Use of Prenatal Exome Sequencing: Opinion Statement of the French Federation of Human Genetics Working Group.

Objective: Prenatal whole exome sequencing (pES) is increasingly prescribed for fetuses with ultrasound anomalies. Starting from the local French prenatal medicine practice, healthcare system and legal landscape, we aimed to address the broad medical and ethical issues raised by the use of pES for women and couples as well as for prenatal care providers.

Method: The French Federation of Human Genetics established a working group composed of clinicians and biologists from all over France to discuss pES challenges.

Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.

In paediatric oncology, genomics raises new ethical, legal and psychological issues, as somatic and constitutional situations intersect throughout the care pathway. The discovery of potential predisposition in this context is sometimes carried out outside the usual framework. This article focuses on the views of children, adolescents, and young adults (AYA) with cancer and their parents about their experience with genomic testing.

International scope of biomedical research ethics review.

Many countries consider long-term implications for society.

Chapitre 5. From individuals to social: The needs for a global ethics overview in pharmacogenomics.

As a part of personalized medicine, pharmacogenomics (PGx) allows practitioners to provide the right drug for a given patient, in accordance with the result of a genetic test. This practice raises many ethical issues that are discussed in the literature, sometimes within the larger context of personalized medicine. This article is based on a literature review that is original insofar as it is interdisciplinary and based on an approach that articulates individual and social rights.

Public Preferences for Digital Health Data Sharing: Discrete Choice Experiment Study in 12 European Countries.

Background: With new technologies, health data can be collected in a variety of different clinical, research, and public health contexts, and then can be used for a range of new purposes. Establishing the public's views about digital health data sharing is essential for policy makers to develop effective harmonization initiatives for digital health data governance at the European level.

Objective: This study investigated public preferences for digital health data sharing.

[Not Available].

Genetic research today is largely based on the reuse of data from care for the benefit of research. This evolution of practices, which involves an increasingly marked communication between care and research, questions the place given to the patient seen as a potential participant in research. In order to promote the circulation of genetic data generated and to allow their reuse for the benefit of different research, the French legislator reaffirmed the use of the opt-out mechanism (“non-opposition”) in the last bioethics law of the 2 August 2021.

Reconciling the biomedical data commons and the GDPR: three lessons from the EUCAN ELSI collaboratory.

The coming-into-force of the EU General Data Protection Regulation (GDPR) is a watershed moment in the legal recognition of enforceable rights to informational self-determination. The rapid evolution of legal requirements applicable to data use, however, has the potential to outstrip the capabilities of networks of biomedical data users to respond to the shifting norms. It can also delegitimate established institutional bodies that are responsible for assessing and authorising the downstream use of data, including research ethics committees and institutional data custodians.

Concordance of International Regulation of Pediatric Health Research.

Objective: To assess the comparability of international ethics principles and practices used in regulating pediatric research as a first step in determining whether reciprocal deference for international ethics review is feasible. Prior studies by the authors focused on other aspects of international health research, such as biobanks and direct-to-participant genomic research. The unique nature of pediatric research and its distinctive regulation by many countries warranted a separate study.

A 12-gene pharmacogenetic panel to prevent adverse drug reactions: an open-label, multicentre, controlled, cluster-randomised crossover implementation study.

Background: The benefit of pharmacogenetic testing before starting drug therapy has been well documented for several single gene-drug combinations. However, the clinical utility of a pre-emptive genotyping strategy using a pharmacogenetic panel has not been rigorously assessed.

Methods: We conducted an open-label, multicentre, controlled, cluster-randomised, crossover implementation study of a 12-gene pharmacogenetic panel in 18 hospitals, nine community health centres, and 28 community pharmacies in seven European countries (Austria, Greece, Italy, the Netherlands, Slovenia, Spain, and the UK).

Opportunistic genomic screening. Recommendations of the European Society of Human Genetics.

If genome sequencing is performed in health care, in theory the opportunity arises to take a further look at the data: opportunistic genomic screening (OGS). The European Society of Human Genetics (ESHG) in 2013 recommended that genome analysis should be restricted to the original health problem at least for the time being. Other organizations have argued that 'actionable' genetic variants should or could be reported (including American College of Medical Genetics and Genomics, French Society of Predictive and Personalized Medicine, Genomics England).

Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.

Objectives: Pharmacogenetic panel-based testing represents a new model for precision medicine. A sufficiently powered prospective study assessing the (cost-)effectiveness of a panel-based pharmacogenomics approach to guide pharmacotherapy is lacking. Therefore, the Ubiquitous Pharmacogenomics Consortium initiated the PREemptive Pharmacogenomic testing for prevention of Adverse drug Reactions (PREPARE) study.

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.

Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly.

[Chapter 6. Legal issues and for the health system of the development of a new class of innovative therapy in oncoimmunology: the “Car-T CellS”].

Car-T Cells are autologous or allogeneic lymphocytes cells, genetically engineered to express a transmembrane receptor called ?chimeric? because it consists of the assembly of different parts of molecules. These new techniques using biotechnologies (cellular engineering and genetic modifications) are developing in a complex legal context integrating the rules of the European Union (EU) and national rules, aiming to guarantee a high level of security for products and techniques but also for patients. This framework can be either considered as a guaranty for the use of new molecules in a highly secure environment or as an impediment, on the one hand regarding those who want to develop them because of a great complexity in identifying the adequate procedures and regarding the scientific prerequisites expected by the control agencies, and on the other hand by patients who have to wait many years for these innovations to be made available.

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.

Technological advances have increased the availability of genomic data in research and the clinic. If, over time, interpretation of the significance of the data changes, or new information becomes available, the question arises as to whether recontacting the patient and/or family is indicated. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with research groups from the UK and the Netherlands, developed recommendations on recontacting which, after public consultation, have been endorsed by ESHG Board.

[Not Available].

To encourage and maximise the use of human biological material in Europe, the European Commission instigated a main Directive in 2004 (Directive 2004/23/EC), four technical ones in 2006 (Commission Directives 2006/17/EC and 2006/86/EC) and in 2015 (Commission Directives (EU) 2015/565 and (EU) 2015/566). They encourage the donation of tissues and cells for transplant purposes in the safeguard of public health. Another major aim of Directive 2004/23/EC is to guarantee recipients' safety in transplantation.

[Chapter 4. Governing Big Data for Health, national and international issues].

The use of health data is increasingly seen as a central issue for research and also for care. The generation of these data is an added value for the conduct of large-scale studies, it is even considered as an (r) evolution in the methodology of research or even for personalized medicine. Several factors have influenced the acceleration in the use of health data (advances in genetics, technology and diversification of sources) leading to a re-questioning of the legal principles for the protection of health data in both French law and European law.

[Chapter 3. Governing the research on embryos].

The bioethics laws since their first adoption in 1994 until the latest proposals, have been widely commented and analyzed, regarding the provisions related to the legal qualification and the legal status of the embryo and of the embryonic stem cells. The legal issues raised by these hesitations imply instability for both researchers and health professionals about what they can and cannot do when it comes to the embryo and its cells. Thus, while the protection of the embryo was the subject of a consensus until the end of the 2000s, it now appears as the object of a political will, from researchers and state agencies, to support this research.

Including all voices in international data-sharing governance.

Background: Governments, funding bodies, institutions, and publishers have developed a number of strategies to encourage researchers to facilitate access to datasets. The rationale behind this approach is that this will bring a number of benefits and enable advances in healthcare and medicine by allowing the maximum returns from the investment in research, as well as reducing waste and promoting transparency. As this approach gains momentum, these data-sharing practices have implications for many kinds of research as they become standard practice across the world.

Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE.

Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations.

Human germline gene editing: Recommendations of ESHG and ESHRE.

Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if GLGE would become safe and effective.

Human germline gene editing. Recommendations of ESHG and ESHRE.

Technological developments in gene editing raise high expectations for clinical applications, first of all for somatic gene editing but in theory also for germline gene editing (GLGE). GLGE is currently not allowed in many countries. This makes clinical applications in these countries impossible now, even if GLGE would become safe and effective.

Responsible innovation in human germline gene editing. Background document to the recommendations of ESHG and ESHRE.

Technological developments in gene editing raise high expectations for clinical applications, including editing of the germline. The European Society of Human Reproduction and Embryology (ESHRE) and the European Society of Human Genetics (ESHG) together developed a Background document and Recommendations to inform and stimulate ongoing societal debates. This document provides the background to the Recommendations.