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Background Until very recently, preconception genetic testing was only conducted in particular communities, ethnic groups or families for which an increased risk of genetic disease was identified. To detect in general population a risk for a couple to have a child affected by a rare, recessive or X-linked, genetic disease, carrier screening is proposed in several countries. We aimed to determine the current public opinion relative to this approach in France, using either a printed or web-based questionnaire. Results Among the 1568 participants, 91% are favorable to preconception genetic tests and 57% declare to be willing to have the screening if the latter is available. A medical prescription by a family doctor or a gynecologist would be the best way to propose the test for 73%, with a reimbursement from the social security insurance. However, 19% declare not to be willing to use the test because of their ethic or moral convictions, and the fear that the outcome would question the pregnancy. Otherwise, most participants consider that the test is a medical progress despite the risk of an increased medicalization of the pregnancy. Conclusion This first study in France highlights a global favorable opinion for the preconception genetic carrier testing under a medical prescription and a reimbursement by social security insurance. Our results emphasize as well the complex concerns underpinned by the use of this screening strategy. Therefore, the ethical issues related to these tests include the risk of eugenic drift mentioned by more than half of the participants.

Background An agreement, signed in 2007 by the 49 French Cystic Fibrosis Centers, included a commitment to participate, within the next 5 years, in a care quality assessment and improvement program (QIP). The objective was to roll out in the French Cystic Fibrosis (CF) care network a QIP adapted from the US program for Accelerating Improvement in Cystic Fibrosis Care developed by The Dartmouth Institute Microsystem Academy (TDIMA) and customized by the US CF Foundation between 2002 and 2013. Methods The French national team at the Nantes-Roscoff CF Center of Expertise was trained at TDIMA and visited US CF centers involved in US Learning and Leadership Collaboratives (LLCs). It introduced the PHARE-M QIP in France by transposing the Action Guide and material. A PHARE-M LLC1 including seven centers, underwent two external assessments. Adjustments were made, then a PHARE-M LLC2 was rolled out at seven more centers in two regions. On-site coaching was strengthened. The teams’ satisfaction was assessed and further adjustments were made. In 2014, the program sought recognition as a continuing education program for healthcare professionals. Results Ninety-six trainees including 14 patients/parents from the 14 CFCs volunteered to participate, test and adapt the program during LLC1 and LLC2 sessions. Comparison of patient outcomes collected in the Registry report by CF center, reflection on potential best practices, selection by each team of an improvement theme, implementation of improvement actions, and exchanges between teams fostered the adhesion of the teams. The program strengthened quality of care, interdisciplinary functioning and collaboration with patients/parents at the centers. The satisfaction expressed by the teams increased over time. A post-PHARE-M cycle maintains the focus on continuous quality improvement (CQI). In 2015, PHARE-M was recognized as a continuing professional development program in healthcare. Conclusions The PHARE-M is a complex intervention in multidisciplinary teams working in a variety of hospital settings. A confluence of factors motivated teams to engage in the program. Involving Patient/Parent in quality improvement (QI) work and developing patient therapeutic education for self-management appeared to be complementary approaches to improve care. Incorporating the program into hospital continuing education insures its sustainability. Transparency of Patient Registry indicators per center published in a brief lapse of time is required to effectively support CQI. The impact of the PHARE-M on patient outcomes after 3 years is the subject of a research program funded by the French Ministry of Health whose results will be available in 2017.

Background Quality Improvement Programs (QIP) in cystic fibrosis (CF) care have emerged as strategies to reduce variability of care and of patient outcomes among centres facilitating the implementation of Best Practices in all centres. The US CF Foundation developed a Learning and Leadership Collaborative program which was transposed in France in 2011. Patient and parent involvement (P&PI) on the local quality teams (QTs) is one dimension of this complex intervention. The conditions and effects of this involvement needed to be evaluated. Methods In all settings, patients and parents were recruited by their centre care team. They were trained to QI method and tools and contributed their own expertise to improve the process of care. This involvement has been analyzed in the frame of the whole process evaluation. Observations and interviews conducted during the course of the first training year explored the motivations of the patients and parents to participate and the vision of the health care teams. A research study was carried out after three years with the patients/parents and the professionals to assess the French QIP’s effectiveness using a questionnaire to report their opinions on various components of the program, including their experience of P&PI. Responses were analyzed in view of identifying consensus and dissensus between the two groups. Results At the introduction of the program, P&PI was an opportunity for healthcare providers to reflect on their conceptions of these individuals both as patients and as healthcare system users. Curiosity about the teams’ functioning, the various center organizations and outcomes led patients to overcome their initial barriers to participation. Seventy-six people including 12 patients/parents from the 14 pilot centres responded to the questionnaire after 3 years. Consensus between professionals and patients/parents was high on most items characterizing the performance of the QIP, QT effectiveness and QT functioning. Patients, parents and professionals agreed on the main characteristics of care such as an optimized organization, multidisciplinary care and patient-centredness. Regarding the use of patient electronic records, the use of care guidelines or the organization of support in the patient community, responses were not consensual amongst patients/parents and a source of dissensus between the two groups. All agreed that the French QIP created good conditions for their involvement. In the end, both groups agreed that it was difficult to attribute the paternity of some changes specifically to any member in the team. Discussion Perspectives such as an educational framework to develop the skills and behaviors of professionals engaged in collaborative practice with patients and families and large patient experience surveys could be used to capture patients’ experience of care in the improvement work. Conclusion Success factors for patient/parent long-term involvement in QIPs have been identified. Answers to questions raised by the stakeholders about the feasibility, efficiency and usefulness of P&PI in this CF QIP could be given but new questions arose about the sustainability of continuous quality improvement over time.