Proposal objectives

EuroGentest2 is a European coordinated action for the harmonization and further improvement of genetic services, especially genetic testing across Europe.
Genetic conditions may arise from multiple genetic abnormalities resulting in different clinical presentations. The current technological innovations in human genetics, e.g. the extremely rapid development of massively parallel sequencing technologies, pave the way for entirely novel strategies in clinical genetics and laboratory diagnostics. In addition, EuroGentest2 is a European coordinated action for the harmonization and further improvement of genetic services, especially genetic testing across Europe.

Genetic conditions may arise from multiple genetic abnormalities resulting in different clinical presentations. The current technological innovations in human geneticsthe knowledge of the human genome is also steeply increasing. The elucidation of the complete human genetic sequence in the context of The Human Genome Project has been instrumental in this.

Due to these factors, the demand for genetic analysis in the human health care system is drastically increasing. Analysis of the genome currently incorporates three different laboratory disciplines: cytogenetics, molecular genetics and biochemical genetics, so depending on the clinical question, genetic results may be given for a specific gene or at a whole genome level.

Genetic testing, which includes genetic counselling, is an interactive process involving the patient and his/her family, the genetic laboratory and the referring clinician or clinical geneticist. For all genetic tests, accurate results and interpretation are essential as there may only be a single opportunity for testing – for instance in the prenatal setting, where it is obligatory to minimize repeat sampling in order to avoid the hazards and stress of unnecessary invasive procedures. Or, some patients request presymptomatic testing for a severe familial disease, and have no clinical phenotype or symptoms at the time of testing; however, the result has huge consequences for their future. Likewise in newborn screening, in non-invasive prenatal diagnosis (NIPD), prenatal diagnosis (PND) and pre-implantation genetic diagnosis (PGD), a test is undertaken before any clinical phenotype is evident. For prenatal testing, the parents may be presented with very difficult decisions, with profound, lifelong implications.

Consequently, it is essential that a genetic laboratory has in place reliable procedures underpinned by a robust quality management system, to minimize errors and failures and to reassure the patient and the referring clinician that international standards are being met.

Laboratory Quality Management (QM) is a concept that covers diverse aspects of a diagnostic genetic service including such parameters as laboratory accreditation, external quality assessment (EQA), control materials, training, document control, maintenance of equipment, internal audits, transborder specimens, etc. The main objective of EuroGentest2 is to see genetic testing services in Europe providing accurate and reliable results for the benefit of the patients.

Genetics and genomics are constantly progressing and new technologies are introduced at a rapid pace. Hence, individual laboratories cannot easily cope with the cost of development and the requirement of validation. EuroGentest2 wants to reach out to other EU projects that are focussing on scientific and technological progress, and coordinate the analytical validation of the newest technological platforms prior to their introduction. The latter activity also involves the provision of information and training to the users.

‘High quality testing’ is not confined to high quality of the laboratory activities only. Instead, high quality genetic testing is a process starting from the correct indication for the test, a fair way to fund testing and the prioritization needed for that, pre-test counselling and consenting to the test, taking and sending the sample with adequate clinical information, a correctly performed test with an adequate interpreting of the result to the referring clinicians, post-test counselling and the other post test actions like informing relatives and organizing possible follow up. Thus, EuroGentest2 strongly aims at improving the quality of all genetic services associated with genetic testing, across Europe, and at all the stages in this process.

However, it is generally felt that clinical services are less amenable to quality management. This is not true, and efforts have been made to define the parameters and adapt them to the clinic (e.g. inclusion in the genetic report of all the relevant information and a proper advice for counselling is already being assessed by some EQA schemes). A clinical genetic service can also be evaluated through quality criteria like uniformity of practice, traceability, turn-around-times, patient satisfaction, etc. The second objective of the project is to assist and improve quality management of the clinical genetic services.

As resources for healthcare provision are limited, it is essential that new and existing healthcare practices are scrutinised to ensure that they bring benefit to patients. This is particularly true where leading-edge technologies are employed and highly-publicised research results create expectations among patient groups and result in a demand for the newest interventions. Here, at the interface between laboratory and clinical service, is the study of the clinical utility of laboratory tests. The project wants to contribute significantly to the development and distribution of ‘clinical utility gene cards’ (see below) or ‘gene dossiers’. They are essential for good practice, but they will also allow policy makers and governments to decide about the reimbursement of genetic tests. To cope with circum-stances where public resources are not sufficient to provide funding for all beneficial genetics tests, the project additionally addresses the issue of prioritization.

Even if quality, clinical utility and technology are at the heart of this project, the network and participants want to also commit to the other difficult and upcoming issues in community genetics. With the advent of the whole genome technologies, unsought results will be generated. It is important and urgent to develop protocols on how to handle such unintended findings in clinical practice. Similarly, (neonatal) screening can confront parents, individuals and physicians, with unexpected information.

The globalisation of genetic testing raises serious and significant governance challenges. Genetic testing services are provided under widely varying conditions, diverse and heterogeneous quality schemes, differing national regulations and often in the absence of reference measurement systems and accreditation. In a global market the quality of testing and the safety of patients can only be assured if there is some measure of transborder coordination and a minimum quality standard.

In addition, Direct To Consumer (DTC) testing in genetics is increasingly being offered in a most liberal and practically unregulated way. Private genetics companies are creating an international market for susceptibility tests by selling direct to the public over the internet. The providers seem to neglect the impact (or the lack of it) that it may have on the individual, and on health care provision as a whole. Possible future DTC offers of whole genome sequencing will change the view from the rather meaningless risk profiling of today, to finding gene mutations with fundamental impact on individuals and families.

The general public needs to be informed with regard to the possibilities of genetic diagnostics. Ethical issues need to be addressed with care and professional expertise. The EuroGentest2 consortium putting forward this proposal consists of leading scientists and practitioners, providing cutting edge knowledge with respect to these quality management aspects, ethical and societal issues. This is the only approach that will warrant the development of diagnostic tools designed to restrict genetic testing to relevant medical factors, and that will warrant that medical genetic testing will be carefully embedded in clinical genetic counselling.

The very rapid changes in human genetics highlight the current momentum to implement novel diagnostic tools. The participants in EuroGentest2 want to further contribute to guidelines and recommendations, in a concordant way and in collaboration with the professional organisations. The 2 projects preceding this proposal, i.e. Eurogentest NoE and SAFE NoE, two Networks of Excellence supported by the 6th Framework programme, have proven their commitment.

In conclusion, this project thus aims to coordinate, at a European level, a number of important aspects of genetic testing which are directly or indirectly relevant to the patient and the public. Eurogentest2 builds on the expertise of EuroGentest NoE and SAFE NoE, Further-more, EuroGentest2 has close links with the professional organisations in genetics, prenatal diagnosis and reproductive medicine. EuroGentest2 differs from EuroGentest NoE and SAFE NoE in the fact that it will be a Coordination Action. A number of topics that were included in the former NoEs have been finalized, transferred to the professional organisations, or omitted from this project as they are not directly relevant.

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Copyright EuroGentest2 Coordination Action 2011 - EU Contract no.: FP7 - HEALTH-F4-2010-261469