CINXE.COM

<!DOCTYPE html> <html lang="en" dir="ltr" xmlns="http://www.w3.org/1999/xhtml" xmlns:mml="http://www.w3.org/1998/Math/MathML"> <head prefix="og: http://ogp.me/ns# article: http://ogp.me/ns/article# book: http://ogp.me/ns/book#" >  <link rel="dns-prefetch" href="//d33xdlntwy0kbs.cloudfront.net" /> <link rel="dns-prefetch" href="//www.google.com" /> <link rel="dns-prefetch" href="//scholar.google.com" /> <link rel="dns-prefetch" href="//www.googletagmanager.com" /> <meta http-equiv="Content-Type" content="text/html; charset=utf-8" /> <link rel="shortcut icon" href="https://www.biorxiv.org/sites/default/files/images/favicon.ico" type="image/vnd.microsoft.icon" /> <meta name="viewport" content="width=device-width, initial-scale=1" /> <link rel="alternate" type="application/pdf" title="Full Text (PDF)" href="/content/10.1101/203554v1.full.pdf" /> <link rel="alternate" type="text/plain" title="Full Text (Plain)" href="/content/10.1101/203554v1.full.txt" /> <meta name="type" content="article" /> <meta name="category" content="article" /> <meta name="HW.identifier" content="/biorxiv/early/2017/10/15/203554.atom" /> <meta name="HW.pisa" content="biorxiv;203554v1" /> <meta name="DC.Format" content="text/html" /> <meta name="DC.Language" content="en" /> <meta name="DC.Title" content="Genomics in healthcare: GA4GH looks to 2022" /> <meta name="DC.Identifier" content="10.1101/203554" /> <meta name="DC.Date" content="2017-10-15" /> <meta name="DC.Publisher" content="Cold Spring Harbor Laboratory" /> <meta name="DC.Rights" content="© 2017, Posted by Cold Spring Harbor Laboratory. This pre-print is available under a Creative Commons License (Attribution 4.0 International), CC BY 4.0, as described at http://creativecommons.org/licenses/by/4.0/" /> <meta name="DC.AccessRights" content="restricted" /> <meta name="DC.Description" content="The Global Alliance for Genomics and Health (GA4GH), the standards-setting body in genomics for healthcare, aims to accelerate biomedical advancement globally. We describe the differences between healthcare- and research-driven genomics, discuss the implications of global, population-scale collections of human data for research, and outline mission-critical considerations in ethics, regulation, technology, data protection, and society. We present a crude model for estimating the rate of healthcare-funded genomes worldwide that accounts for the preparedness of each country for genomics, and infers a progression of cancer-related sequencing over time. We estimate that over 60 million patients will have their genome sequenced in a healthcare context by 2025. This represents a large technical challenge for healthcare systems, and a huge opportunity for research. We identify eight major practical, principled arguments to support the position that virtual cohorts of 100 million people or more would have tangible research benefits." /> <meta name="DC.Contributor" content="Ewan Birney" /> <meta name="DC.Contributor" content="Jessica Vamathevan" /> <meta name="DC.Contributor" content="Peter Goodhand" /> <meta name="article:published_time" content="2017-10-15" /> <meta name="article:section" content="New Results" /> <meta name="citation_title" content="Genomics in healthcare: GA4GH looks to 2022" /> <meta name="citation_abstract" lang="en" content="<h3>Abstract</h3> <p>The Global Alliance for Genomics and Health (GA4GH), the standards-setting body in genomics for healthcare, aims to accelerate biomedical advancement globally. We describe the differences between healthcare- and research-driven genomics, discuss the implications of global, population-scale collections of human data for research, and outline mission-critical considerations in ethics, regulation, technology, data protection, and society. We present a crude model for estimating the rate of healthcare-funded genomes worldwide that accounts for the preparedness of each country for genomics, and infers a progression of cancer-related sequencing over time. We estimate that over 60 million patients will have their genome sequenced in a healthcare context by 2025. This represents a large technical challenge for healthcare systems, and a huge opportunity for research. We identify eight major practical, principled arguments to support the position that virtual cohorts of 100 million people or more would have tangible research benefits.</p>" /> <meta name="citation_journal_title" content="bioRxiv" /> <meta name="citation_publisher" content="Cold Spring Harbor Laboratory" /> <meta name="citation_publication_date" content="2017/01/01" /> <meta name="citation_mjid" content="biorxiv;203554v1" /> <meta name="citation_id" content="203554v1" /> <meta name="citation_public_url" content="https://www.biorxiv.org/content/10.1101/203554v1" /> <meta name="citation_abstract_html_url" content="https://www.biorxiv.org/content/10.1101/203554v1.abstract" /> <meta name="citation_full_html_url" content="https://www.biorxiv.org/content/10.1101/203554v1.full" /> <meta name="citation_pdf_url" content="https://www.biorxiv.org/content/biorxiv/early/2017/10/15/203554.full.pdf" /> <meta name="citation_doi" content="10.1101/203554" /> <meta name="citation_num_pages" content="20" /> <meta name="citation_article_type" content="Article" /> <meta name="citation_section" content="New Results" /> <meta name="citation_firstpage" content="203554" /> <meta name="citation_author" content="Ewan Birney" /> <meta name="citation_author_institution" content="European Molecular Biology Laboratory–European Bioinformatics Institute" /> <meta name="citation_author_email" content="birney@ebi.ac.uk" /> <meta name="citation_author_orcid" content="http://orcid.org/0000-0001-8314-8497" /> <meta name="citation_author" content="Jessica Vamathevan" /> <meta name="citation_author_institution" content="European Molecular Biology Laboratory–European Bioinformatics Institute" /> <meta name="citation_author_orcid" content="http://orcid.org/0000-0003-2016-9754" /> <meta name="citation_author" content="Peter Goodhand" /> <meta name="citation_author_institution" content="Ontario Institute for Cancer Research" /> <meta name="citation_reference" content="Gilmour MW, Graham M, Reimer A, Van Domselaar G (2013) Public health genomics and the new molecular epidemiology of bacterial pathogens. Public Health Genomics 16: 25–30. doi:10.1159/000342709" /> <meta name="citation_reference" content="Lecuit M, Eloit M (2015) The potential of whole genome NGS for infectious disease diagnosis. Expert Review of Molecular Diagnostics 15: 1517–1519; doi:10.1586/14737159.2015.1111140" /> <meta name="citation_reference" content="Public Health England (2017) England world leaders in the use of whole genome sequencing to diagnose TB (press release). Published online 28 March: https://www.gov.uk/government/news/england-world-leaders-in-the-use-of-whole-genome-sequencing-to-diagnose-tb" /> <meta name="citation_reference" content="Gire SK, Goba A, Andersen KG, Sealfon RS, Park DJ, Kanneh L, Jalloh S, Momoh M, Fullah M, Dudas G, Wohl S, Moses LM, Yozwiak NL, Winnicki S, Matranga CB, Malboeuf CM, Qu J, Gladden AD, Schaffner SF, Yang X, Jiang PP, Nekoui M, Colubri A, Coomber MR, Fonnie M, Moigboi A, Gbakie M, Kamara FK, Tucker V, Konuwa E (2014) Genomic surveillance elucidates Ebola virus origin and transmission during the 2014 outbreak. Science 345: 1369–1372; doi:10.1126/science.1259657" /> <meta name="citation_reference" content="Harris SR, Cartwright EJP, Török ME, Holden MTG, Brown NM, Ogilvy-Stuart AL, Ellington MJ, Quail MA, Bentley SD, Parkhill J, Peacock SJ (2013) Whole-genome sequencing for analysis of an outbreak of meticillin-resistant Staphylococcus aureus: a descriptive study. Lancet Infect Dis. 13: 130–136; doi:10.1016/S1473-3099(12)70268-2" /> <meta name="citation_reference" content="Köser CU, Holden MT, Ellington MJ, Cartwright EJ, Brown NM, Ogilvy-Stuart AL, Hsu LY, Chewapreecha C, Croucher NJ, Harris SR, Sanders M, Enright MC, Dougan G, Bentley SD, Parkhill J, Fraser LJ, Betley JR, Schulz-Trieglaff OB, Smith GP, Peacock SJ (2012) Rapid whole-genome sequencing for investigation of a neonatal MRSA outbreak. N Engl J Med 366: 2267–2275; doi:10.1056/NEJMoa1109910" /> <meta name="citation_reference" content="Baldovino S, Moliner AM, Taruscio D, Daina E, Roccatello D (2016) Rare diseases in Europe: from a wide to a local perspective. Israel Med Assoc J 18: 359–363; PMID:27468531" /> <meta name="citation_reference" content="citation_journal_title=J Personalized Med;citation_author=KD. Christensen;citation_author=D. Dukhovny;citation_author=U. Siebert;citation_author=RC. Green;citation_title=Assessing the costs and cost-effectiveness of genomic sequencing;citation_pages=470-486;citation_volume=5;citation_year=2015;citation_pmid=26690481;citation_doi=10.3390/jpm5040470" /> <meta name="citation_reference" content="Stavropoulos DJ, Merico D, Jobling R, Bowdin S, Monfared N, Thiruvahindrapuram B, Nalpathamkalam T, Pellecchia G, Yuen RKC, Szego MJ, Hayeems RZ, Zlotnik Shaul R, Brudno M, Girdea M, Frey B, Alipanahi B, Ahmed S, Babul-Hirji R, Badilla Porras R, Carter MT, Chad L, Chaudhry A, Chitayat D, Jougheh Doust S, Cytrynbaum C, Dupuis L, Ejaz R, Fishman L, Guerin A, Hashemi B, Helal M, Hewson S, Inbar-Feigenberg M, Kannu P, Karp N, Kim R, Kronick J, Liston E, MacDonald H, Mercimek-Mahmutoglu S, Mendoza-Londono R, Nasr E, Nimmo G, Parkinson N, Quercia N, Raiman J, Roifman M, Schulze A, Shugar A, Shuman C, Sinajon P, Siriwardena K, Weksberg R, Yoon G, Carew C, Erickson R, Leach RA, Klein R. Ray PN, Meyn S, Scherer SW, Cohn RD, Marshall CR (2016) Whole genome sequencing expands diagnostic utility and improves clinical management in pediatric medicine. NPJ Genom Med 1: 15012; doi:10.1038/npjgenmed.2015.12" /> <meta name="citation_reference" content="Stark Z, Schofield D, Alam K, Wilson W, Mupfeki N, Macciocca I, Shrestha R, White SM, Gaff C (2017) Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement. Genet Med 19: 867–874; doi:10.1038/gim.2016.221" /> <meta name="citation_reference" content="Ripatti S, Tikkanen E, Orho-Melander M, Havulinna AS, Silander K, Sharma A, Guiducci C, Perola M, Jula A, Sinisalo J, Lokki M-L, Nieminen MS, Melander O, Salomaa V, Peltonen L, Kathiresan S (2010) A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. Lancet 376: 1393–1400; doi:10.1016/S0140-6736(10)61267-6" /> <meta name="citation_reference" content="Burton PR, Hansell AL, Fortier I, Manolio TA, Khoury MJ, Little J, Elliot P (2008) Size matters: just how big is BIG?: Quantifying realistic sample size requirements for human genome. Int J Epidemiol 38: 263–273; doi:10.1093/ije/dyn147" /> <meta name="citation_reference" content="Philippakis AA, Azzariti DR, Beltran S, Brookes AJ, Brownstein CA, Brudno M, Brunner HG, Buske OJ, Carey K, Doll C, Dumitriu S, Dyke SOM, den Dunnen JT, Firth HV, Gibbs RA, Girdea A, Gonzalez M, Haendel MA, Hamosh A, Holm IA, Huang L, Hurles ME, Hutton B, Krier JB, Misyura A, Mungall CJ, Paschall J, Paten B, Robinson PN, Schiettecatte F, Sobreira NL, Swaminathan GJ, Taschner PE, Terry SF, Washington NL, Züchner S, Boycott KM, Rehm HL (2015) The Matchmaker Exchange: a platform for rare disease gene discovery. Human Mutat 36: 915–921; doi:10.1002/humu.22858" /> <meta name="citation_reference" content="UN General Assembly (1948) Universal declaration of human rights (217 [III] A). Paris. Article 27." /> <meta name="citation_reference" content="Global Alliance for Genomics and Health (2016). GENOMICS. A federated ecosystem for sharing genomic, clinical data. Science 352:1278–1280; doi:10.1126/science.aaf6162" /> <meta name="twitter:title" content="Genomics in healthcare: GA4GH looks to 2022" /> <meta name="twitter:site" content="@biorxivpreprint" /> <meta name="twitter:card" content="summary" /> <meta name="twitter:image" content="https://www.biorxiv.org/sites/default/files/images/biorxiv_logo_homepage7-5-small.png" /> <meta name="twitter:description" content="The Global Alliance for Genomics and Health (GA4GH), the standards-setting body in genomics for healthcare, aims to accelerate biomedical advancement globally. We describe the differences between healthcare- and research-driven genomics, discuss the implications of global, population-scale collections of human data for research, and outline mission-critical considerations in ethics, regulation, technology, data protection, and society. We present a crude model for estimating the rate of healthcare-funded genomes worldwide that accounts for the preparedness of each country for genomics, and infers a progression of cancer-related sequencing over time. We estimate that over 60 million patients will have their genome sequenced in a healthcare context by 2025. This represents a large technical challenge for healthcare systems, and a huge opportunity for research. We identify eight major practical, principled arguments to support the position that virtual cohorts of 100 million people or more would have tangible research benefits." /> <meta name="og-title" property="og:title" content="Genomics in healthcare: GA4GH looks to 2022" /> <meta name="og-url" property="og:url" content="https://www.biorxiv.org/content/10.1101/203554v1" /> <meta name="og-site-name" property="og:site_name" content="bioRxiv" /> <meta name="og-description" property="og:description" content="The Global Alliance for Genomics and Health (GA4GH), the standards-setting body in genomics for healthcare, aims to accelerate biomedical advancement globally. We describe the differences between healthcare- and research-driven genomics, discuss the implications of global, population-scale collections of human data for research, and outline mission-critical considerations in ethics, regulation, technology, data protection, and society. We present a crude model for estimating the rate of healthcare-funded genomes worldwide that accounts for the preparedness of each country for genomics, and infers a progression of cancer-related sequencing over time. We estimate that over 60 million patients will have their genome sequenced in a healthcare context by 2025. This represents a large technical challenge for healthcare systems, and a huge opportunity for research. We identify eight major practical, principled arguments to support the position that virtual cohorts of 100 million people or more would have tangible research benefits." /> <meta name="og-type" property="og:type" content="article" /> <meta name="og-image" property="og:image" content="https://www.biorxiv.org/sites/default/files/images/biorxiv_logo_homepage7-5-small.png" /> <meta name="citation_date" content="2017-10-15" /> <link rel="alternate" type="application/vnd.ms-powerpoint" title="Powerpoint" href="/content/10.1101/203554v1.ppt" /> <meta name="description" content="bioRxiv - the preprint server for biology, operated by Cold Spring Harbor Laboratory, a research and educational institution" /> <meta name="generator" content="Drupal 7 (http://drupal.org)" /> <link rel="canonical" href="https://www.biorxiv.org/content/10.1101/203554v1" /> <link rel="shortlink" href="https://www.biorxiv.org/node/62015" /> <title>Genomics in healthcare: GA4GH looks to 2022 | bioRxiv</title> <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__7SC0i-kTgUlQGKuqbmyS18Sez8FDO-aG9FSHkGrLGl8__EBUojqg5W_1M2-aUl2Y1w9JxEEauoJ0pj29wOb-7Vz4__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" /> <link type="text/css" rel="stylesheet" href="//cdn.jsdelivr.net/qtip2/2.2.1/jquery.qtip.min.css" media="all" /> <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__FlELJz04KidagQ4LEL1ygrbUfbmuL4VV7UYV5Yy-sCM__EfkRiZW771uHZNWmVAV36yhdrpAF8a30Y2kgTsiwDUE__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" /> <style type="text/css" media="all"> /* <![CDATA[ */ .panels-flexible-new .panels-flexible-region{padding:0}.panels-flexible-new .panels-flexible-region-inside{padding-right:.5em;padding-left:.5em}.panels-flexible-new .panels-flexible-region-inside-first{padding-left:0}.panels-flexible-new .panels-flexible-region-inside-last{padding-right:0}.panels-flexible-new .panels-flexible-column{padding:0}.panels-flexible-new .panels-flexible-column-inside{padding-right:.5em;padding-left:.5em}.panels-flexible-new .panels-flexible-column-inside-first{padding-left:0}.panels-flexible-new .panels-flexible-column-inside-last{padding-right:0}.panels-flexible-new .panels-flexible-row{padding:0 0 .5em;margin:0}.panels-flexible-new .panels-flexible-row-last{padding-bottom:0}.panels-flexible-column-new-main{float:left;width:99.0000%}.panels-flexible-new-inside{padding-right:0}.panels-flexible-new{width:auto}.panels-flexible-region-new-center{float:left;width:99.0000%}.panels-flexible-row-new-main-row-inside{padding-right:0} /* ]]> */ </style> <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__PWuQ_RYRTJ4BLEKsbWQeHysPg0gOQ3571ruQa_rXvAo__pWyBeQHtoijrNnOoDz9ZPdiNPirDrSCPOz0Q1CDCeno__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" /> <style type="text/css" media="all"> /* <![CDATA[ */ #sliding-popup.sliding-popup-bottom,#sliding-popup.sliding-popup-bottom .eu-cookie-withdraw-banner,.eu-cookie-withdraw-tab{background:gray}#sliding-popup.sliding-popup-bottom.eu-cookie-withdraw-wrapper{background:transparent}#sliding-popup .popup-content #popup-text h1,#sliding-popup .popup-content #popup-text h2,#sliding-popup .popup-content #popup-text h3,#sliding-popup .popup-content #popup-text p,.eu-cookie-compliance-secondary-button,.eu-cookie-withdraw-tab{color:#fff !important}.eu-cookie-withdraw-tab{border-color:#fff}.eu-cookie-compliance-more-button{color:#fff !important} /* ]]> */ </style>  <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__Wnlyen9qEpwh_Qaf9okEu4QdVGM0BDothxeqA6Nbvo8__EJmw6SZD9bYoS8jocCpPYS3JFRURpdzmuvJoAUNiI-g__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" /> <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__XcPUpBBUJQ24NvZiwEghekLB9ZQrbggkGjbd6MYwslk__igagZiGB2PktJMjUpZ2u3tnc56saoUGIrD5N0KSRmI4__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" />   <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__2WBMox6sOrN42ss5lCnH7WWVRdFdJCxtTKnQJYRwTE4__yqNvNYLvMpjy3ffuJrjjm9uW2i-Me1c23KLYuWHaqio__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" />  <link type="text/css" rel="stylesheet" href="https://www.biorxiv.org/sites/default/files/advagg_css/css__5MpY5I_n7JCj0vTt_0U3QAX3LzfRRWSYjtePZLlOFiA__5c1ZiN_pM9tjxvpyA9VpEacScF0S_W4R222pC-s_-Pk__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.css" media="all" /> <link type="text/css" rel="stylesheet" href="https://d33xdlntwy0kbs.cloudfront.net/cshl_custom.css" media="all" /> <script type="text/javascript" src="https://www.biorxiv.org/sites/default/files/advagg_js/js__BKYqkKToQ7EjirB7eIdMEH5521EU3da9IpoOs8Ex2XI__aSjVoX8giBmLhN2EbCgIGQJNu89Mh5aVu1LvI_gkJ7Y__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.js"></script> <script type="text/javascript" src="//cdn.jsdelivr.net/qtip2/2.2.1/jquery.qtip.min.js"></script> <script type="text/javascript" src="https://www.biorxiv.org/sites/default/files/advagg_js/js__4Cn2dxvNlsJ-sHe6QOTLREaQvcqb0Yh0Zm9tTOHtQow__JeZEUjzbaj_yX6UjCI8eBbXy_J64ZVuoWmc2fSpLZHo__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.js"></script> <script type="text/javascript" src="https://www.google.com/recaptcha/api.js?hl=en&render=explicit&onload=drupalRecaptchaOnload"></script> <script type="text/javascript" src="https://www.biorxiv.org/sites/default/files/advagg_js/js__dGWpV57YWu3sX6UOe04RMH-iP9jSkEP7Ajt0caYXZZk__1l8Wa0iuIek7SEVmMuU0Y9TlAvRR-XZVfl1u9ezOPes__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.js"></script> <script type="text/javascript" async="async" src="https://scholar.google.com/scholar_js/casa.js"></script> <script type="text/javascript" async="async" src="https://www.googletagmanager.com/gtag/js?id=G-RZD586MC3Q"></script> <script type="text/javascript"> <![CDATA[//><!]]> </script> <script type="text/javascript"> <![CDATA[//><!]]> </script> <script type="text/javascript"> <![CDATA[//><!]]> </script> <script type="text/javascript"> <![CDATA[//><!]]> </script> <script type="text/javascript"> <![CDATA[//><!]]> </script> <script type="text/javascript"> <![CDATA[//><!]]> </script>  </head> <body class="html not-front not-logged-in page-node page-node- page-node-62015 node-type-highwire-article context-content hw-default-jcode-biorxiv hw-article-type-article hw-article-category-new-results">  <noscript><iframe src="//www.googletagmanager.com/ns.html?id=GTM-M677548" height="0" width="0" style="display:none;visibility:hidden"></iframe></noscript> <script type="text/javascript">(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0];var j=d.createElement(s);var dl=l!='dataLayer'?'&l='+l:'';j.src='//www.googletagmanager.com/gtm.js?id='+i+dl;j.type='text/javascript';j.async=true;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-M677548');</script>  <div id="skip-link"> <a href="#main-content" class="element-invisible element-focusable">Skip to main content</a> </div> <div class="page clearfix page-box-shadows footer-borders panels-page panels-layout-jcore_2col" id="page"> <header id="section-header" class="section section-header"> <div id="zone-branding" class="zone zone-branding clearfix print-display-block container-30"> <div class="grid-15 prefix-1 region region-branding print-display-block" id="region-branding"> <div class="region-inner region-branding-inner"> <div class="branding-data clearfix"> <div class="logo-img"> <a href="/" rel="home" class="" data-icon-position="" data-hide-link-title="0"><img alt="bioRxiv" src="https://www.biorxiv.org/sites/default/files/biorxiv_article.jpg" /></a> </div> </div> </div> </div><div class="grid-11 suffix-1 region region-branding-second print-hidden" id="region-branding-second"> <div class="region-inner region-branding-second-inner"> <div class="block block-system block-menu block-main-menu block-system-main-menu odd block-without-title" id="block-system-main-menu"> <div class="block-inner clearfix"> <div class="content clearfix"> <nav class="menubar-nav"><ul class="menu" role="menu"><li class="first leaf" role="menuitem"><a href="/" title="" class="" data-icon-position="" data-hide-link-title="0">Home</a></li> <li class="leaf" role="menuitem"><a href="/about-biorxiv" class="" data-icon-position="" data-hide-link-title="0">About</a></li> <li class="leaf" role="menuitem"><a href="/submit-a-manuscript" class="" data-icon-position="" data-hide-link-title="0">Submit</a></li> <li class="last leaf" role="menuitem"><a href="/alertsrss" title="" class="" data-icon-position="" data-hide-link-title="0">ALERTS / RSS</a></li> </ul></nav> </div> </div> </div><div class="block block-panels-mini block-biorxiv-search-box block-panels-mini-biorxiv-search-box even block-without-title" id="block-panels-mini-biorxiv-search-box"> <div class="block-inner clearfix"> <div class="content clearfix"> <div class="panel-display panel-1col clearfix" id="mini-panel-biorxiv_search_box"> <div class="panel-panel panel-col"> <div><div class="panel-pane pane-highwire-seach-quicksearch" > <div class="pane-content"> <form class="highwire-quicksearch button-style-mini button-style-mini" action="/content/10.1101/203554v1" method="post" id="highwire-search-quicksearch-form-0" accept-charset="UTF-8"><div><div class="form-item form-item-label-invisible form-type-textfield form-item-keywords"> <label class="element-invisible" for="search_rightsidebar_keywords_769210021">Search for this keyword </label> <input placeholder="Search" type="text" id="search_rightsidebar_keywords_769210021" name="keywords" value="" size="60" maxlength="128" class="form-text" /> </div> <div class="button-wrapper button-mini"><span class="icon-search"></span><input data-icon-only="1" data-font-icon="icon-search" data-icon-position="after" type="submit" id="search_rightsidebar_submit_1278321753" name="op" value="Search" class="form-submit" /></div><input type="hidden" name="form_build_id" value="form-zSu-PxokCrQwgqfW65hl6DbFneG0LWBR5ajTG9hKpm4" /> <input type="hidden" name="form_id" value="highwire_search_quicksearch_form_0" /> </div></form> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-custom pane-2 advanced-search-link" > <div class="pane-content"> <a href="/search">Advanced Search</a> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div id="zone-header" class="zone zone-header clearfix container-30"> </div> </header> <section id="section-content" class="section section-content"> <div id="zone-content" class="zone zone-content clearfix container-30"> <div class="grid-28 suffix-1 prefix-1 region region-content" id="region-content"> <div class="region-inner region-content-inner"> <a id="main-content"></a> <div class="block block-system block-main block-system-main odd block-without-title" id="block-system-main"> <div class="block-inner clearfix"> <div class="content clearfix"> <div class="panel-display panels-960-layout jcore-2col-layout" > <div class="panel-row-wrapper clearfix"> <div class="main-content-wrapper grid-17 suffix-1 alpha"> <div class="panel-panel panel-region-content"> <div class="inside"><div class="panel-pane pane-highwire-article-citation" > <div class="pane-content"> <div class="highwire-article-citation highwire-citation-type-highwire-article node62015" data-node-nid="62015" id="node-62015--2857233676" data-pisa="biorxiv;203554v1" data-pisa-master="biorxiv;203554" data-apath="/biorxiv/early/2017/10/15/203554.atom" data-hw-author-tooltip-instance="highwire_author_tooltip"><div class="highwire-cite highwire-cite-highwire-article highwire-citation-biorxiv-article-top clearfix has-author-tooltip" > <span class="biorxiv-article-type"> New Results </span> <h1 class="highwire-cite-title" id="page-title">Genomics in healthcare: GA4GH looks to 2022</h1> <div class="highwire-cite-authors" ><span class="highwire-citation-authors"><span class="highwire-citation-author first hw-author-orcid-logo-wrapper" data-delta="0"><a href="http://orcid.org/0000-0001-8314-8497" target="_blank" class="hw-author-orcid-logo link-icon-only link-icon"><span class="hw-icon-orcid hw-icon-color-orcid"></span> <span class="title element-invisible">View ORCID Profile</span></a><span class="nlm-given-names">Ewan</span> <span class="nlm-surname">Birney</span></span>, <span class="highwire-citation-author hw-author-orcid-logo-wrapper" data-delta="1"><a href="http://orcid.org/0000-0003-2016-9754" target="_blank" class="hw-author-orcid-logo link-icon-only link-icon"><span class="hw-icon-orcid hw-icon-color-orcid"></span> <span class="title element-invisible">View ORCID Profile</span></a><span class="nlm-given-names">Jessica</span> <span class="nlm-surname">Vamathevan</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">Peter</span> <span class="nlm-surname">Goodhand</span></span></span></div> <div class="highwire-cite-metadata" ><span class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="label">doi:</span> https://doi.org/10.1101/203554 </span></div> </div> <div id="hw-article-author-popups-node-62015--2857233676" style="display: none;"><div class="author-tooltip-0"><div class="author-tooltip-name">Ewan Birney </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>1</span><span class='nlm-institution'>European Molecular Biology Laboratory–European Bioinformatics Institute</span>, Hinxton, Cambridge, <span class='nlm-country'>United Kingdom</span></div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Ewan%2BBirney%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Birney%20E&link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AEwan%2BBirney%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link"><a href="http://orcid.org/0000-0001-8314-8497" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for Ewan Birney</a></li><li class="author-corresp-email-link last"><span>For correspondence: <a href="mailto:birney@ebi.ac.uk" class="" data-icon-position="" data-hide-link-title="0">birney@ebi.ac.uk</a></span></li></ul></div><div class="author-tooltip-1"><div class="author-tooltip-name">Jessica Vamathevan </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>1</span><span class='nlm-institution'>European Molecular Biology Laboratory–European Bioinformatics Institute</span>, Hinxton, Cambridge, <span class='nlm-country'>United Kingdom</span></div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Jessica%2BVamathevan%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Vamathevan%20J&link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link"><a href="/search/author1%3AJessica%2BVamathevan%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li><li class="author-orcid-link last"><a href="http://orcid.org/0000-0003-2016-9754" target="_blank" class="" data-icon-position="" data-hide-link-title="0">ORCID record for Jessica Vamathevan</a></li></ul></div><div class="author-tooltip-2"><div class="author-tooltip-name">Peter Goodhand </div><div class="author-tooltip-affiliation"><span class="author-tooltip-text"><div class='author-affiliation'><span class='nlm-sup'>2</span><span class='nlm-institution'>Ontario Institute for Cancer Research</span>, Toronto, Ontario, <span class='nlm-country'>Canada</span></div></span></div><ul class="author-tooltip-find-more"><li class="author-tooltip-gs-link first"><a href="/lookup/google-scholar?link_type=googlescholar&gs_type=author&author%5B0%5D=Peter%2BGoodhand%2B" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on Google Scholar</a></li><li class="author-tooltip-pubmed-link"><a href="/lookup/external-ref?access_num=Goodhand%20P&link_type=AUTHORSEARCH" target="_blank" class="" data-icon-position="" data-hide-link-title="0">Find this author on PubMed</a></li><li class="author-site-search-link last"><a href="/search/author1%3APeter%2BGoodhand%2B" rel="nofollow" class="" data-icon-position="" data-hide-link-title="0">Search for this author on this site</a></li></ul></div></div></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-highwire-panel-tabs pane-panels-ajax-tab-tabs" > <div class="pane-content"> <div class="item-list"><ul class="tabs inline panels-ajax-tab"><li class="first"><a href="/content/10.1101/203554v1" class="panels-ajax-tab-tab" data-panel-name="biorxiv_tab_art" data-target-id="highwire_article_tabs" data-entity-context="node:62015" data-trigger="" data-url-enabled="1">Abstract</a><a href="/panels_ajax_tab/biorxiv_tab_art/node:62015/1" rel="nofollow" style="display:none" class="js-crawler-link"></a></li><li><a href="/content/10.1101/203554v1.full-text" class="panels-ajax-tab-tab" data-panel-name="article_tab_full_text" data-target-id="highwire_article_tabs" data-entity-context="node:62015" data-trigger="full-text" data-url-enabled="1">Full Text</a><a href="/panels_ajax_tab/article_tab_full_text/node:62015/1" rel="nofollow" style="display:none" class="js-crawler-link"></a></li><li><a href="/content/10.1101/203554v1.article-info" class="panels-ajax-tab-tab" data-panel-name="biorxiv_tab_info" data-target-id="highwire_article_tabs" data-entity-context="node:62015" data-trigger="article-info" data-url-enabled="1">Info/History</a><a href="/panels_ajax_tab/biorxiv_tab_info/node:62015/1" rel="nofollow" style="display:none" class="js-crawler-link"></a></li><li><a href="/content/10.1101/203554v1.article-metrics" class="panels-ajax-tab-tab" data-panel-name="article_tab_metrics" data-target-id="highwire_article_tabs" data-entity-context="node:62015" data-trigger="article-metrics" data-url-enabled="1">Metrics</a><a href="/panels_ajax_tab/article_tab_metrics/node:62015/1" rel="nofollow" style="display:none" class="js-crawler-link"></a></li><li><a href="/content/10.1101/203554v1.supplementary-material" class="panels-ajax-tab-tab" data-panel-name="biorxiv_tab_data" data-target-id="highwire_article_tabs" data-entity-context="node:62015" data-trigger="supplementary-material" data-url-enabled="1">Supplementary material</a><a href="/panels_ajax_tab/biorxiv_tab_data/node:62015/1" rel="nofollow" style="display:none" class="js-crawler-link"></a></li><li class="last"><a href="/content/10.1101/203554v1.full.pdf+html" class="panels-ajax-tab-tab" data-panel-name="biorxiv_tab_pdf" data-target-id="highwire_article_tabs" data-entity-context="node:62015" data-trigger="full.pdf+html" data-url-enabled="1"><i class="icon-file-alt"></i> Preview PDF</a><a href="/panels_ajax_tab/biorxiv_tab_pdf/node:62015/1" rel="nofollow" style="display:none" class="js-crawler-link"></a></li></ul></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-highwire-panel-tabs-container" > <div class="pane-content"> <div data-panels-ajax-tab-preloaded="biorxiv_tab_art" id="panels-ajax-tab-container-highwire_article_tabs" class="panels-ajax-tab-container"><div class="panels-ajax-tab-loading" style ="display:none"><img class="loading" src="https://www.biorxiv.org/sites/all/modules/contrib/panels_ajax_tab/images/loading.gif" alt="Loading" title="Loading" /></div><div class="panels-ajax-tab-wrap-biorxiv_tab_art"><div class="panel-display panel-1col clearfix" > <div class="panel-panel panel-col"> <div><div class="panel-pane pane-highwire-markup" > <div class="pane-content"> <div class="highwire-markup"><div xmlns="http://www.w3.org/1999/xhtml" data-highwire-cite-ref-tooltip-instance="highwire_reflinks_tooltip" class="content-block-markup" xmlns:xhtml="http://www.w3.org/1999/xhtml"><div class="article abstract-view "><span class="highwire-journal-article-marker-start"></span><div class="section abstract" id="abstract-1"><h2 class="">Abstract</h2><p id="p-2">The Global Alliance for Genomics and Health (GA4GH), the standards-setting body in genomics for healthcare, aims to accelerate biomedical advancement globally. We describe the differences between healthcare- and research-driven genomics, discuss the implications of global, population-scale collections of human data for research, and outline mission-critical considerations in ethics, regulation, technology, data protection, and society. We present a crude model for estimating the rate of healthcare-funded genomes worldwide that accounts for the preparedness of each country for genomics, and infers a progression of cancer-related sequencing over time. We estimate that over 60 million patients will have their genome sequenced in a healthcare context by 2025. This represents a large technical challenge for healthcare systems, and a huge opportunity for research. We identify eight major practical, principled arguments to support the position that virtual cohorts of 100 million people or more would have tangible research benefits.</p></div><span class="highwire-journal-article-marker-end"></span></div><span class="related-urls"></span></div></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-biorxiv-copyright" > <div class="pane-content"> <div class="field field-name-field-highwire-copyright field-type-text field-label-inline clearfix"><div class="field-label">Copyright </div><div class="field-items"><div class="field-item even">The copyright holder for this preprint is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity.<span class="license-type"> It is made available under a <a href="http://creativecommons.org/licenses/by/4.0/" class="" data-icon-position="" data-hide-link-title="0">CC-BY 4.0 International license</a>.</span></div></div></div> </div> </div> </div> </div> </div> </div></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-disqus-comment" > <div class="pane-content"> <div id="disqus_thread"><noscript><p><a href="http://biorxivstage.disqus.com/?url=https%3A%2F%2Fwww.biorxiv.org%2Fcontent%2F10.1101%2F203554v1" class="" data-icon-position="" data-hide-link-title="0">View the discussion thread.</a></p></noscript></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-highwire-back-to-top" > <div class="pane-content"> <a href="#page" class="back-to-top" data-icon-position="" data-hide-link-title="0"><span class="icon-chevron-up"></span> Back to top</a> </div> </div> </div> </div> </div> <div class="sidebar-right-wrapper grid-10 omega"> <div class="panel-panel panel-region-sidebar-right"> <div class="inside"><div class="panel-pane pane-highwire-node-pager" > <div class="pane-content"> <div class="pager highwire-pager pager-mini clearfix highwire-node-pager highwire-article-pager"><span class="pager-prev"><a href="/content/10.1101/203661v1" title="New Insights into the Conformational Activation of Full-Length Integrin" rel="prev" class="pager-link-prev link-icon"><span class="icon-circle-arrow-left"></span> <span class="title">Previous</span></a></span><span class="pager-next"><a href="/content/10.1101/203612v1" title="microRNA-triggered transposon small RNAs mediate genome dosage response" rel="next" class="pager-link-next link-icon-right link-icon"><span class="title">Next</span> <span class="icon-circle-arrow-right"></span></a></span></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-custom pane-1" > <div class="pane-content"> Posted October 15, 2017. </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-panels-mini pane-biorxiv-art-tools" > <div class="pane-content"> <div id="mini-panel-biorxiv_art_tools" class="highwire-2col-stacked panel-display"> <div class="panel-row-wrapper clearfix"> <div class="content-left-wrapper content-column"> <div class="panel-panel panel-region-content-left"> <div class="inside"><div class="panel-pane pane-highwire-variant-link" > <div class="pane-content"> <a href="/content/10.1101/203554v1.full.pdf" target="_self" class="article-dl-pdf-link link-icon"><span class="icon-external-link-sign"></span> <span class="title">Download PDF</span></a> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-biorxiv-supplementary-fragment" > <div class="pane-content"> <p><a href="/content/10.1101/203554v1.supplementary-material"><i class="icon-file"></i>Supplementary Material </a></p> </div> </div> </div> </div> </div> <div class="content-right-wrapper content-column"> <div class="panel-panel panel-region-content-right"> <div class="inside"><div class="panel-pane pane-minipanel-dialog-link pane-biorxiv-art-email" > <div class="pane-content"> <div class='minipanel-dialog-wrapper'><div class='minipanel-dialog-link-link'><a href="/" oncontextmenu="javascript: return false;" class="minipanel-dialog-link-trigger" title="Email this Article" data-icon-position="" data-hide-link-title="0"><i class = 'icon-envelope'></i> Email</a></div><div class='minipanel-dialog-link-mini' style='display:none'><div class="panel-display panel-1col clearfix" id="mini-panel-biorxiv_art_email"> <div class="panel-panel panel-col"> <div><div class="panel-pane pane-block pane-forward-form pane-forward" > <div class="pane-content"> <form action="/content/10.1101/203554v1" method="post" id="forward-form" accept-charset="UTF-8"><div><div id="edit-instructions" class="form-item form-item-label-before form-type-item"> <p>Thank you for your interest in spreading the word about bioRxiv.</p><p>NOTE: Your email address is requested solely to identify you as the sender of this article.</p> </div> <div class="form-item form-item-label-before form-type-textfield form-item-email"> <label for="edit-email">Your Email <span class="form-required" title="This field is required.">*</span></label> <input type="text" id="edit-email" name="email" value="" size="58" maxlength="256" class="form-text required" /> </div> <div class="form-item form-item-label-before form-type-textfield form-item-name"> <label for="edit-name">Your Name <span class="form-required" title="This field is required.">*</span></label> <input type="text" id="edit-name" name="name" value="" size="58" maxlength="256" class="form-text required" /> </div> <div class="form-item form-item-label-before form-type-textarea form-item-recipients"> <label for="edit-recipients">Send To <span class="form-required" title="This field is required.">*</span></label> <div class="form-textarea-wrapper resizable"><textarea id="edit-recipients" name="recipients" cols="50" rows="5" class="form-textarea required"></textarea></div> <div class="description">Enter multiple addresses on separate lines or separate them with commas.</div> </div> <div id="edit-page" class="form-item form-item-label-before form-type-item"> <label for="edit-page">You are going to email the following </label> <a href="/content/10.1101/203554v1" class="active" data-icon-position="" data-hide-link-title="0">Genomics in healthcare: GA4GH looks to 2022</a> </div> <div id="edit-subject" class="form-item form-item-label-before form-type-item"> <label for="edit-subject">Message Subject </label> (Your Name) has forwarded a page to you from bioRxiv </div> <div id="edit-body" class="form-item form-item-label-before form-type-item"> <label for="edit-body">Message Body </label> (Your Name) thought you would like to see this page from the bioRxiv website. </div> <div class="form-item form-item-label-before form-type-textarea form-item-message"> <label for="edit-message--2">Your Personal Message </label> <div class="form-textarea-wrapper resizable"><textarea id="edit-message--2" name="message" cols="50" rows="10" class="form-textarea"></textarea></div> </div> <input type="hidden" name="path" value="node/62015" /> <input type="hidden" name="path_cid" value="" /> <input type="hidden" name="forward_footer" value=" " /> <input type="hidden" name="form_build_id" value="form-Db_CSFy7i70-oxr3XQJnFz9YEtFoOo7QDk3KXrtff5M" /> <input type="hidden" name="form_id" value="forward_form" /> <fieldset class="captcha form-wrapper"><legend><span class="fieldset-legend">CAPTCHA</span></legend><div class="fieldset-wrapper"><div class="fieldset-description">This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.</div><input type="hidden" name="captcha_sid" value="840950117" /> <input type="hidden" name="captcha_token" value="11ff7425ec81c618b4700b86d3b616d2" /> <input type="hidden" name="captcha_response" value="Google no captcha" /> <div class="g-recaptcha" data-sitekey="6LfnJVIUAAAAAE-bUOMg0MJGki4lqSvDmhJp19fN" data-theme="light" data-type="image"></div></div></fieldset> <div class="form-actions form-wrapper" id="edit-actions"><input type="submit" id="edit-submit" name="op" value="Send Message" class="form-submit" /></div></div></form> </div> </div> </div> </div> </div> </div></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-highwire-share-link highwire_clipboard_link_ajax" id="shareit"> <div class="pane-content"> <a href="/" class="link-icon"><span class="icon-share-alt"></span> <span class="title">Share</span></a> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-panels-mini pane-biorxiv-share highwire_clipboard_form_ajax_shareit" > <div class="pane-content"> <div class="panel-display omega-12-onecol" id="mini-panel-biorxiv_share"> <div class="panel-panel grid-12 panel-region-preface"> <div class="inside"><div class="panel-pane pane-highwire-article-citation" > <div class="pane-content"> <div class="highwire-article-citation highwire-citation-type-highwire-article node62015--3" data-node-nid="62015" id="node-62015--41499831476" data-pisa="biorxiv;203554v1" data-pisa-master="biorxiv;203554" data-seqnum="62015" data-apath="/biorxiv/early/2017/10/15/203554.atom"><div class="highwire-cite highwire-cite-highwire-article highwire-citation-biorxiv-article-pap-list clearfix" > <div class="highwire-cite-title" > <div class="highwire-cite-title">Genomics in healthcare: GA4GH looks to 2022</div> </div> <div class="highwire-cite-authors" ><span class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">Ewan</span> <span class="nlm-surname">Birney</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">Jessica</span> <span class="nlm-surname">Vamathevan</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">Peter</span> <span class="nlm-surname">Goodhand</span></span></span></div> <div class="highwire-cite-metadata" ><span class="highwire-cite-metadata-journal highwire-cite-metadata">bioRxiv </span><span class="highwire-cite-metadata-pages highwire-cite-metadata">203554; </span><span class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="doi_label">doi:</span> https://doi.org/10.1101/203554 </span></div> </div> </div> </div> </div> </div> </div> <div class="panel-panel grid-12 panel-region-content"> <div class="inside"><div class="panel-pane pane-highwire-article-clipboard-copy" > <div class="pane-content"> <div class = "clipboard-copy"> <span class="label-url"> <label for="dynamic">Share This Article:</label> </span> <span class="input-text-url"> <input type="text" id="dynamic" value="https://www.biorxiv.org/content/10.1101/203554v1" size="50"/> </span> <span class="copy-button button"> <button id="copy-dynamic" class="clipboardjs-button" data-clipboard-target="#dynamic" data-clipboard-alert-style="tooltip" data-clipboard-alert-text="Copied!">Copy</button> </span> </div> </div> </div> </div> </div> <div class="panel-panel grid-12 panel-region-postscript"> <div class="inside"><div class="panel-pane pane-service-links text-center" > <div class="pane-content"> <div class="service-links"><a href="http://twitter.com/share?url=https%3A//www.biorxiv.org/content/10.1101/203554v1&text=Genomics%20in%20healthcare%3A%20GA4GH%20looks%20to%202022" id="twitter" title="Share this on Twitter" class="service-links-twitter" rel="nofollow" data-icon-position="" data-hide-link-title="0"><img src="https://www.biorxiv.org/sites/all/modules/highwire/highwire/images/twitter.png" alt="Twitter logo" /></a> <a href="http://www.facebook.com/sharer.php?u=https%3A//www.biorxiv.org/content/10.1101/203554v1&t=Genomics%20in%20healthcare%3A%20GA4GH%20looks%20to%202022" id="facebook" title="Share on Facebook" class="service-links-facebook" rel="nofollow" data-icon-position="" data-hide-link-title="0"><img src="https://www.biorxiv.org/sites/all/modules/highwire/highwire/images/fb-blue.png" alt="Facebook logo" /></a> <a href="http://www.linkedin.com/shareArticle?mini=true&url=https%3A//www.biorxiv.org/content/10.1101/203554v1&title=Genomics%20in%20healthcare%3A%20GA4GH%20looks%20to%202022&summary=&source=bioRxiv" id="linkedin" title="Publish this post to LinkedIn" class="service-links-linkedin" rel="nofollow" data-icon-position="" data-hide-link-title="0"><img src="https://www.biorxiv.org/sites/all/modules/highwire/highwire/images/linkedin-32px.png" alt="LinkedIn logo" /></a> <a href="http://www.mendeley.com/import/?url=https%3A//www.biorxiv.org/content/10.1101/203554v1&title=Genomics%20in%20healthcare%3A%20GA4GH%20looks%20to%202022" id="mendeley" title="Share on Mendeley" class="service-links-mendeley" rel="nofollow" data-icon-position="" data-hide-link-title="0"><img src="https://www.biorxiv.org/sites/all/modules/highwire/highwire/images/mendeley.png" alt="Mendeley logo" /></a></div> </div> </div> </div> </div> </div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-minipanel-dialog-link pane-biorxiv-cite-tool" > <div class="pane-content"> <div class='minipanel-dialog-wrapper'><div class='minipanel-dialog-link-link'><a href="/" oncontextmenu="javascript: return false;" class="minipanel-dialog-link-trigger link-icon" title="Citation Tools"><span class="icon-globe"></span> <span class="title">Citation Tools</span></a></div><div class='minipanel-dialog-link-mini' style='display:none'><div class="panel-display panel-1col clearfix" id="mini-panel-biorxiv_cite_tool"> <div class="panel-panel panel-col"> <div><div class="panel-pane pane-highwire-citation-export" > <div class="pane-content"> <div class="highwire-citation-export"> <div class="highwire-citation-info"> <div class="highwire-article-citation highwire-citation-type-highwire-article cite-tool-node62015--5" data-node-nid="62015" id="citation-node-62015--6939683347" data-pisa="biorxiv;203554v1" data-pisa-master="biorxiv;203554" data-seqnum="62015" data-apath="/biorxiv/early/2017/10/15/203554.atom"><div class="highwire-cite highwire-cite-highwire-article highwire-citation-biorxiv-article-pap-list clearfix" > <div class="highwire-cite-title" > <div class="highwire-cite-title">Genomics in healthcare: GA4GH looks to 2022</div> </div> <div class="highwire-cite-authors" ><span class="highwire-citation-authors"><span class="highwire-citation-author first" data-delta="0"><span class="nlm-given-names">Ewan</span> <span class="nlm-surname">Birney</span></span>, <span class="highwire-citation-author" data-delta="1"><span class="nlm-given-names">Jessica</span> <span class="nlm-surname">Vamathevan</span></span>, <span class="highwire-citation-author" data-delta="2"><span class="nlm-given-names">Peter</span> <span class="nlm-surname">Goodhand</span></span></span></div> <div class="highwire-cite-metadata" ><span class="highwire-cite-metadata-journal highwire-cite-metadata">bioRxiv </span><span class="highwire-cite-metadata-pages highwire-cite-metadata">203554; </span><span class="highwire-cite-metadata-doi highwire-cite-metadata"><span class="doi_label">doi:</span> https://doi.org/10.1101/203554 </span></div> </div> </div> </div> <div class="highwire-citation-formats"> <h2>Citation Manager Formats</h2> <div class="highwire-citation-formats-links"> <span class="Z3988" title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.spage&rft.epage&rft.atitle=Genomics%20in%20healthcare%3A%20GA4GH%20looks%20to%202022&rft.volume&rft.issue&rft.date=2017-01-01%2000%3A00%3A00&rft.stitle&rft.jtitle=bioRxiv&rft.au=Birney%2C+Ewan&rft.au=Vamathevan%2C+Jessica&rft.au=Goodhand%2C+Peter"></span><ul class="hw-citation-links inline button button-alt button-grid clearfix"><li class="bibtext first"><a href="/highwire/citation/62015/bibtext" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">BibTeX</a></li><li class="bookends"><a href="/highwire/citation/62015/bookends" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">Bookends</a></li><li class="easybib"><a href="/highwire/citation/62015/easybib" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">EasyBib</a></li><li class="endnote-tagged"><a href="/highwire/citation/62015/endnote-tagged" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">EndNote (tagged)</a></li><li class="endnote-8-xml"><a href="/highwire/citation/62015/endnote-8-xml" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">EndNote 8 (xml)</a></li><li class="medlars"><a href="/highwire/citation/62015/medlars" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">Medlars</a></li><li class="mendeley"><a href="/highwire/citation/62015/mendeley" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">Mendeley</a></li><li class="papers"><a href="/highwire/citation/62015/papers" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">Papers</a></li><li class="refworks-tagged"><a href="/highwire/citation/62015/refworks-tagged" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">RefWorks Tagged</a></li><li class="reference-manager"><a href="/highwire/citation/62015/reference-manager" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">Ref Manager</a></li><li class="ris"><a href="/highwire/citation/62015/ris" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">RIS</a></li><li class="zotero last"><a href="/highwire/citation/62015/zotero" class="hw-download-citation-link" data-icon-position="" data-hide-link-title="0">Zotero</a></li></ul> </div> </div> </div> </div> </div> </div> </div> </div> </div></div> </div> </div> </div> </div> </div> </div>  </div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-service-links" > <div class="pane-content"> <div class="service-links"><div class="item-list"><ul><li class="first"><a href="http://twitter.com/share?url=https%3A//www.biorxiv.org/content/10.1101/203554v1&count=horizontal&via=&text=Genomics%20in%20healthcare%3A%20GA4GH%20looks%20to%202022&counturl=https%3A//www.biorxiv.org/content/10.1101/203554v1" class="twitter-share-button service-links-twitter-widget" id="twitter_widget" title="Tweet This" rel="nofollow" data-icon-position="" data-hide-link-title="0"><span class="element-invisible">Tweet Widget</span></a></li><li><a href="http://www.facebook.com/plugins/like.php?href=https%3A//www.biorxiv.org/content/10.1101/203554v1&layout=button_count&show_faces=false&action=like&colorscheme=light&width=100&height=21&font=&locale=" id="facebook_like" title="I Like it" class="service-links-facebook-like" rel="nofollow" data-icon-position="" data-hide-link-title="0"><span class="element-invisible">Facebook Like</span></a></li><li class="last"><a href="https://www.biorxiv.org/content/10.1101/203554v1" id="google_plus_one" title="Plus it" class="service-links-google-plus-one" rel="nofollow" data-icon-position="" data-hide-link-title="0"><span class="element-invisible">Google Plus One</span></a></li></ul></div></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-highwire-article-collections" > <h2 class="pane-title">Subject Area</h2> <div class="pane-content"> <div class="highwire-list-wrapper highwire-article-collections"><div class="highwire-list"><ul class="highwire-article-collection-term-list"><li class="first last odd"><span class="highwire-article-collection-term"><a href="/collection/genomics" class="highlight" data-icon-position="" data-hide-link-title="0">Genomics<i class="icon-caret-right"></i> </a></span></li></ul></div></div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-panels-mini pane-biorxiv-subject-collections block-style-col2" > <div class="pane-content"> <div class="panel-flexible panels-flexible-new clearfix" id="mini-panel-biorxiv_subject_collections"> <div class="panel-flexible-inside panels-flexible-new-inside"> <div class="panels-flexible-region panels-flexible-region-new-center panels-flexible-region-first panels-flexible-region-last"> <div class="inside panels-flexible-region-inside panels-flexible-region-new-center-inside panels-flexible-region-inside-first panels-flexible-region-inside-last"> <div class="panel-pane pane-snippet" > <div class="pane-content"> <div class="snippet biorxiv-subject-areas-table-title" id="biorxiv-subject-areas-table-title"> <div class="snippet-content"> <b>Subject Areas</b> </div> </div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-snippet" > <div class="pane-content"> <div class="snippet biorxiv-subject-areas-view-papers" id="biorxiv-subject-areas-view-papers"> <div class="snippet-content"> <a href="/content/early/recent"><strong>All Articles</strong></a> </div> </div> </div> </div> <div class="panel-separator"></div><div class="panel-pane pane-highwire-subject-collections" > <div class="pane-content"> <ul id="collection" class="collection highwire-list-expand"><li class="outer collection depth-2 child first"><div class = "data-wrapper"><a href="/collection/animal-behavior-and-cognition" class="" data-icon-position="" data-hide-link-title="0">Animal Behavior and Cognition</a> <span class = "article-count">(5878)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/biochemistry" class="" data-icon-position="" data-hide-link-title="0">Biochemistry</a> <span class = "article-count">(13301)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/bioengineering" class="" data-icon-position="" data-hide-link-title="0">Bioengineering</a> <span class = "article-count">(10137)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/bioinformatics" class="" data-icon-position="" data-hide-link-title="0">Bioinformatics</a> <span class = "article-count">(32440)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/biophysics" class="" data-icon-position="" data-hide-link-title="0">Biophysics</a> <span class = "article-count">(16679)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/cancer-biology" class="" data-icon-position="" data-hide-link-title="0">Cancer Biology</a> <span class = "article-count">(13769)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/cell-biology" class="" data-icon-position="" data-hide-link-title="0">Cell Biology</a> <span class = "article-count">(19568)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/clinical-trials" class="" data-icon-position="" data-hide-link-title="0">Clinical Trials</a> <span class = "article-count">(138)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/developmental-biology" class="" data-icon-position="" data-hide-link-title="0">Developmental Biology</a> <span class = "article-count">(10582)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/ecology" class="" data-icon-position="" data-hide-link-title="0">Ecology</a> <span class = "article-count">(15673)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/epidemiology" class="" data-icon-position="" data-hide-link-title="0">Epidemiology</a> <span class = "article-count">(2067)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/evolutionary-biology" class="" data-icon-position="" data-hide-link-title="0">Evolutionary Biology</a> <span class = "article-count">(19979)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/genetics" class="" data-icon-position="" data-hide-link-title="0">Genetics</a> <span class = "article-count">(13185)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/genomics" class="" data-icon-position="" data-hide-link-title="0">Genomics</a> <span class = "article-count">(18294)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/immunology" class="" data-icon-position="" data-hide-link-title="0">Immunology</a> <span class = "article-count">(13404)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/microbiology" class="" data-icon-position="" data-hide-link-title="0">Microbiology</a> <span class = "article-count">(31376)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/molecular-biology" class="" data-icon-position="" data-hide-link-title="0">Molecular Biology</a> <span class = "article-count">(13080)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/neuroscience" class="" data-icon-position="" data-hide-link-title="0">Neuroscience</a> <span class = "article-count">(68430)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/paleontology" class="" data-icon-position="" data-hide-link-title="0">Paleontology</a> <span class = "article-count">(505)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/pathology" class="" data-icon-position="" data-hide-link-title="0">Pathology</a> <span class = "article-count">(2117)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/pharmacology-and-toxicology" class="" data-icon-position="" data-hide-link-title="0">Pharmacology and Toxicology</a> <span class = "article-count">(3661)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/physiology" class="" data-icon-position="" data-hide-link-title="0">Physiology</a> <span class = "article-count">(5704)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/plant-biology" class="" data-icon-position="" data-hide-link-title="0">Plant Biology</a> <span class = "article-count">(11731)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/scientific-communication-and-education" class="" data-icon-position="" data-hide-link-title="0">Scientific Communication and Education</a> <span class = "article-count">(1785)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/synthetic-biology" class="" data-icon-position="" data-hide-link-title="0">Synthetic Biology</a> <span class = "article-count">(3286)</span></div></li> <li class="outer collection depth-2 child"><div class = "data-wrapper"><a href="/collection/systems-biology" class="" data-icon-position="" data-hide-link-title="0">Systems Biology</a> <span class = "article-count">(8006)</span></div></li> <li class="outer collection depth-2 child last"><div class = "data-wrapper"><a href="/collection/zoology" class="" data-icon-position="" data-hide-link-title="0">Zoology</a> <span class = "article-count">(1812)</span></div></li> </ul> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div> </div>  </div> </div> </div> </div> </div> </div> </div> </section> </div> <div class="region region-page-bottom" id="region-page-bottom"> <div class="region-inner region-page-bottom-inner"> </div> </div><script type="text/javascript" src="https://www.biorxiv.org/sites/default/files/advagg_js/js__Vh5BcRYb6VtLoN3uam6O4DIKltYUVMjVDWtakoysPq0__Wed8jsPTirEozek7dWSCS8970Cp7a9xKKgFk6FPuSVM__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.js"></script> <script type="text/javascript" src="//d33xdlntwy0kbs.cloudfront.net/cshl_custom.js"></script> <script type="text/javascript" src="https://www.biorxiv.org/sites/default/files/advagg_js/js__BmqjBnkz3MgYCAoc25s1lDRMEjLhC3mEPVonUFIHi08__Unwv5-ZIuHBfFwytsjEx1niBVJ7n1T4lPws7VrkHXM4__qBi1_IxBCit5cy0kPEESEYug8-viuvcJTeXx_XfvdJM.js"></script> <script type="text/javascript"> <![CDATA[//><!]]> </script> <script type="text/javascript"> <![CDATA[//><!]]> </script> </body> </html>