Emmanuelle Rial-Sebbag

Legislation on direct-to-consumer genetic testing in seven European countries

An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.

The role of a bioresource research impact factor as an incentive to share human bioresources

The role of a bioresource research impact factor as an incentive to share human bioresources

Toward a common language for biobanking

To encourage the process of harmonization, the biobank community should support and use a common terminology. Relevant terms may be found in general thesauri for medicine, legal instruments or specific glossaries for biobanking. A comparison of the use of these sources has so far not been conducted and would be a useful instrument to further promote harmonization and data sharing. Thus, the purpose of the present study was to investigate the preference of definitions important for sharing biological samples and data. Definitions for 10 terms –[human] biobank, sample/specimen, sample collection, study, aliquot, coded, identifying information, anonymised, personal data and informed consent–were collected from several sources. A web-based questionnaire was sent to 560 European individuals working with biobanks asking to select their preferred definition for the terms. A total of 123 people participated in the survey, giving a response rate of 23%. The result was evaluated from four aspects: scope of definitions, potential regional differences, differences in semantics and definitions in the context of ontologies, guided by comments from responders. Indicative from the survey is the risk of focusing only on the research aspect of biobanking in definitions. Hence, it is recommended that important terms should be formulated in such a way that all areas of biobanking are covered to improve the bridges between research and clinical application. Since several of the terms investigated here within can also be found in a legal context, which may differ between countries, establishing what is a proper definition on how it adheres to law is also crucial.

Mechanisms of the Development of Allergy (MeDALL): Introducing novel concepts in allergy phenotypes

&NA; Asthma, rhinitis, and eczema are complex diseases with multiple genetic and environmental factors interlinked through IgE‐associated and non–IgE‐associated mechanisms. Mechanisms of the Development of ALLergy (MeDALL; EU FP7‐CP‐IP; project no: 261357; 2010‐2015) studied the complex links of allergic diseases at the clinical and mechanistic levels by linking epidemiologic, clinical, and mechanistic research, including in vivo and in vitro models. MeDALL integrated 14 European birth cohorts, including 44,010 participants and 160 cohort follow‐ups between pregnancy and age 20 years. Thirteen thousand children were prospectively followed after puberty by using a newly standardized MeDALL Core Questionnaire. A microarray developed for allergen molecules with increased IgE sensitivity was obtained for 3,292 children. Estimates of air pollution exposure from previous studies were available for 10,000 children. Omics data included those from historical genome‐wide association studies (23,000 children) and DNA methylation (2,173), targeted multiplex biomarker (1,427), and transcriptomic (723) studies. Using classical epidemiology and machine‐learning methods in 16,147 children aged 4 years and 11,080 children aged 8 years, MeDALL showed the multimorbidity of eczema, rhinitis, and asthma and estimated that only 38% of multimorbidity was attributable to IgE sensitization. MeDALL has proposed a new vision of multimorbidity independent of IgE sensitization, and has shown that monosensitization and polysensitization represent 2 distinct phenotypes. The translational component of MeDALL is shown by the identification of a novel allergic phenotype characterized by polysensitization and multimorbidity, which is associated with the frequency, persistence, and severity of allergic symptoms. The results of MeDALL will help integrate personalized, predictive, preventative, and participatory approaches in allergic diseases.

Regulation of Cell-Based Therapies in Europe: Current Challenges and Emerging Issues

Europe is ready to deploy its immense capital of knowledge into the development of effective cell-based therapies and delve into the global race for translating stem cell science into regenerative medicine. But what are the challenges and the emerging issues that lay ahead the realization of Europes enormous potential in this field? Both researchers and industrial stakeholders tend to impute the slow pace of translation to specific suboptimal features of the regulatory environment in Europe. At the same time, a host of new issues are emerging as testified by a recent public controversy regarding the provision of unproven cell therapy in Italy. We will review this topic and suggest some solutions to foster the responsible development of innovative cell-based therapies in Europe.

Communication of results and disclosure of incidental findings in longitudinal paediatric research.

Communicating results to research participants is an issue frequently discussed in terms of ethics. It has specific features when involving large‐scale paediatric cohorts. High‐throughput biological explorations reveal also incidental findings of medical relevance. This work analyses existing frameworks for managing such issues and proposes a policy grounded in the experience acquired in the FP7 EU project MeDALL – Mechanisms of the Development of ALLergy.

One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans

Gene editing, which allows for specific location(s) in the genome to be targeted and altered by deleting, adding or substituting nucleotides, is currently the subject of important academic and policy discussions. With the advent of efficient tools, such as CRISPR-Cas9, the plausibility of using gene editing safely in humans for either somatic or germ line gene editing is being considered seriously. Beyond safety issues, somatic gene editing in humans does raise ethical, legal and social issues (ELSI), however, it is suggested to be less challenging to existing ethical and legal frameworks; indeed somatic gene editing is already applied in (pre-) clinical trials. In contrast, the notion of altering the germ line or embryo such that alterations could be heritable in humans raises a large number of ELSI; it is currently debated whether it should even be allowed in the context of basic research. Even greater ELSI debates address the potential use of germ line or embryo gene editing for clinical purposes, which, at the moment is not being conducted and is prohibited in several jurisdictions. In the context of these ongoing debates surrounding gene editing, we present herein guidance to further discussion and investigation by highlighting three crucial areas that merit the most attention, time and resources at this stage in the responsible development and use of gene editing technologies: (1) conducting careful scientific research and disseminating results to build a solid evidence base; (2) conducting ethical, legal and social issues research; and (3) conducting meaningful stakeholder engagement, education and dialogue.

The European Court of Human Rights’ Ruling on Unproven Stem Cell Therapies: A Missed Opportunity?

On May 6th 2014, the European Court of Human Rights added yet a new element to the judicial history of stem cells as it ruled in Durisotto v. Italy [appeal n. 62804/13]. The ruling rejected a patient claim to access an unproven cell therapy-an outcome that is certainly to be welcomed. However, this ruling is a missed occasion to clarify and reaffirm some important legal distinctions that could have greatly benefited the whole field of regenerative medicine. We claim that the ethical and political assumptions that sustain the regulation of expanded access programs to new therapies should be carefully scrutinized, with particular attention to the justifications for the risks connected to unconventional therapies. A clear legal definition of what counts as compassionate cure as distinct from unregulated and untested therapies cannot be provided unless those points are previously addressed.

Feedback of Individual Genetic Results to Research Participants: Is It Feasible in Europe?

Background: There is growing consensus that individual genetic research results that are scientifically robust, analytically valid, and clinically actionable should be offered to research participants. However, the general practice in European research projects is that results are usually not provided to research participants for many reasons. This article reports on the views of European experts and scholars who are members of the European COST Action CHIP ME IS1303 (Citizens Health through public-private Initiatives: Public health, Market and Ethical perspectives) regarding challenges to the feedback of individual genetic results to research participants in Europe and potential strategies to address these challenges. Materials and Methods: A consultation of the COST Action members was conducted through an email survey and a workshop. The results from the consultation were analyzed following a conventional content analysis approach. Results: Legal frameworks, professional guidelines, and financial, organizational, and human resources to support the feedback of results are largely missing in Europe. Necessary steps to facilitate the feedback process include clarifying legal requirements to the feedback of results, developing harmonized European best practices, promoting interdisciplinary and cross-institutional collaboration, designing educational programs and cost-efficient IT-based platforms, involving research ethics committees, and documenting the health benefits and risks of the feedback process. Conclusions: Coordinated efforts at pan-European level are needed to enable equitable, scientifically sound, and socially robust feedback of results to research participants.

Governing Biobanks Through a European Infrastructure

In the framework of the 2007 call to support the preparatory phase of the European biobank infrastructures, the European Commission funded a specific project aiming to prepare a pan-European Biobanking and Biomolecular Resources Research Infrastructure (BBMRI) for biomedical and biological research in Europe and worldwide (Yuille et al. in Brief Bioinform 9:14–24, 2008). This infrastructure, which was to be built on new and existing national networks, resources and technologies, would be specifically complemented by innovative components and would be properly embedded into European ethical, legal and societal frameworks.