Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.: Survey assessing data sharing in leukodystrophies

International audienceThe purpose of this study was to explore patient and family views on the sharing of their medical data in the context of compiling a European leukodystrophies database. A survey questionnaire was delivered with help from referral centers and the European Leukodystrophies Association, and the questionnaires returned were both quantitatively and qualitatively analyzed. This study found that patients/families were strongly in favor of participating. Patients/families hold great hope and trust in the development of this type of research. They have a strong need for information and transparency on database governance, the conditions framing access to data, all research conducted, partnerships with the pharmaceutical industry, and they also need access to results. Our findings bring ethics-driven arguments for a process combining initial broad consent with ongoing information. On both, we propose key item-deliverables to database participants

BMC Womens Health

BACKGROUND: The French national cancer institute (INCa) conducted a series of studies to assist decision-making in view of the implementation of organised cervical cancer screening that will be launched in 2018. The programme will concern all women aged 25-65 and targeted interventions will be developed for underscreened populations. This is an evolution from an equality-based approach to a step-by-step strategy of equity aiming to tackle health cancer inequalities that are avoidable and represents unfair differences. Here we present the work of the expert-group in ethics drafted by INCa to review the ethical issues prior to the programme implementation. DISCUSSION: We discuss the value of such a strategy and presents reflections with regard to issues of stigmatization, respect for individual freedom and autonomy. Indeed, the balance has to be found between the search for beneficence and the potential occurrence of perverse effects, which should be considered with particular attention. CONCLUSION: Moving toward an equity-oriented policy under a strategy of proportionate universalism faces a number of challenges, thus an overview of ethics and social sciences must be an integral part of the process

Personalized early detection and prevention of breast cancer: ENVISION consensus statement

Abstract: The European Collaborative on Personalized Early Detection and Prevention of Breast Cancer (ENVISION) brings together several international research consortia working on different aspects of the personalized early detection and prevention of breast cancer. In a consensus conference held in 2019, the members of this network identified research areas requiring development to enable evidence-based personalized interventions that might improve the benefits and reduce the harms of existing breast cancer screening and prevention programmes. The priority areas identified were: 1) breast cancer subtype-specific risk assessment tools applicable to women of all ancestries; 2) intermediate surrogate markers of response to preventive measures; 3) novel non-surgical preventive measures to reduce the incidence of breast cancer of poor prognosis; and 4) hybrid effectiveness–implementation research combined with modelling studies to evaluate the long-term population outcomes of risk-based early detection strategies. The implementation of such programmes would require health-care systems to be open to learning and adapting, the engagement of a diverse range of stakeholders and tailoring to societal norms and values, while also addressing the ethical and legal issues. In this Consensus Statement, we discuss the current state of breast cancer risk prediction, risk-stratified prevention and early detection strategies, and their implementation. Throughout, we highlight priorities for advancing each of these areas

: J Gynecol Obstet Hum Reprod

International audienceOBJECTIVE: In France, termination of pregnancy (TOP) for medical reasons is legal, regardless of the term, after authorisation by a Multidisciplinary Centre for Prenatal Diagnosis (MCPD). This study analyses the elements supporting the TOP decision-making process faced with a foetal pathology. STUDY DESIGN: Medical records of one MCPD were analysed for the period 2013 and 2014 and semi-structured interviews with MCPD members were conducted. RESULTS: Out of 265 files concerning foetal indications, all but one resulted in a decision for TOP. The main indications in number for TOP were malformations and chromosomal abnormalities. For indications such as trisomy 21, authorisations are generally given without discussion. Our results underline the importance that professionals attach to the collegiality of decisions, particularly in situations of uncertainty. CONCLUSION: This study provides information about the activity of MCPDs within the field of prenatal diagnosis and shows the importance of these structures in supporting women and couples whilst respecting their autonomy. At present, the role of the MCPD is in the process of evolving and could become an information and advisory board for women, based on collegial expertise to guide their decision-making

J Gynecol Obstet Hum Reprod

OBJECTIVE: In France, termination of pregnancy (TOP) for medical reasons is legal, regardless of the term, after authorisation by a Multidisciplinary Centre for Prenatal Diagnosis (MCPD). This study analyses the elements supporting the TOP decision-making process faced with a foetal pathology. STUDY DESIGN: Medical records of one MCPD were analysed for the period 2013 and 2014 and semi-structured interviews with MCPD members were conducted. RESULTS: Out of 265 files concerning foetal indications, all but one resulted in a decision for TOP. The main indications in number for TOP were malformations and chromosomal abnormalities. For indications such as trisomy 21, authorisations are generally given without discussion. Our results underline the importance that professionals attach to the collegiality of decisions, particularly in situations of uncertainty. CONCLUSION: This study provides information about the activity of MCPDs within the field of prenatal diagnosis and shows the importance of these structures in supporting women and couples whilst respecting their autonomy. At present, the role of the MCPD is in the process of evolving and could become an information and advisory board for women, based on collegial expertise to guide their decision-making