The contribution of genomics in the medicine of tomorrow, clinical applications and issues
Bruno Laviolle
(1, 2, 3)
,
Patrice Denèfle
(4)
,
François Gueyffier
(5)
,
Élodie Bégué
(6)
,
Pascal Bilbault
(7)
,
Helene Esperou
(8)
,
Florence Gaillard-Bigot
(9)
,
Guillaume Grenet
(10)
,
François Guérin
(11)
,
Caroline Guillot
(12)
,
Pierre-Henry Longeray
,
Julia Morere
,
Olivier Perche
(13)
,
Lionel Perrier
(14, 15)
,
Damien Sanlaville
(16)
,
Julien Thevenon
(17)
,
Nathalie Varoqueaux
(18)
1
Service de Pharmacologie [Rennes]
2 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
3 CIC - Centre d'Investigation Clinique [Rennes]
4 Généthon
5 Evaluation et modélisation des effets thérapeutiques
6 Ligue Nationale Contre le Cancer - Paris
7 HUS - Les Hôpitaux Universitaires de Strasbourg
8 Agence de la biomédecine [Saint-Denis la Plaine]
9 HP2 - Hypoxie : Physiopathologie Respiratoire et Cardiovasculaire
10 HCL - Hospices Civils de Lyon
11 IC UM3 (UMR 8104 / U1016) - Institut Cochin
12 Fédération française des diabétiques
13 CHRO - Centre Hospitalier Régional d'Orléans
14 Centre Léon Bérard [Lyon]
15 GATE Lyon Saint-Étienne - Groupe d'Analyse et de Théorie Economique Lyon - Saint-Etienne
16 HFME - Service de Cytogénétique
17 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
18 Roche SAS, Neuilly-sur-Seine, France
2 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
3 CIC - Centre d'Investigation Clinique [Rennes]
4 Généthon
5 Evaluation et modélisation des effets thérapeutiques
6 Ligue Nationale Contre le Cancer - Paris
7 HUS - Les Hôpitaux Universitaires de Strasbourg
8 Agence de la biomédecine [Saint-Denis la Plaine]
9 HP2 - Hypoxie : Physiopathologie Respiratoire et Cardiovasculaire
10 HCL - Hospices Civils de Lyon
11 IC UM3 (UMR 8104 / U1016) - Institut Cochin
12 Fédération française des diabétiques
13 CHRO - Centre Hospitalier Régional d'Orléans
14 Centre Léon Bérard [Lyon]
15 GATE Lyon Saint-Étienne - Groupe d'Analyse et de Théorie Economique Lyon - Saint-Etienne
16 HFME - Service de Cytogénétique
17 Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
18 Roche SAS, Neuilly-sur-Seine, France
François Gueyffier
- Fonction : Auteur
- PersonId : 178661
- IdHAL : francois-gueyffier
- ORCID : 0000-0002-9921-0977
- IdRef : 091433061
Pascal Bilbault
- Fonction : Auteur
- PersonId : 773279
- ORCID : 0000-0003-0904-4600
Guillaume Grenet
- Fonction : Auteur
- PersonId : 178674
- IdHAL : guillaume-grenet
- ORCID : 0000-0002-5237-2581
- IdRef : 197364624
Pierre-Henry Longeray
- Fonction : Auteur
Julia Morere
- Fonction : Auteur
Lionel Perrier
- Fonction : Auteur
- PersonId : 15600
- IdHAL : lionel-perrier
- ORCID : 0000-0003-4487-8723
- IdRef : 060772239
Julien Thevenon
- Fonction : Auteur
- PersonId : 964270
Résumé
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.
Format du dépôt | Annexe |
---|---|
Type de dépôt | Article dans une revue |
Résumé |
en
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.
|
Titre |
en
The contribution of genomics in the medicine of tomorrow, clinical applications and issues
|
Auteur(s) |
Bruno Laviolle
1, 2, 3
, Patrice Denèfle
4
, François Gueyffier
5
, Élodie Bégué
6
, Pascal Bilbault
7
, Helene Esperou
8
, Florence Gaillard-Bigot
9
, Guillaume Grenet
10
, François Guérin
11
, Caroline Guillot
12
, Pierre-Henry Longeray
, Julia Morere
, Olivier Perche
13
, Lionel Perrier
14, 15
, Damien Sanlaville
16
, Julien Thevenon
17
, Nathalie Varoqueaux
18
1
Service de Pharmacologie [Rennes]
( 184328 )
- Hôpital Pontchaillou 2 Rue Henri Le Guilloux, 35043 Rennes
- France
2
Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Ponchaillou]
( 301327 )
- 2 Rue Henri le Guilloux, 35000 Rennes
- France
3
CIC -
Centre d'Investigation Clinique [Rennes]
( 2610 )
- Rue Henri Le Guilloux - Pavillon Clémenceau 35033 Rennes Cedex 9
- France
4
Généthon
( 1064687 )
- 1 rue de l’Internationale, 9100 Evry
- France
5
Evaluation et modélisation des effets thérapeutiques
( 543540 )
- LBBE
43 Bld du 11 Novembre 1918 69622 VILLEURBANNE CEDEX
- France
6
Ligue Nationale Contre le Cancer - Paris
( 86045 )
- Ligue Nationale Contre le Cancer 14, Rue Corvisart 75013 Paris
- France
7
HUS -
Les Hôpitaux Universitaires de Strasbourg
( 211628 )
- 1 place de l'hôpital BP 426 67091 Strasbourg cedex
- France
8
Agence de la biomédecine [Saint-Denis la Plaine]
( 115378 )
- 1 avenue du stade de France
93212 SAINT-DENIS LA PLAINE Cedex
- France
9
HP2 -
Hypoxie : Physiopathologie Respiratoire et Cardiovasculaire
( 1041842 )
- Facultés de médecine et de pharmacie Domaine de la merci 38706 LA TRONCHE CEDEX
- France
10
HCL -
Hospices Civils de Lyon
( 300074 )
- 3 Quai des Célestins
69002 Lyon
- France
11
IC UM3 (UMR 8104 / U1016) -
Institut Cochin
( 106187 )
- 22 rue Méchain, 75014 Paris
- France
12
Fédération française des diabétiques
( 530668 )
- Paris
- France
13
CHRO -
Centre Hospitalier Régional d'Orléans
( 300639 )
- 14 Avenue de l'Hôpital, 45100 Orléans
- France
14
Centre Léon Bérard [Lyon]
( 20549 )
- 28, rue Laennec 69373 LYON Cedex 08
- France
15
GATE Lyon Saint-Étienne -
Groupe d'Analyse et de Théorie Economique Lyon - Saint-Etienne
( 102550 )
- 93, chemin des Mouilles 69130 Écully
6, rue Basse des Rives 42023 Saint-Étienne cedex 02
- France
16
HFME -
Service de Cytogénétique
( 179982 )
- Groupement Hospitalier Est Bron, Lyon
- France
17
Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon)
( 157792 )
- CHU de Dijon - 14 rue Paul Gaffarel - BP 77908 - 21079 DIJON Cedex
- France
18
Roche SAS, Neuilly-sur-Seine, France
( 419731 )
- Neuilly Sur Seine
- France
|
Langue du document |
Anglais
|
Nom de la revue |
|
Vulgarisation |
Non
|
Comité de lecture |
Oui
|
Audience |
Internationale
|
Date de publication |
2019-02
|
Date de publication électronique |
2018-12-21
|
Volume |
74
|
Numéro |
1
|
Page/Identifiant |
9-15
|
Domaine(s) |
|
Financement |
|
Mots-clés |
en
Ethical issues, Diagnosis, Personalized medicine, Prognosis, Therapeutics, Whole genome sequencing
|
DOI | 10.1016/j.therap.2018.11.012 |
Pubmed Id | 30638855 |
Origine :
Fichiers produits par l'(les) auteur(s)
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