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1. The contribution of genomics in the medicine of tomorrow, clinical applications and issues

Author

Florence Gaillard-Bigot, Patrice Denèfle, Nathalie Varoqueaux, Damien Sanlaville, Jean-François Guérin, Lionel Perrier, Olivier Perche, Julia Morere, Caroline Guillot, Pascal Bilbault, François Gueyffier, Pierre-Henry Longeray, Guillaume Grenet, Élodie Bégué, Bruno Laviolle, Julien Thevenon, Hélène Espérou, Service de Pharmacologie [Rennes], CHU Pontchaillou [Rennes], Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Généthon, Evaluation et modélisation des effets thérapeutiques, Département biostatistiques et modélisation pour la santé et l'environnement [LBBE], Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS)-Laboratoire de Biométrie et Biologie Evolutive - UMR 5558 (LBBE), Université de Lyon-Université de Lyon-Institut National de Recherche en Informatique et en Automatique (Inria)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Centre National de la Recherche Scientifique (CNRS), Ligue Nationale Contre le Cancer - Paris, Ligue Nationale Contre le Cancer (LNCC), Les Hôpitaux Universitaires de Strasbourg (HUS), Agence de la biomédecine [Saint-Denis la Plaine], Hypoxie : Physiopathologie Respiratoire et Cardiovasculaire (HP2 ), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Hospices Civils de Lyon (HCL), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Fédération française des diabétiques, Centre Hospitalier Régional d'Orléans (CHRO), Centre Léon Bérard [Lyon], Groupe d'Analyse et de Théorie Economique Lyon - Saint-Etienne (GATE Lyon Saint-Étienne), École normale supérieure de Lyon (ENS de Lyon)-Université Lumière - Lyon 2 (UL2)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Centre National de la Recherche Scientifique (CNRS), Service de Cytogénétique (HFME), Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Roche SAS, Neuilly-sur-Seine, France, Laboratoire Roche SAS, The advent of a new paradigm induced by the massive deployment of high-throughput sequencing raises economic and organisational issues. The evaluation of the production cost of genome sequences shows a notable change in the production costs of a gene panel targeted by next-generation sequencing (NGS) according to indications, enrichment techniques, retained sequencing, or the number of patients per run. In France, for example, the cost per patient (from the receipt of samples to the return of results to prescribers) varies from one to three depending on the laboratories [17]. What about the cost of genome sequencing? One can assume that production costs will largely depend on the organisational model chosen and its ability to integrate multiple technical constraints (prescription portals, automated extraction systems, production platform, IT infrastructure, data analysis, rendering of results, interoperability with patient records, etc.).The medico-economic assessment of the genome-wide sequencing strategy is essential to inform policy makers on the cost-effectiveness (or not) of one or more innovative health strategies compared to the reference strategy (s). These assessments are planned in the pilot projects of the France genomics 2025 plan. This approach has well-known benefits such as the absence (most often) of selection bias. In contrast, the time horizon of the economic evaluation is usually limited to the follow-up period of the trial and differential cost-result ratio (DCRR) is not always expressed in cost per year of life gained in good health. These can also emanate from modelling. The review of the literature published by Schwarze et al. on genome sequencing reports a very limited number (N = 8) of publications including a complete medico-economic assessment (i.e. that integrates economic considerations and clinical efficacy) [18]. Furthermore, the heterogeneity of the efficacy criteria does not favour comparisons between studies. Only one of them expresses the DCRR in cost per year of life gained in good health [19]., Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Roche, Université de Lyon, Ligue Nationnale Contre le Cancer, Hypoxie et physiopathologies cardiovasculaire et respiratoire, Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Groupe d'analyse et de théorie économique (GATE Lyon Saint-Étienne), Centre National de la Recherche Scientifique (CNRS)-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université Lumière - Lyon 2 (UL2)-École normale supérieure - Lyon (ENS Lyon), Dao, Taï, and École normale supérieure - Lyon (ENS Lyon)-Université Lumière - Lyon 2 (UL2)-Université Claude Bernard Lyon 1 (UCBL)

Subjects
Big Data, Process (engineering), [SDV]Life Sciences [q-bio], Commodity, Population, education, Genomics, Population health, Therapeutics, Social issues, 030226 pharmacology & pharmacy, [SHS]Humanities and Social Sciences, Translational Research, Biomedical, 03 medical and health sciences, 0302 clinical medicine, Diagnosis, Humans, Genomic medicine, Pharmacology (medical), Precision Medicine, education.field_of_study, Evidence-Based Medicine, business.industry, Ethical issues, Prognosis, Personalized medicine, 3. Good health, [SDV] Life Sciences [q-bio], Whole genome sequencing, Engineering ethics, France, [SHS] Humanities and Social Sciences, business
Abstract

International audience; Fifteen years after the completion of first human genome sequencing, the technique is almost a commodity but there is still little evidence of its usefulness as a diagnostic, prognostic or therapeutic tool. In France, the France genomics plan 2025 was launched in 2015 with the goal of integrating genomic tests into clinical practice and developing a National genomics network including industrial partnerships. Reflection on scientific applications and operational or societal issues is needed to make recommendations to help better associate Genomics and the medicine of tomorrow. In the perspective of personalized Evidence-based Medicine, studies with an appropriate methodological level to improve the definition of evidence should be promoted. The many operational challenges require the implementation of organisations and means to streamline the process of results reporting, and regulatory adaptations concerning the status of professions involved, the management of data generated, and the consent of patients. In parallel, genetic training for healthcare professionals and raising awareness on genetic tests for the public should be considered. The ethical stake should also be taken into account, especially on the participation of the patient in decisions concerning them and integrating the notion of uncertainty into the information given. The sociological effects on the experience and expectations of patients and the general population towards genomic medicine should also be evaluated to improve information, prevention and support for people. Finally, medico-economic studies must be conducted to inform policy-makers on the cost-effectiveness of complete genome sequencing for population health.

Published
2019
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2. Les bénéfices de 'l’expérience patient'

Author

Caroline Guillot

Subjects
Nursing, business.industry, Health care, Patient experience, Medicine, Chronic patient, business, General Nursing, Medical systems
Abstract

The doctor-patient relationship tends to reconfigure. The chronic patient is recognised for the ability to perform certain healthcare activities, but also for a type of expertise related to his or her personal experience with illness. However, what are the individual and collective benefits of this expertise? How is it enhanced by connected medical systems?

Published
2019
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3. Un protocole de coopération pour le suivi des patients après chirurgie bariatrique

Author

Anne-Françoise Foiry, Judith Aron Wisnewsky, Alexia Barbelanne, Sylvie Wolf, and Caroline Guillot

Subjects
National health, Protocol (science), 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, business.industry, Medicine, 030209 endocrinology & metabolism, 030212 general & internal medicine, General Medicine, business, General Nursing, Surgery
Abstract

Professional cooperation protocols have recently been developed by the French national health authority and regional health agencies. They enable paramedical staff to perform procedures usually carried out by doctors. In the framework of bariatric surgery, the follow-up of patients after surgery is thereby assured by specialist nurses. They can make a diagnosis and prescribe vitamins, minerals and tests.

Published
2016
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4. Ethics of Connected Healthcare: the Connected Individual

Author

Robert Picard, Myriam Lewkowicz, Caroline Guillot, and Jean-Baptiste Faure

Subjects
business.industry, Health care, Technical systems, Meaning (existential), Sociology, Public relations, business
Abstract

In the introduction, we touched on the meaning of technical systems aimed at improving healthcare for individuals. Referring to ethics, we are going further: we want to question the “good” effect that these solutions claim to bring to the target individuals. This good will not be obtained despite them. However, the terms “management of change” and “acceptability” tend to take for granted the fact that connected healthcare solutions will prevail for excellent reasons, and that they must and to be accepted by citizens. The approach explored in this chapter challenges this vision, by instead placing the individual’s experience at the forefront.

Published
2018
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5. Diabetes self-monitoring devices and transformations in 'patient work'

Author

Caroline Guillot and Alexandre Mathieu-Fritz

Subjects
medicine.medical_specialty, 030505 public health, Sociology and Political Science, business.industry, Work (physics), Illness experience, Blood sugar, Cognition, Temporality, medicine.disease, 3. Good health, Education, 03 medical and health sciences, 0302 clinical medicine, History and Philosophy of Science, Anthropology, Reflexivity, Diabetes mellitus, Self-monitoring, Medicine, 030212 general & internal medicine, 0305 other medical science, business, Intensive care medicine
Abstract

With traditional capillary blood glucose readers, diabetes patients puncture a fingertip and measure the level of glucose in the blood sample. More recently, continuous blood glucose measuring devices have become available, which not only show current blood sugar levels, but also upward and downward trends and changes over the past few hours. The aim of our analysis is to describe the specific effects of the use of these diabetes self-monitoring systems on “patient work” and on the illness experience. We will show how their use is accompanied by different forms of personal experiment and learning and reconfigures “patient work” by partially releasing patients from certain social, material, spatial, corporeal and cognitive constraints. Because these systems produce and represent data on blood sugar levels over different timeframes, patients can develop new ways of interpreting their symptoms and different ways of anticipating short-term blood glucose fluctuations. Other forms of reflexivity and self-knowledge thus emerge, bringing changes in the temporality of the day-to-day illness experience, and potentially leading to adjustments in treatment and a reduction in some of the anxieties associated with the disorder.

Published
2017
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6. Advantages and limitations of online communities of patients for research on health products

Author

Thierry Escudier, Laure Guéroult-Accolas, Antoine Audry, Marie Lang, Elena Perrin, François Montastruc, Philippe Maugendre, Mathieu Molimard, Sophie Ravoire, Muriel Malbezin, Joëlle Micallef, Lauren Demerville, Michael Chekroun, Pascal Bilbault, Evelyne Pierron, Lionel Reichardt, Frantz Thiessard, Caroline Guillot, Institut de Neurosciences des Systèmes (INS), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Knowledge management, media_common.quotation_subject, Face (sociological concept), Bioinformatics, 030226 pharmacology & pharmacy, Field (computer science), 03 medical and health sciences, 0302 clinical medicine, Resource (project management), Phenomenon, Pharmacovigilance, Experiential knowledge, Medicine, Humans, Pharmacology (medical), 030212 general & internal medicine, ComputingMilieux_MISCELLANEOUS, media_common, Internet, Consumer Health Information, Online participation, business.industry, [SCCO.NEUR]Cognitive science/Neuroscience, Social Support, Feeling, business, Social Media
Abstract

The way patients and their caregivers share information on various online platforms about health topics and their own experiential knowledge presents new potential environments for research, particularly as concerns health products. The information provided individually and voluntarily by patients who are members of these online communities is a new resource for identifying and understanding precisely how health products are used, assessing their effectiveness, quantifying potential adverse effects in real-life situations, detecting subtle signs that are significant for experts in pharmacovigilance and addiction studies, and developing new assessment tools to help form new working hypotheses. How patients freely express their experiences and feelings and the reality of what they share also opens the way for societal research into health products, a field that is still under-explored. Well-established regulations govern research into health products, which uses resources and methodologies that have changed little over the years. However, the development of online communities of patients presents new possibilities in this field. The challenge we face today is defining their place among traditional research techniques. This place cannot be accepted by all stakeholders unless we first establish a firm understanding of the advantages, limitations, and constraints of these communities. The round table on this topic endeavoured to: explore these issues and develop a better understanding of the phenomenon and the different varieties of online communities and networks for patients; identify possible advantages, special features, and methodological, regulatory, and ethical limitations that researchers currently face; and finally, to put forward the first recommendations in this growing field of research.

Published
2016
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7. Mobile ICTs and physical mobility: Review and research agenda

Author

Caroline Guillot, Alain Rallet, Anne Aguilera, Laboratoire Ville, Mobilité, Transport (LVMT ), École des Ponts ParisTech (ENPC)-Institut Français des Sciences et Technologies des Transports, de l'Aménagement et des Réseaux (IFSTTAR)-Université Paris-Est Marne-la-Vallée (UPEM), Analyse des Dynamiques Industrielles et Sociales (ADIS), Université Paris-Sud - Paris 11 (UP11)-Département d'Economie, ANR-06-CORP-0026,MOBITIC,Constitution d'un corpus de données sur les usages des outils mobiles de communication et leurs relations aux comportements de mobilité(2006), and Institut Français des Sciences et Technologies des Transports, de l'Aménagement et des Réseaux (IFSTTAR)-Université Paris-Est Marne-la-Vallée (UPEM)-École des Ponts ParisTech (ENPC)

Subjects
050210 logistics & transportation, business.industry, media_common.quotation_subject, 05 social sciences, 0211 other engineering and technologies, Poison control, 021107 urban & regional planning, Transportation, Advertising, 02 engineering and technology, [SHS.GEO]Humanities and Social Sciences/Geography, Management Science and Operations Research, Data science, Transport economics, Mobile phone, Information and Communications Technology, Complementarity (molecular biology), Perception, 0502 economics and business, The Internet, Sociology, business, Physical mobility, Civil and Structural Engineering, media_common
Abstract

International audience; The question of the relationship between the spread of communication tools and the physical mobility of individuals is not new and arose with the arrival of the fixed telephone and, more recently, the development of the Internet and especially e-commerce. The extraordinary spread of individual, especially portable, communication tools like the mobile phone, has recently generated new interest in this topic in the fields of transportation economics, geography and sociology. This article discusses the main topics that have been explored, from the debate between complementarity and substitution to analyses in terms of interactions with the spatiotemporal organization of daily activities, the size and maintenance of social networks, and, finally, perception of travel and spaces. We then identify several issues that we think merit further exploration.

Published
2012
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