Human Genetic Testing: JRC reports on quality standards across Europe
The report identifies shortcomings and proposes measures to ensure the highest quality of such services including harmonised quality control, development of a common range of certified reference materials, better cross-border co-operation and the establishment of a European database of genetic testing centres. Genetic testing for medical purposes can help prevent diseases and improve the quality of life of patients and their families. New discoveries in this field are moving very fast from the lab to the clinic, yet many are now concerned about quality standards not receiving enough attention in this process. This can lead to diagnostic mistakes, different interpretations of test results and limited access to tests for rare genetic conditions. Why genetic testing? Genetic testing is used in medical practice amongst other applications to identify genome changes that might be linked to a disease or the risk of developing a disease. As a persons DNA is a given and will not change during his or her life, medical predictions based on genetic analyses look into long-term trends in health conditions. They can help foresee future reoccurrence and development of diseases, and can therefore help prevent and cure them. ,Genetic analyses can shift the focus of health care to disease prevention and fostering healthier lifestyles, reducing the costs of health services and improving the quality of life of European citizens in an ageing society. But they can also cast a shadow on a persons life, and affect his or her family and friends. They play a key role in making life-long decisions. They must therefore be as highly accurate as possible. Highest quality and reliability are of paramount importance.,Overall, the JRC study aims to provide support for a Europe-wide consistency in quality, safety and efficacy standards of genetic testing for common and rare diseases. More tests across Europe The use of genetic testing services has risen remarkably during the past few years (over 100% yearly increase in some EU Member States) and it is expected to continue. The number of tests performed annually in Europe is now over 700 000 (this figure refers to the overall number of tests carried out each year in the EU, and does not represent the number of different genetic tests), with an estimated economic value of 500 million per year.,However, studies have exposed a number of shortcomings in the existing systems for control and quality assurance in this vital area. For example, erroneous results occur in up to 2% of samples tested, although many centres are working well and, with the current knowledge available, ensure the best possible quality of genetic services Wanted: accurate, high quality testing and counselling There is an urgent need for EU-wide co-ordination of efforts to ensure that genetic tests and the counselling that accompanies them are accurate, and of the same high quality standards across the EU. For instance, the JRC survey indicates that laboratory participation in accredited external quality assessment (EQA) schemes is fragmented and incomplete. It recommends the creation of a harmonised EQA framework to propose common standards, while retaining the flexibility to allow for national regulatory and cultural differences. Development of a common range of reference materials/standards would underpin this effort, while also assisting EU Member States lacking the necessary resources to conform to any agreed standards.,Availability of appropriate counselling is seen as extremely important. This could be assured by requiring laboratories to accept samples supplied only by institutions that provide counselling or are linked to those that do. Encouraging information exchange No EU country is as yet self-sufficient in testing for rare diseases, so samples are often sent abroad for analysis. Despite this, cross-border co-operation remains suboptimal, highlighting the desirability of encouraging a broader exchange of information though trans-national networking. The JRC report itself proposes the establishment of a Europe-wide database of recognised centres and the tests they offer, and also the creation of an international advisory board to give advice on the validity and utility of tests before their commercialisation.,The JRC report Towards quality assurance and harmonisation of genetic testing services in the EU may be downloaded at: ,http://www.jrc.es ,
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