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1. Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

Author

Delphine Genevaz, Armelle Arnoux, Catherine Marcel, Anaïs Brassier, Samia Pichard, François Feillet, François Labarthe, Brigitte Chabrol, Marc Berger, Anne-Sophie Lapointe, Yvann Frigout, Bénédicte Héron, Gilles Chatellier, and Nadia Belmatoug

Subjects
Lysosomal diseases, Transition from childhood to adulthood, Patient survey, Patient opinion, Medicine
Abstract

Abstract Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successful TCA can help patient who reach adulthood to avoid disruption to health care. In France, some TCA initiatives have been taken by referral centers but in view of the problems encountered by Vaincre les Maladies Lysosomales (VML), the LD patient association, they seem to be insufficient. The aim of this study is to determine the current state of the TCA process and to identify actions to improve it through interviews with patient families and physicians in LD referral centers. The study is based upon an observational, non-interventional, cross-sectional, national survey which used two anonymous questionnaires. These questionnaires, developed by a scientific committee including representatives from VML and medical specialists in LD, were sent to patients who were receiving care in pediatric departments at age 15 years or older. Questionnaires were also sent to their referral pediatricians. Results Fifty-four patients were included. Forty-two questionnaires were completed by patients and their corresponding physicians and 12 were completed by physicians only. The majority of the patients (80%) were informed that transfer to adult healthcare would occur, but 52% were informed after their eighteenth birthday. Forty-eight percent indicated that they were informed that a TCA coordinator would be appointed; for 39% the time frame for the transfer was communicated, and 31% were informed of the composition of the adult medical team. Among the actions that patients rated as “important/very important”, and considered to be a priority in their comments, the most frequently cited were the provision of explanatory documents on the TCA (94%), the transmission of the medical file from the pediatric sector to the adult sector (94%) and a joint consultation with both pediatrician and adult unit physician (91%). Physicians were in agreement concerning the primary importance of the last two actions. Conclusion This study provides a basis for the deployment, on the national level, of transition programs which include specific actions that patients view as priorities.

Published
2022
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2. Transition from child to adult health care for patients with lysosomal storage diseases in France: current status and priorities—the TENALYS study, a patient perspective survey

Author

Samia Pichard, Marc G. Berger, Armelle Arnoux, Nadia Belmatoug, Delphine Genevaz, Brigitte Chabrol, François Feillet, François Labarthe, Anaïs Brassier, Yvann Frigout, Gilles Chatellier, Anne-Sophie Lapointe, Bénédicte Héron, Catherine Marcel, Role of intra-Clonal Heterogeneity and Leukemic environment in ThErapy Resistance of chronic leukemias (CHELTER), and Université Clermont Auvergne (UCA)

Subjects
Adult, Gerontology, Adolescent, Transition (fiction), Perspective (graphical), [SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/Hematology, General Medicine, Lysosomal Storage Diseases, Young Adult, Cross-Sectional Studies, Surveys and Questionnaires, Humans, Pharmacology (medical), France, Child, Psychology, Delivery of Health Care, Genetics (clinical), Adult health
Abstract

Background Transition from childhood to adulthood (TCA) is usually difficult in rare, progressive and multisystemic diseases. New treatments and modalities of care for many lysosomal diseases (LD) can increase life expectancy, and a successful TCA can help patient who reach adulthood to avoid disruption to health care. In France, some TCA initiatives have been taken by referral centers but in view of the problems encountered by Vaincre les Maladies Lysosomales (VML), the LD patient association, they seem to be insufficient. The aim of this study is to determine the current state of the TCA process and to identify actions to improve it through interviews with patient families and physicians in LD referral centers. The study is based upon an observational, non-interventional, cross-sectional, national survey which used two anonymous questionnaires. These questionnaires, developed by a scientific committee including representatives from VML and medical specialists in LD, were sent to patients who were receiving care in pediatric departments at age 15 years or older. Questionnaires were also sent to their referral pediatricians. Results Fifty-four patients were included. Forty-two questionnaires were completed by patients and their corresponding physicians and 12 were completed by physicians only. The majority of the patients (80%) were informed that transfer to adult healthcare would occur, but 52% were informed after their eighteenth birthday. Forty-eight percent indicated that they were informed that a TCA coordinator would be appointed; for 39% the time frame for the transfer was communicated, and 31% were informed of the composition of the adult medical team. Among the actions that patients rated as “important/very important”, and considered to be a priority in their comments, the most frequently cited were the provision of explanatory documents on the TCA (94%), the transmission of the medical file from the pediatric sector to the adult sector (94%) and a joint consultation with both pediatrician and adult unit physician (91%). Physicians were in agreement concerning the primary importance of the last two actions. Conclusion This study provides a basis for the deployment, on the national level, of transition programs which include specific actions that patients view as priorities.

Published
2022
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4. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)

Author

Julien Thevenon, Sophie Dupuis-Girod, Pierre Ancet, Aurélie Godard, Lorraine Joly, Aurore Pélissier, Christine Juif, Audrey Putoux, Laurence Faivre, Elodie Cretin, Elodie Gautier, Gaetan Lesca, Dominique Salvi, Paulette Morin, Yannis Duffourd, Alice Masurel, Christel Thauvin-Robinet, Olivier Putois, Nolwenn Jean-Marçais, Christine Peyron, Aline Chassagne, Françoise Houdayer, Daphné Lehalle, Marie-Pierre Cordier, D Sanlaville, Massimiliano Rossi, Sophie Béjean, Sarah Kidri, Anne-Sophie Lapointe, Jean-Baptiste Rivière, Patrick Edery, and Marianne Till

Subjects
Adult, Male, Parents, medicine.medical_specialty, Adolescent, media_common.quotation_subject, MEDLINE, Behavioural sciences, Context (language use), Ambivalence, Choice Behavior, Article, Developmental psychology, 03 medical and health sciences, Young Adult, Rare Diseases, Exome Sequencing, Genetics, medicine, Humans, Exome, Child, Genetics (clinical), Exome sequencing, Qualitative Research, media_common, 0303 health sciences, 030305 genetics & heredity, Infant, Newborn, Infant, Feeling, Child, Preschool, Medical genetics, Female, Psychology, Qualitative research
Abstract

Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty.

Published
2019

5. Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations

Author

Daniel Zarca, Anne-Paule Gimenez-Roqueplo, Carole Corsini, Dominique Vaur, Nelly Burnichon, Sylviane Olschwang, Christian Hervé, Stéphane Richard, Virginie Galibert, Pascal Pujol, Nadem Soufir, Thierry Frebourg, I. Raingeard, Pierre Vande Perre, Sophie Giraud, Laurence Faivre, Xavier Rebillard, Michèle Anahory, Damien Sanlaville, Olivier Ingster, Muriel Le Bidan, Marc Spielmann, Alain Toledano, Anne Cambon-Thomsen, Brigitte Bressac-de Paillerets, Elisabeth Luporsi, Bernard Baertschi, David Azria, Olivier Cussenot, Pascal Hammel, Noëlle Bastide, Karen Baudry, Isabelle Coupier, Olivier Putois, Arash Rafii, Jean-Philippe Spano, Joseph Gligorov, Sarah Amar, Caroline Zorn, Patricia Niccoli, Michèle Vintraud, Anne-Sophie Lapointe, Olivier Caron, Jean-Marc Rey, David Geneviève, Pierre Le Coz, Endocrinologie moléculaire et cellulaire des cancers, Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), CHU Dijon, Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Institut de médecine génomique et d’immunothérapie (Genomic and Immunotherapy Medical Institute) (institut GIMI), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER-UNICANCER-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS BFC)-FHU TRANSLAD (CHU de Dijon), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Comité d'éthique de l'Inserm = The Inserm Ethics Committee (CEI - IEC), Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Genève = University of Geneva (UNIGE), Laboratoire de biologie clinique et oncologique, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CIC Hôpital Bichat, AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine, Hôpital Saint-Louis, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7), Renault Innovation Silicon Valley, Service de génétique [Angers], Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital Bicêtre, Université Paris-Sud - Paris 11 (UP11)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Laboratoire d'Informatique Médicale et de BIOinformatique (LIM&BIO), Université Paris 13 (UP13), Laboratoire d'Informatique Fondamentale de Lille (LIFL), Université de Lille, Sciences et Technologies-Institut National de Recherche en Informatique et en Automatique (Inria)-Université de Lille, Sciences Humaines et Sociales-Centre National de la Recherche Scientifique (CNRS), Hôpital Beaujon, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-Hôpital Beaujon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut de Cancérologie de Lorraine - Alexis Vautrin [Nancy] (UNICANCER/ICL), Centre de Recherches Psychanalyse, Médecine et Société (CRPMS (EA_3522)), Université Paris Diderot - Paris 7 (UPD7), Laboratoire Ethique Politique et Santé (EA 4569), Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Faculté de Médecine (UPD5 Médecine), CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Immunociblage des Tumeurs et Ingenierie des Anticorps, Institut de Recherche en Cancérologie de Montpellier (IRCM - U1194 Inserm - UM), CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Génétique (Biologie pathologie), Département de biologie et pathologie médicales [Gustave Roussy], Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Santé et droits sexuels et reproductifs (Unité Ined - Inserm - Université Paris Sud - UVSQ) (UR14), Institut national d'études démographiques (INED), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Centre de Recherche pour les Pathologies Prostatiques [Paris] (CeRePP), Sorbonne Université (SU), Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Centre Léon Bérard [Lyon]-Hospices Civils de Lyon (HCL), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de génétique [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Sidra Medicine [Doha, Qatar], Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Université Fédérale Toulouse Midi-Pyrénées, Institut de médecine génomique et d’immunothérapie (institut GIMI), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), The Inserm Ethics Committee (IEC), University of Geneva [Switzerland], UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), Institut National de la Santé et de la Recherche Médicale (INSERM)-UFR de Médecine-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service d'Oncologie médicale [CHU Tenon], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), and UNICANCER-UNICANCER-Etablissement français du sang [Bourgogne-Franche-Comté] (EFS [Bourgogne-Franche-Comté])-FHU TRANSLAD (CHU de Dijon)

Subjects
0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Preventice medicine, MEDLINE, Genomics, Disclosure, 030105 genetics & heredity, Medical ethics, Genome, Article, 03 medical and health sciences, Neoplasms, Genetics research, Genetics, medicine, Humans, Genetic Testing, Precision Medicine, Cancer genetics, Genetics (clinical), Societies, Medical, business.industry, Evidence-based medicine, Sequence Analysis, DNA, Penetrance, 3. Good health, Family medicine, Practice Guidelines as Topic, Medical genetics, Personalized medicine, France, business
Abstract

IF 3.636 (2017); International audience; 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.

Published
2018
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6. Secondary findings from next generation sequencing: Psychological and ethical issues. Family and patient perspectives

Author

L. Joly, Marie Lise Babonneau, Anne-Sophie Lapointe, Christel Thauvin-Robinet, S. Delanoue, Laurence Faivre, D Sanlaville, Elodie Gautier, Patrick Edery, H. Chaumet, Christine Juif, Olivier Putois, Françoise Houdayer, C.C. Michon, Philippe Charron, Aline Chassagne, Marcela Gargiulo, S. Staraci, and Elodie Cretin

Subjects
0301 basic medicine, Adult, medicine.medical_specialty, media_common.quotation_subject, Context (language use), 030105 genetics & heredity, Ambivalence, Grounded theory, 03 medical and health sciences, Quality of life (healthcare), Informed consent, Exome Sequencing, Genetics, medicine, Humans, Ethics, Medical, Genetic Testing, Genetics (clinical), media_common, Aged, Aged, 80 and over, Incidental Findings, Genome, Human, Equity (finance), Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, General Medicine, Genomics, Middle Aged, Focus group, 3. Good health, 030104 developmental biology, Family medicine, Psychology, Autonomy
Abstract

Access to active search for actionable secondary findings (SF) in diagnostic practice is a major psychological and ethical issue for genomic medicine. In this study, we analyzed the preferences of patients and their families regarding SF and identified the reporting procedures necessary for informed consent. We interviewed parents of patients with undiagnosed rare diseases potentially eligible for exome sequencing and patients affected by the diseases listed in the ACMG recommendations. Four focus groups (FG) were formed: parents of patients with undiagnosed rare diseases (FG1, n = 5); patients with hereditary cancers (FG2, n = 10); patients with hereditary cardiac conditions (FG3, n = 3); and patients with metabolic diseases (FG4, n = 3). Psychologists presented three broad topics for discussion: 1. Favorable or not to SF access, 2. Reporting procedures, 3. Equity of access. Discussions were recorded and analyzed using simplified Grounded Theory. Overall, 8 participants declared being favorable to SF because of the medical benefit (mainly FG1); 11 were unfavorable because of the psychological consequences (mainly FG2, FG3, FG4); 2 were ambivalent. The possibility of looking for SF in minors was debated. The 4 key information-based issues for participants ranked as follows: explanation of SF issues, autonomy of choice, importance of a reflection period, and quality of interactions between patients and professionals. Examining equity of access to SF led to philosophical discussions on quality of life. In conclusion, individual experience and life context (circumstances) were decisive in participants’ expectations and fears regarding access to SF. Additional longitudinal studies based on actual SF disclosure announcements are needed to establish future guidelines.

Published
2018

7. Ethical management in the constitution of a European database for leukodystrophies rare diseases

Author

Diane d'Audiffret, Odile Boespflug-Tanguy, Boris Loeve, Grégoire Moutel, Ingrid Callies, Nathalie Duchange, Anne-Sophie Lapointe, S. Darquy, Laboratoire d'éthique médicale et de médecine légale, Université Paris V - Paris Descartes, Centre de référence des leucodystrophies, Assistance publique - Hôpitaux de Paris (AP-HP), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Robert Debré - Université Paris VII - Paris Diderot, Unité de Médecine Sociale, Assistance publique - Hôpitaux de Paris (AP-HP) - Hôpital Corentin-Celton, European Project : 241622, HEALTH, FP7-HEALTH-2009-single-stage, LEUKOTREAT(2010), Laboratoire Ethique Politique et Santé (EA 4569), Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Corentin Celton [Issy-les-Moulineaux], Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), European Project: 241622,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,LEUKOTREAT(2010), Duchange, Nathalie, Therapeutic challenge in Leukodystrophies: Translational and ethical research towards clinical trials - LEUKOTREAT - - EC:FP7:HEALTH2010-03-01 - 2013-08-31 - 241622 - VALID, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)

Subjects
Male, leukodystrophy, Databases, Factual, education, rare disease, Context (language use), computer.software_genre, Ethics, Research, health database, [SDV:ETH] Sciences du Vivant/Ethique, Rare Diseases, Leukoencephalopathies, Information ethics, Humans, Medicine, Bioethical Issues, Patient participation, Project management, Research ethics, Database, ComputingMilieux_THECOMPUTINGPROFESSION, business.industry, ethics committee, ethical management, [SDV.ETH] Life Sciences/Ethics, Disease Management, Charter, General Medicine, [SDV.ETH] Life Sciences [q-bio]/Ethics, 3. Good health, [SDV.ETH]Life Sciences [q-bio]/Ethics, Europe, Data sharing, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), [SDV:ETH] Life Sciences/Ethics, business, computer, Medical ethics
Abstract

International audience; BACKGROUND: The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations. The overarching goal is to apply core ethics principles to specific project needs and ensure patient rights and protection in research addressing the context of these rare diseases. AIM: This paper looks at how ethical issues were identified and handled at project management level when setting up an ethics committee. METHODS: Through a work performed as a co-construction between health professionals, ethics experts, and patient representatives, we expose the major ethical issues identified. RESULTS: The committee acts as the forum for tackling specific issues tied to data sharing and patient participation: the thin line between care and research, the need for a charter establishing the commitments binding health professionals and the information items to be delivered. Ongoing feedback on the database, including delivering global results in a broad-audience format, emerged as a key recommendation. Information should be available to all patients in the partner countries developing the database and should be scaled to different patient profiles. CONCLUSION: This work led to a number of recommendations for ensuring transparency and optimizing the partnership between scientists and patients.

Published
2014
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8. Table ronde 6 - Quelles sont les responsabilités de la société vis-à-vis des personnes atteintes de maladies rares ?

Author

Gilles Roche, Vololona Rabeharisoa, Florence Bordon-Pallier, Brigitte Chabrol, Anne-Sophie Lapointe, Pierre Le Coz, Service de Neurologie Pédiatrique, Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Anthropologie bio-culturelle, Droit, Ethique et Santé (ADES), Aix Marseille Université (AMU)-EFS ALPES MEDITERRANEE-Centre National de la Recherche Scientifique (CNRS), Centre de Sociologie de l'Innovation i3 (CSI i3), MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Centre National de la Recherche Scientifique (CNRS), Mines Paris - PSL (École nationale supérieure des mines de Paris), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut interdisciplinaire de l’innovation (I3), and Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, General Medicine, 030217 neurology & neurosurgery, General Biochemistry, Genetics and Molecular Biology, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, [SDV.ETH]Life Sciences [q-bio]/Ethics
Abstract

International audience

Published
2016
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9. Patient/family views on data sharing in rare diseases: study in the European LeukoTreat project.: Survey assessing data sharing in leukodystrophies

Author

Samia Guerroui, Nathalie Duchange, S. Darquy, Diane d'Audiffret, Odile Boespflug-Tanguy, Anne-Sophie Lapointe, Marie-Louise Vendeville, Julie Champagnat, Grégoire Moutel, Laboratoire d'éthique médicale et de médecine légale (EA 4569), Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC), Unité de médecine sociale, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Corentin Celton [Issy-les-Moulineaux], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Université d'Auvergne - Clermont-Ferrand I (UdA), Service de neuropédiatrie [Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies (PROTECT), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie pédiatrique et maladies métaboliques, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré-Université Paris Diderot - Paris 7 (UPD7), LeukoTreat, European Project: 241622,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,LEUKOTREAT(2010), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), and Université Paris Diderot - Paris 7 (UPD7)-Hôpital Robert Debré-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
Adult, 0301 basic medicine, Questionnaires, Biomedical Research, Databases, Factual, Referral, Health Personnel, 030105 genetics & heredity, Bioinformatics, Article, Leukodystrophies, Database, 03 medical and health sciences, Rare Diseases, Leukoencephalopathies, Informed consent, Patient opinion, Genetics, Humans, Family, Dna diagnosis, Genetics (clinical), Pharmaceutical industry, Clinical Trials as Topic, Medical education, [SDV.GEN]Life Sciences [q-bio]/Genetics, [SDV.MHEP.PED]Life Sciences [q-bio]/Human health and pathology/Pediatrics, Informed Consent, Information Dissemination, business.industry, Corporate governance, Middle Aged, Research Personnel, 3. Good health, [SDV.ETH]Life Sciences [q-bio]/Ethics, Europe, Data sharing, Data access, Psychology, business, Rare disease
Abstract

International audience; The 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.

Published
2016
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11. Development of a national Patient Therapeutic Education program (TPE) for patients with Gaucher disease type 1 at Bordeaux University Hospital

Author

Jérôme Stirnemann, Isabelle Raymond, Anne Sophie Lapointe, Marc G. Berger, Eva Toussaint, Yves Magar, Fabrice Camou, Delphine Genevaz, Christine Serratrice, Fabienne Eyquard, and Nadia Belmatoug

Subjects
medicine.medical_specialty, Pediatrics, business.industry, Endocrinology, Diabetes and Metabolism, Disease, Therapeutic education, University hospital, Biochemistry, Endocrinology, Family medicine, Genetics, Medicine, business, Molecular Biology
Published
2014
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12. Ethical management in the constitution of a European database for leukodystrophies rare diseases.

Author

Duchange, Nathalie, Darquy, Sylviane, d'Audiffret, Diane, Callies, Ingrid, Anne-Sophie Lapointe, Loeve, Boris, Boespflug-Tanguy, Odile, and Moutel, Grégoire

Abstract

Background The EU LeukoTreat program aims to connect, enlarge and improve existing national databases for leukodystrophies (LDs) and other genetic diseases affecting the white matter of the brain. Ethical issues have been placed high on the agenda by pairing the participating LD expert research teams with experts in medical ethics and LD patient families and associations. The overarching goal is to apply core ethics principles to specific project needs and ensure patient rights and protection in research addressing the context of these rare diseases. Aim This paper looks at how ethical issues were identified and handled at project management level when setting up an ethics committee. Methods Through a work performed as a co-construction between health professionals, ethics experts, and patient representatives, we expose the major ethical issues identified. Results The committee acts as the forum for tackling specific issues tied to data sharing and patient participation: the thin line between care and research, the need for a charter establishing the commitments binding health professionals and the information items to be delivered. Ongoing feedback on the database, including delivering global results in a broad-audience format, emerged as a key recommendation. Information should be available to all patients in the partner countries developing the database and should be scaled to different patient profiles. Conclusion This work led to a number of recommendations for ensuring transparency and optimizing the partnership between scientists and patients. [ABSTRACT FROM AUTHOR]

Published
2014
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