Ethical considerations in prenatal genomic testing.

This paper discusses ethical issues arising in the context of prenatal genomic testing. While genomic information in the prenatal context might increase reproductive choice, e.g.

Negotiating severity behind the scenes: prenatal testing in Germany.

Foetal-related severity is a key concept in policy and legislation relating to access to both reproductive technologies and selective abortions in many countries around the world, but not in Germany. This study sheds light on how 'severity' in the context of prenatal testing is understood and negotiated within the particular socio-cultural and legal context of Germany, where 'severity' relating to foetal clinical findings neither counts as a justification to implement population prenatal screening programs, nor as a legal ground to terminate pregnancy. This study explores the views of women who undergo prenatal testing, as well as of professionals who encounter them, through semi-structured interviews.

Ethical and social implications of public-private partnerships in the context of genomic/big health data collection.

This paper reports on the findings of an international workshop organised by the UK-France+ Genomics and Ethics Network (UK-FR + GENE) in 2022. The focus of the workshop were the ethical and social issues raised by public-private partnerships in the context of large-scale genomics initiatives in France, Germany, the United Kingdom and Israel, i.e.

Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France.

Background: Non-invasive prenatal testing (NIPT), which can screen for aneuploidies such as trisomy 21, is being implemented in several public healthcare systems across Europe. Comprehensive communication and information have been highlighted in the literature as important elements in supporting women's reproductive decision-making and addressing relevant ethical concerns such as routinisation. Countries such as England and France are adopting broadly similar implementation models, offering NIPT for pregnancies with high aneuploidy probability.

"Uninformed consent" in clinical trials with cancer patients: A qualitative analysis of patients' and support persons' communication experiences and needs.

Objective: Cancer patients are often overwhelmed when being informed about clinical trials. However, there is a lack of evidence-based strategies to improve physician-patient communication in this area. This study assessed the experiences and needs of cancer patients and their support persons (SPs) during the informed consent (IC) process prior to participation in clinical trials.

Women's preferences for NIPT as a first-line test in England and France: Challenges for genetic counseling practices.

Non-invasive prenatal testing (NIPT) is provided in the private and public sectors worldwide as a first- or second-tier test. In England and France, NIPT is fully funded and offered as a contingent strategy with different probability cut-offs (1:150 and 1:1000). These different approaches to define the target population for NIPT have implications for how women experience their antenatal care.

Solidarity during the COVID-19 pandemic: evidence from a nine-country interview study in Europe.

Calls for solidarity have been an ubiquitous feature in the response to the COVID-19 pandemic. However, we know little about how people have thought of and practised solidarity in their everyday lives since the beginning of the pandemic. What role does solidarity play in people's lives, how does it relate to COVID-19 public health measures and how has it changed in different phases of the pandemic? Situated within the medical humanities at the intersection of philosophy, bioethics, social sciences and policy studies, this article explores how the practice-based understanding of solidarity formulated by Prainsack and Buyx helps shed light on these questions.

Non-invasive prenatal testing in Germany: a unique ethical and policy landscape.

Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosomal aneuploidies such as trisomy 21 (Down syndrome), with a variety of implementation models. In 2019, the German Federal Joint Committee (G-BA), which plays a significant role in overseeing healthcare decisions in Germany, recommended that NIPT be reimbursed through public insurance.

Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison.

This article reports on the findings of an international workshop organised by the UK-France Genomics and Ethics Network (UK-FR GENE) in 2021. They focus specifically on how collection, storage and sharing of genomic data may pose challenges to established principles and values such as trust, confidentiality, and privacy in countries that have implemented, or are about to implement, large-scale national genomic initiatives. These challenges impact the relationships between patients/citizens and medicine/science, and on each party’s rights and duties towards each other.

Health professionals and scientists' views on genome-wide NIPT in the French public health system: Critical analysis of the ethical issues raised by prenatal genomics.

In France, since January 2020, laboratories have started to make available genome-wide Non-Invasive Prenatal Testing (GW-NIPT) beyond the three common trisomies (T21, T13 and T18) at the same cost as standard NIPT. With the possible margins for interpretation of the legal framework and in the absence of clear and updated guidelines, health professionals are left with questions about which type of screening offer may be clinically responsible, morally appropriate, and, at the same time, respectful of women's values and ability to make autonomous choices. The aim of this study is to provide an analysis and understanding of the challenging dimensions of clinical practices in the context of evolving scientific knowledge and techniques in prenatal genomics.

Preserving women's reproductive autonomy while promoting the rights of people with disabilities?: the case of Heidi Crowter and Maire Lea-Wilson in the light of NIPT debates in England, France and Germany.

On July 2021, the UK High Court of Justice heard the Case CO/2066/2020 on the application of Heidi Crowter who lives with Down's syndrome, and Máire Lea-Wilson whose son Aidan has Down's syndrome. Crowter and Lea-Wilson, with the support of the disability rights campaign, 'Don't Screen Us Out', have been taking legal action against the Secretary of State for Health and Social Care (the UK Government) for a review of the 1967 Abortion Act: the removal of section 1(1)(d) making termination of pregnancy lawful for 'severe' fetal indications detected after 24 weeks' gestation. On 23 September 2021, the High Court dismissed the claim.

Mixed-methods evaluation of the NHS Genomic Medicine Service for paediatric rare diseases: study protocol.

Background: A new nationally commissioned NHS England Genomic Medicine Service (GMS) was recently established to deliver genomic testing with equity of access for patients affected by rare diseases and cancer. The overarching aim of this research is to evaluate the implementation of the GMS during its early years, identify barriers and enablers to successful implementation, and provide recommendations for practice. The focus will be on the use of genomic testing for paediatric rare diseases.

The ethical landscape(s) of non-invasive prenatal testing in England, France and Germany: findings from a comparative literature review.

Since 2019, England, France and Germany have started offering NIPT as a publicly funded second-tier test for common chromosomal aneuploidies (trisomy 21, 18 and/or 13). Despite these benefits, the introduction of NIPT into routine prenatal care also raises a number of ethical concerns. In this paper, we analyse how these issues are discussed differently across countries, echoing the different socio-political particularities and value-systems that shape the use and regulation of NIPT in a specific country.

Normative positions towards COVID-19 contact-tracing apps: findings from a large-scale qualitative study in nine European countries.

Mobile applications for digital contact tracing have been developed and introduced around the world in response to the COVID-19 pandemic. Proposed as a tool to support 'traditional' forms of contact-tracing carried out to monitor contagion, these apps have triggered an intense debate with respect to their legal and ethical permissibility, social desirability and general feasibility. Based on a large-scale study including qualitative data from 349 interviews conducted in nine European countries (Austria, Belgium, France, Germany, Ireland, Italy, the Netherlands, German-speaking Switzerland, the United Kingdom), this paper shows that the binary framing often found in surveys and polls, which contrasts privacy concerns with the usefulness of these interventions for public health, does not capture the depth, breadth, and nuances of people's positions towards COVID-19 contact-tracing apps.

The ethics of genomic medicine: redefining values and norms in the UK and France.

This paper presents a joint position of the UK-France Genomics and Ethics Network (UK-FR GENE), which has been set up to reflect on the ethical and social issues arising from the integration of genomics into routine clinical care in the UK and France. In 2018, the two countries announced enhanced cooperation between their national strategies, Genomics England and Plan France Médecine Génomique 2025, which offers a unique opportunity to study the impact of genomic medicine and relevant policies in different national contexts. The paper provides first insights into the two national strategies and the norms, values and principles at stake in each country.

Sharing whilst caring: solidarity and public trust in a data-driven healthcare system.

Background: In the UK, the solidaristic character of the NHS makes it one of the most trusted public institutions. In recent years, the introduction of data-driven technologies in healthcare has opened up the space for collaborations with private digital companies seeking access to patient data. However, these collaborations appear to challenge the public's trust in the.

Predictive Prenatal Diagnosis for Infantile-onset Inflammatory Bowel Disease Because of Interleukin-10 Signalling Defects.

Objectives: Advances in genetic technologies provide opportunities for patient care and ethical challenges. Clinical care of patients with rare Mendelian disorders is often at the forefront of those developments. Whereas in classical polygenic inflammatory bowel disease (IBD), the predictive value of genetic variants is very low, predictive prenatal genetic diagnosis can inform families at high risk of severe genetic disorders.

Can there be wrongful life at the end of life? German courts revisit an old problem in a new context.

This article discusses a recent ruling by the German Federal Court concerning medical professional liability due to potentially unlawful clinically assisted nutrition and hydration (CANH) at the end of life. This case raises important ethical and legal questions regarding a third person's right to judge the value of another person's life and the concept of 'wrongful life'. In our brief report, we discuss the concepts of the 'value of life' and wrongful life, which were evoked by the court, and how these concepts apply to the present case.

[France and Great-Britain at the age of genomic medicine: new ethical challenges in reproductive medicine].

L’annonce du plan « France Médecine Génomique 2015 » témoigne de la volonté des pouvoirs publics français de faire de la médecine génomique l’un des éléments phares de la santé publique et de la recherche scientifique nationales. C’est dans ce contexte que la France a annoncé sa coopération avec la Grande-Bretagne, l’un des plus grands leaders mondiaux de la médecine génomique. Une telle collaboration au niveau international impose une réflexion à un cadre normatif commun qui réponde aux nouveaux défis éthiques posés par la médecine génomique.

Health professionals' and researchers' perspectives on prenatal whole genome and exome sequencing: 'We can't shut the door now, the genie's out, we need to refine it'.

The Prenatal Assessment of Genome and Exomes (PAGE) project is a UK-wide study aiming to gain a better understanding of genetic variants causing developmental problems during pregnancy. A further aim of the study is to provide an evidence-base for the introduction of prenatal whole genome and exome sequencing (PWGES) into prenatal diagnostics provided by the NHS, which is expected in 2018. This paper presents the findings of a qualitative interview study undertaken with 20 health professionals and researchers involved in the PAGE project, and explores their implications for understandings of 'good practice' in the uses of prenatal genomics clinically.