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

Autor: 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
Přispěvatelé: 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, École normale supérieure - Lyon (ENS Lyon)-Université Lumière - Lyon 2 (UL2)-Université Claude Bernard Lyon 1 (UCBL)
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Thérapie
Thérapie, 2019, 74 (1), pp.9-15. ⟨10.1016/j.therap.2018.11.012⟩
Thérapie, EDP Sciences, 2019, 74 (1), pp.9-15. ⟨10.1016/j.therap.2018.11.012⟩
ISSN: 1958-5578
0040-5957
Popis: 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.
Databáze: OpenAIRE
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