Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans. ; (VLID)6184214
The fields of human genetics and genomics have generated considerable knowledge about the mechanistic basis of many diseases. Genomic approaches to diagnosis, prognostication, prevention and treatment - genomic-driven precision medicine (GDPM) - may help optimize medical practice. Here, we provide a comprehensive review of GDPM of complex diseases across major medical specialties. We focus on technological readiness: how rapidly a test can be implemented into health care. Although these areas of medicine are diverse, key similarities exist across almost all areas. Many medical areas have, within their standards of care, at least one GDPM test for a genetic variant of strong effect that aids the identification/diagnosis of a more homogeneous subset within a larger disease group or identifies a subset with different therapeutic requirements. However, for almost all complex diseases, the majority of patients do not carry established single-gene mutations with large effects. Thus, research is underway that seeks to determine the polygenic basis of many complex diseases. Nevertheless, most complex diseases are caused by the interplay of genetic, behavioural and environmental risk factors, which will likely necessitate models for prediction and diagnosis that incorporate genetic and non-genetic data. ; Funding Agencies|SciLifeLab; Swedish Research Council (Vetenskapsradet)Swedish Research Council [D0886501]; US National Institute of Mental HealthUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Institute of Mental Health (NIMH) [MH077139, MH1095320]; European UnionEuropean Commission [610307, 733161, 825843]; Swedish Cancer SocietySwedish Cancer Society; Swedish Research CouncilSwedish Research CouncilEuropean Commission [2018-02837, 2014-03352, 2009-1039, 2018-03307]; Knut and Alice Wallenberg FoundationKnut & Alice Wallenberg Foundation; Karolinska Institutet, Karolinska University HospitalKarolinska Institutet; Radiumhemmets Forskningsfonder; European Research CouncilEuropean Research Council (ERC)European Commission [CoG-2015_681742_NASCENT]; Swedish Heart-Lung FoundationSwedish Heart-Lung Foundation [20160872]; Swedish Foundation for Strategic Research (IRC Center); Novo Nordisk FoundationNovo Nordisk FoundationNovocure Limited; ALF; Strategic Research Area Epidemiology at Karolinska Institutet; Swedish Rheumatism Association; Vth 80-year Foundation; Swedish Society of Medicine; Clinical Research Support (Avtal om Lakarutbildning och Forskning); Swedish government; county councils; ALF-agreement; Swedish Foundation for Strategic ResearchSwedish Foundation for Strategic Research [15-0067]; IMI2 Joint Undertaking [115974]; European Federation of Pharmaceutical Industries and Associations with JDRF; H2020 Program ERA PerMed JTC 2018 Call (VR) [2018-05619]
In: Auffray , C , Balling , R , Barroso , I , Bencze , L , Benson , M , Bergeron , J , Bernal-Delgado , E , Blomberg , N , Bock , C , Conesa , A , Del Signore , S , Delogne , C , Devilee , P , Di Meglio , A , Eijkemans , M , Flicek , P , Graf , N , Grimm , V , Guchelaar , H J , Guo , Y K , Gut , I G , Hanbury , A , Hanif , S , Hilgers , R D , Honrado , Á , Hose , D R , Houwing-Duistermaat , J , Hubbard , T , Janacek , S H , Karanikas , H , Kievits , T , Kohler , M , Kremer , A , Lanfear , J , Lengauer , T , Maes , E , Meert , T , Müller , W , Nickel , D , Oledzki , P , Pedersen , B , Petkovic , M , Pliakos , K , Rattray , M , i Màs , J R , Schneider , R , Sengstag , T , Serra-Picamal , X , Spek , W , Vaas , L A I , van Batenburg , O , Vandelaer , M , Varnai , P , Villoslada , P , Vizcaíno , J A , Wubbe , J P M & Zanetti , G 2016 , ' Making sense of big data in health research : Towards an EU action plan ' , Genome medicine , vol. 8 , no. 1 , 71 . https://doi.org/10.1186/s13073-016-0323-y
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans.
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans.
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans.
In: Auffray , C , Balling , R , Barroso , I , Bencze , L , Benson , M , Bergeron , J , Bernal-Delgado , E , Blomberg , N , Bock , C , Conesa , A , Del Signore , S , Delogne , C , Devilee , P , Di Meglio , A , Eijkemans , M , Flicek , P , Graf , N , Grimm , V , Guchelaar , H-J , Guo , Y-K , Gut , I G , Hanbury , A , Hanif , S , Hilgers , R-D , Honrado , Á , Hose , D R , Houwing-Duistermaat , J , Hubbard , T , Janacek , S H , Karanikas , H , Kievits , T , Kohler , M , Kremer , A , Lanfear , J , Lengauer , T , Maes , E , Meert , T , Müller , W , Nickel , D , Oledzki , P , Pedersen , B , Petkovic , M , Pliakos , K , Rattray , M , I Màs , J R , Schneider , R , Sengstag , T , Serra-Picamal , X , Spek , W , Vaas , L A I , van Batenburg , O , Vandelaer , M , Varnai , P , Villoslada , P , Vizcaíno , J A , Wubbe , J P M & Zanetti , G 2016 , ' Making sense of big data in health research : Towards an EU action plan ' Genome Medicine , vol 8 , no. 1 , pp. 71 . DOI:10.1186/s13073-016-0323-y
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans.
In: Auffray , C , Balling , R , Barroso , I , Bencze , L , Benson , M , Bergeron , J , Bernal-Delgado , E , Blomberg , N , Bock , C , Conesa , A , Del Signore , S , Delogne , C , Devilee , P , Di Meglio , A , Eijkemans , M , Flicek , P , Graf , N , Grimm , V , Guchelaar , H J , Guo , Y K , Gut , I G , Hanbury , A , Hanif , S , Hilgers , R D , Honrado , Á , Hose , D R , Houwing-Duistermaat , J , Hubbard , T , Janacek , S H , Karanikas , H , Kievits , T , Kohler , M , Kremer , A , Lanfear , J , Lengauer , T , Maes , E , Meert , T , Müller , W , Nickel , D , Oledzki , P , Pedersen , B , Petkovic , M , Pliakos , K , Rattray , M , i Màs , J R , Schneider , R , Sengstag , T , Serra-Picamal , X , Spek , W , Vaas , L A I , van Batenburg , O , Vandelaer , M , Varnai , P , Villoslada , P , Vizcaíno , J A , Wubbe , J P M & Zanetti , G 2016 , ' Erratum to : Making sense of big data in health research: Towards an EU action plan [Genome Med., 8 (2016) (71)] ' , Genome medicine , vol. 8 , no. 1 , 118 . https://doi.org/10.1186/s13073-016-0376-y
The published article [1] has two points of confusion in the section entitled "Technical challenges related to the management of electronic health records". Firstly, the International Rare Diseases Research Consortium (IRDiRC) has developed policies and guidelines on approaches to data sharing meant to enable and improve the development of diagnoses and therapies for rare diseases. However, at present, IRDiRC has not developed best practices for the management of electronic health records (EHRs). Secondly, RARE-Bestpractices is a European Commission 7th Framework Programme (FP7) funded initiative, independent of IRDiRC. RARE-Bestpractices contributes to IRDiRC goals and objectives; however the initiative itself is not sponsored nor connected to IRDiRC.
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health arid healthcare for all Europearis. ; Funding Agencies|European Union [115568, 603160, 282510, 664691, 115749, 305033, 305397, 288028, 242189, 211601]; European Molecular Biology Laboratory; Wellcome Trust [WT098051]; [115372]; [257082]; [291814]; [291728]; [321567]; [262055]; [115446]; [602552]; [644753]; [634143]; [261357]; [305280]; [115525]; [2011 23 02]; [270089]; [278433]; [602525]; [201418]; [242135]; [260558]; [223411]; [305626]; [115621]; [611388]; [306000]; [354457]; [305564]; [115010]; [269978]
Medicine and healthcare are undergoing profound changes. Whole-genome sequencing and high-resolution imaging technologies are key drivers of this rapid and crucial transformation. Technological innovation combined with automation and miniaturization has triggered an explosion in data production that will soon reach exabyte proportions. How are we going to deal with this exponential increase in data production? The potential of "big data" for improving health is enormous but, at the same time, we face a wide range of challenges to overcome urgently. Europe is very proud of its cultural diversity; however, exploitation of the data made available through advances in genomic medicine, imaging, and a wide range of mobile health applications or connected devices is hampered by numerous historical, technical, legal, and political barriers. European health systems and databases are diverse and fragmented. There is a lack of harmonization of data formats, processing, analysis, and data transfer, which leads to incompatibilities and lost opportunities. Legal frameworks for data sharing are evolving. Clinicians, researchers, and citizens need improved methods, tools, and training to generate, analyze, and query data effectively. Addressing these barriers will contribute to creating the European Single Market for health, which will improve health and healthcare for all Europeans.