and EuroGentest are also involved in the move to include a provision in the Biomedicine Convention on genetic testing.

An increasing number of leading companies are enquiring about the EuroGentest technology evaluation service. Already Roche, Chemgen, Idaho Technologies have commissioned projects as they realize the value of the unique resource provided by the project’s network. A fresh round involving automated DNA extraction systems is about to begin in the new year.

From Bulgaria to Lithuania, the patient leaflet series has been a major success and is now being translated into some 13 languages by the end of this year, with a further 10 already scheduled for 2008. Furthermore, following feedback, a new set with a special focus on psychosocial issues is also due next year including :

• What does it mean to be a carrier?
• My child has a genetic condition: implications for parents, siblings and grandparents.
• Information for families when no diagnosis can be found, or results are inconclusive.

Translated versions along with the original English set can be downloaded here.

Two dates to put in you diaries: February 29, 2008 Rare disease day;
April 25 DNA day – more information to come.