Genetic Testing In Europe Research Articles

Developing a core set of indicators for quality assessment of cancer genetic services

Abstract Background One of the major challenges of personalized medicine is how to assess the quality of genetic services offered both in public and private sectors. Although the quality of genetic services can be assessed and compared with structure, process or outcome measures, a consensus on the appropriate quality assessment measures is lacking worldwide. The aim of the study is to develop a core set of indicators for the quality assessment of genetic services providing testing for breast and ovarian cancer (BRCA1/2 testing). Methods In the first phase, a literature review was performed to identify genetic services providing BRCA1/2 genetic testing in Europe. In the second phase, structural, process and outcome measures retrieved from the literature records will be rated, with a 5-point Likert grading scale, by members of multinational genetic associations in a three-round Delphi survey. The survey will also accommodate quality assessment measures proposed by the participants. In the last phase, the feasibility of using a core set of indicators will be assessed across European countries. Results The literature search yielded 92 relevant records published 2000-2019, in English or Italian. The records reported outcome measures (92/92) and, to a lesser extent, process (80/92) and structure measures (71/92). An ad hoc data extraction form has been developed and the evaluation of the literature records is ongoing. Highly rated measures obtained through consensus among genetics professionals will form the core set of indicators for quality assessment of genetic services providing BRCA1/2 genetic testing. Conclusions The development of a standardized set of indicators for the assessment of genetics services is an essential step forward in defining common quality standards of the services in Europe. It will also facilitate direct comparisons across countries, highlighting examples of good practices and points of improvement for currently implemented genetic services. Key messages A minimum set of indicators for the assessment of genetics services is required to guarantee quality standards of the services across European countries. A core set of indicators will facilitate direct comparisons across European countries, underlining good practices and points of improvement for currently implemented genetic services.

The appropriateness of genetic testing in Europe: a survey of national experts

The appropriateness of genetic testing in Europe: a survey of national experts

The appropriateness of genetic testing in Europe: a survey of national experts

The appropriateness of genetic testing in Europe: a survey of national experts

Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape

Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients’ rights.

Identification of Delivery Models for the Provision of Predictive Genetic Testing in Europe: Protocol for a Multicentre Qualitative Study and a Systematic Review of the Literature

The appropriate application of genomic technologies in healthcare is surrounded by many concerns. In particular, there is a lack of evidence on what constitutes an optimal genetic service delivery model, which depends on the type of genetic test and healthcare context considered. The present project aims to identify, classify, and evaluate delivery models for the provision of predictive genetic testing in Europe and in selected Anglophone extra-European countries (the USA, Canada, Australia, and New Zealand). It also sets out to survey the European public health community's readiness to incorporate public health genomics into their practice. The project consists of (i) a systematic review of published literature and selected country websites, (ii) structured interviews with health experts on the genetic service delivery models in their respective countries, and (iii) a survey of European Public Health Association (EUPHA) members' knowledge and attitudes toward genomics applications in clinical practice. The inclusion criteria for the systematic review are that articles be published in the period 2000-2015; be in English or Italian; and be from European countries or from Canada, the USA, Australia, or New Zealand. Additional policy documents will be retrieved from represented countries' government-affiliated websites. The results of the research will be disseminated through the EUPHA network, the Italian Network for Genomics in Public Health (GENISAP), and seminars and workshops. The transfer of genomic technologies from research to clinical application is influenced not only by several factors inherent to research goals and delivery of healthcare but also by external and commercial interests that may cause the premature introduction of genetic tests in the public and private sectors. Furthermore, current genetic services are delivered without a standardized set of process and outcome measures, which makes the evaluation of healthcare services difficult. The present study will identify and classify delivery models and, subsequently, establish which are appropriate for the provision of predictive genetic testing in Europe by comparing sets of process and outcome measures. In this way, the study will provide a basis for future recommendations to decision makers involved in the financing, delivery, and consumption of genetic services.

Current developments in the regulation of direct-to-consumer genetic testing in Europe

Over the past years, direct-to-consumer (DTC) genetic testing has provoked controversy regarding its still questionable risks and benefits. The safety and performance of such devices, when entering the European market, are currently regulated by the Directive 98/79 EC of the European Parliament and of the Council on in vitro diagnostic medical devices. In September 2012, a new Regulation was proposed to replace this Directive, and the legislative process is still ongoing. This article presents the main points of the European Commission’s proposal for the new Regulation and the subsequent amendments voted by the European Parliament, aiming to evaluate the potential contribution of the proposal for a more effective regulation of DTC genetic testing in Europe. In this regard, the proposal seems to enhance the current regulatory framework by further elucidating the scope of the Regulation and by establishing a risk-based classification system that guarantees increased pre-market scrutiny of the tests. Furthermore, the proposal attempts to establish higher safety and performance requirements and to enhance transparency. In addition, the European Parliament introduced amendments according to which appropriate genetic counselling is required in the context of genetic tests, and such tests are classified as prescription only, banning, at the same time, their DTC advertising. These developments have already provoked controversy among stakeholders and, if eventually adopted, they may lead to a radical change in the European DTC genetic testing landscape. In this light, the political decisions that will be taken imminently will be determinant.

Ethical Implications and Legislative Control of Direct-to-Consumer Genetic Testing in Europe

Since their first commercialization in 2007, the use of Direct To Consumer (DTC) genetic testing (GT) has rapidly increased. From the consumer viewpoint, the possibility to access genetic information without supervision of a medical doctor could allow for free choice and self-diagnosis (1), and in principle leads to an increased attention on...

Europe and direct-to-consumer genetic tests

1, a call for a more detailed investigation of direct-to-consumer (DTC) genetic testing in Europe was made in order to enable enforcement of a more targeted European regulation. In this contribution, we want to support this position and provide additional important details. Although DTC genetic-testing services are currently being offered in Europe through a limited number of companies only, this issue has been raised in debates at many levels. At the European level, the European Society of Human Genetics has addressed the topic several times 2–4 . A report was also prepared by the Science and Technology Options Assessment for the European Parliament 5 . Furthermore,

Applications of an adaptive knowledge platform in translational medicine for breast cancer

This paper discusses the application of an adaptive technology platform to evaluate clinical pathways, clinical strategies and their application to early genetic testing in Europe. It results from a collaboration between Professor Christine Huttin, who created a technology startup called endepusresearchinc (www.endepusresearchinc-com) in Cambridge U.S.A. and Dr. Michael Liebman, Managing Director of Strategic Medicine, Inc.(www.strategicmedicine.com) positioned in the translational medicine space with technologies to model disease processes and experience in early genetic testing for breast cancer. Diagnostics was identified as a potential area for application of economic and business models using ENDEPUSresearchinc statistical methods combining implicit and explicit financial information for prospective payment systems in various types of health care financing systems. The new economics resulting from such platforms challenges the constrained environment for public, private laboratories and partnerships, the restrictions imposed by governmental agencies, alliances between stakeholders such as the medical profession and laboratories: such early technologies are clearly identified as a key benefit to the system over time but a major challenge for short term returns.

Applications of an adaptive knowledge platform in translational medicine for breast cancer

This paper discusses the application of an adaptive technology platform to evaluate clinical pathways, clinical strategies and their application to early genetic testing in Europe. It results from ...

Genetic testing in Europe: transborder testing is a necessity

Genetic tests are now offered internationally, through both public and private sector genetic testing services. Physicians prescribing these tests and biologists receiving the samples need to know which tests are available, where they are performed and whether the identified laboratories meet quality standards. To fulfil this need, http://www.orpha.net was launched thirteen years ago to set up a database of clinical laboratories in the field of rare diseases. Data was collected in 1 country in 1997, 15 in 2003, 26 in 2006 and 38 in 2010. This major effort was made possible thanks to resources from the EC DG for Public Health. In collaboration with the EuroGentest Network of Excellence, information on quality management has been added to the Orphanet database over the past four years. To obtain information on genetic testing in Orphanet, it is possible to search by disease name or by gene (symbol or name in English) in addition to the traditional search by name of laboratory or professional. The information provided on laboratories includes data on quality management. Currently, 956 laboratories offering tests for 1,559 genes are registered in the Orphanet database. The test offer differs greatly from one large country to another: Germany (1,141 genes), France (874 genes), Italy (625 genes), Spain (582 genes), UK (414 genes). Medium and small-sized countries have a test offer ranging from 1 to 233 genes. This situation explains the large cross-border flow of specimens and underlines the need to provide access to services in other countries when necessary, especially for very rare diseases. Testing for Cystic fibrosis is the only service which is provided by every country. The distribution of this test offer will be presented.

External quality assessment for mutation detection in the BRCA1 and BRCA2 genes: EMQN's experience of 3 years

BackgroundThe European Molecular Genetics Quality Network (EMQN) was formed in order to improve external quality assessment for molecular genetic testing in Europe. From 1999 to 2002 it received funding from the European Union under the Standards, Measurement and Testing programme (contract no. SMT4-CT98-7515). Since then, its maintenance has been supported through subscription of the participants, and it has been coordinated by the National Genetic Reference Laboratory at Manchester, UK (Rob Elles and Simon Patton; www.emqn.org). Materials and methodsAmong other external quality assessment (EQA) schemes, EMQN has provided an EQA scheme for mutation detection in the breast cancer genes, BRCA1 and BRCA2, designed to cover the two important aspects of genetic testing: (i) genotyping and (ii) interpretation and reporting of results. The fourth full scheme was completed in 2003, with data evaluation pending for the 47 participants. ResultsAnalysis of genotyping data has pinpointed two main types of errors: (i) missing a mutation (in nine of the 17 false results a normal sequence was reported); and (ii) description of the observed sequence change by an incorrect nomenclature. Compared with the more technical process of genotyping, the writing of reports displayed a much wider variation between laboratories. ConclusionsFrom the reported data it is clear that external quality control should become an integral part of quality assessment in the laboratory, thus contributing to maintaining confidence in the reliability of genetic testing among patients and health professionals.

Genetic testing services in Europe: Quality assurance and policy issues

The popular press is painting a picture of a future in which everyone has a detailed DNA profile of themselves drawn up. Such a vision of the future, however, is more science fiction than science practice. Predictive tests for complex diseases and cancer, eg colon cancer and breast cancer, are increasingly being used, and the related, and important, genetic counselling may become complex and comprehensive. Quality assurance in genetic testing for both cytogenetics and molecular genetic testing in Europe is also described. The quality of genetic testing in Europe could be substantially improved, and before a genetic test is accepted as a routine diagnostic or prognostic procedure it should have proven clinical utility. Pharmacogenetic testing looks at the efficacy of medicines and their side effects on patients and patient groups, and is increasingly being used to develop better targeted medicines. Genetic testing services and genetic counselling are structured in different ways in Europe, and organisation and reimbursement differ among European countries. Quality and non-directive genetic counselling must be made an integral part of quality genetic testing services, and be sufficiently reimbursed. European networking and identification of reference centres for quality-based diagnostic testing of genetic diseases should be encouraged. Reimbursement within Europe for sample forwarding should be adapted to allow samples to be tested in countries other than the country of origin of the patient.