In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society of Predictive and Personalized Medicine (SFMPP) established a working group of 47 experts to elaborate guidelines for managing information given on the SFs for genes related to cancers. A subgroup of ethicists, lawyers, patients' representatives, and psychologists provided ethical reflection, information guidelines, and materials (written consent form and video). A subgroup with medical expertise, including oncologists and clinical and molecular geneticists, provided independent evaluation and classification of 60 genes. The main criteria were the "actionability" of the genes (available screening or prevention strategies), the risk evaluation (severity, penetrance, and age of disease onset), and the level of evidence from published data. Genes were divided into three classes: for class 1 genes (n = 36), delivering the information on SFs was recommended; for class 2 genes (n = 5), delivering the information remained questionable because of insufficient data from the literature and/or level of evidence; and for class 3 genes (n = 19), delivering the information on SFs was not recommended. These guidelines for managing SFs for cancer-predisposing genes provide new insights for clinicians and laboratories to standardize clinical practices.

BackgroundThe development of new therapeutics has led to progress in the early management of congenital diaphragmatic hernia (CDH) in pediatric intensive care units (PICU). Little is known about the impact on the quality of life (QoL) of children and their family. The aim of this study was to assess the impact of CDH treated according to the most recent concepts and methods outlined above on child survivors’ QoL and their parents’ QoL.Patients and methodsThis study incorporated a cross-sectional design performed in two PICU (Marseille, France). Families of CDH survivors born between 1999 and 2008 were eligible. The following data were recorded: socio-demographics, antenatal history and delivery, initial hospitalization history. Self-reported data were collected by mail, including current clinical problems of the children (13-symptom list), children’s QoL (Kidscreen-27 questionnaire), and parents’ QoL (Short-Form 36 questionnaire). Children’s QoL score was compared with controls and QoL of survivors of childhood leukemia. Parent’s QoL was compared with controls. Non-parametric statistics were employed.ResultsForty-two families agreed to participate and questionnaires were completed by 32 of them. Twenty-one children had a current clinical problems related to CDH. All the QoL scores of CHD survivors were significantly lower compared with controls. The physical well-being dimension was significantly higher for CHD survivors compared with survivors of childhood leukemia. Gastro-esophageal reflux at discharge, antenatal diagnosis, length of stay in the PICU, and neuropsychological and respiratory issues significantly impacted QoL scores of children. The parents of CHD survivors had significantly poorer score in emotional role dimension compared with controls.ConclusionThe impact of CDH on QoL seems to be important and must be understood by clinicians who treat these children and their parents.

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Consistency as regards the perceived intention of care among all members of the health care team is essential to support parents facing a possible fatal outcome. Attitudes and practices at Multidisciplinary Centers for Prenatal Diagnosis need to be shaped on a national basis.

BackgroundWhen an incurable fetal condition is detected, some women (or couples) would rather choose to continue with the pregnancy than opt for termination of pregnancy for medical reasons, which, in France, can be performed until full term. Such situations are frequently occurring and sometimes leading to the implementation of neonatal palliative care. The objectives of this study were to evaluate the practices of perinatal care french professionals in this context; to identify the potential obstacles that might interfere with the provision of an appropiate neonatal palliative care; and, from an opposite perspective, to determine the criteria that led, in some cases, to offer this type of care for prenatally diagnosed lethal abnormality.MethodsWe used an email survey sent to 434 maternal-fetal medicine specialists (MFMs) and fetal care pediatric specialists (FCPs) at 48 multidisciplinary centers for prenatal diagnosis (MCPD).ResultsForty-two multidisciplinary centers for prenatal diagnosis (87.5%) took part. In total, 102 MFMs and 112 FCPs completed the survey, yielding response rate of 49.3%. One quarter of professionals (26.2%) estimated that over 20% of fetal pathologies presenting in MCPD could correspond to a diagnosis categorized as lethal (FCPs versus MFMs: 24% vs 17.2%, p = 0.04). The mean proportion of fetal abnormalities eligible for palliative care at birth was estimated at 19.30% (± 2.4) (FCPs versus MFMs: 23.4% vs 15.2%, p = 0.029). The degree of diagnostic certainty appears to be the most influencing factor (98.1%, n = 207) in the information provided to the pregnant woman with regard to potential neonatal palliative care. The vast majority of professionals, 92.5%, supported considering the practice of palliative care as a regular option to propose antenatally.ConclusionsOur study reveals the clear need for training perinatal professionals in perinatal palliative care and for the standardization of practices in this field.

Background In emergency departments, for some patients, death is preceded by a decision of withholding or withdrawing life‐sustaining treatments. This concerns mainly patients over 80, with many comorbidities. The decision‐making process of these decisions in emergency departments has not been extensively studied, especially for noncommunicating patients. Aim The purpose of this study is to describe the decision‐making process of withholding and withdrawing life‐sustaining treatments in emergency departments for noncommunicating patients and the outcome of said patients. Design We conducted a prospective multicenter study in three emergency departments of university hospitals from September 2015 to January 2017. Results We included 109 patients in the study. Fifty‐eight (53.2%) patients were coming from nursing homes and 52 (47.7%) patients had dementia. Decisions of withholding life‐sustaining treatment concerned 93 patients (85.3%) and were more frequent when a surrogate decision maker was present 61 (65.6%) versus seven (43.8%) patients. The most relevant factors that lead to these decisions were previous functional limitation (71.6%) and age (69.7%). Decision was taken by two physicians for 80 patients (73.4%). The nursing staff and general practitioner were, respectively, involved in 31 (28.4%) and two (1.8%) patients. A majority of the patients had no advance directives (89.9%), and the relatives were implicated in the decision‐making process for 96 patients (88.1%). Death in emergency departments occurred for 47 patients (43.1%), and after 21 days, 84 patients (77.1 %) died. Conclusion There is little anticipation in end‐of‐life decisions. Discussion with patients concerning their end‐of‐life wishes and the writing of advance directives, especially for patients with chronic diseases, must be encouraged early.

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BackgroundThe sequelae of extremely preterm birth have an impact on the quality of life (QoL) of these children. Standardized assessment of their QoL is rarely done in France. The aim of this study is to examine among all the types of physicians involved in the management of children born extremely preterm, their knowledge, use in routine practice and expectations concerning QoL assessment of these children using standardized questionnaires.MethodsProspective survey among heads of obstetric, neonatal medicine and paediatric neurology departments, by means of questionnaires. Two qualitative methods were used: focus groups and Delphi method.ResultsSeventy-eight physicians participated (obstetricians 24%, neonatologists 58%, paediatric neurologists 18%). The physicians considered QoL a relevant concept which they assessed subjectively. They expressed a need for information on methods of assessment. An ideal QoL questionnaire was described. Expectations regarding availability of QoL data were expressed from a medical, family and societal perspective. The impact of QoL measurement on the ethical aspect of decision-making was approached, in particular the potential impact of this tool on the decision made. Expectations were found to differ between specialties.ConclusionThis original study reports the perspective of experts on taking into consideration the QoL of children born extremely preterm. This is a subjective notion that is difficult to implement and which may influence therapeutic choices.