Integrating Genomics into Healthcare: A Global Responsibility
Zornitza Stark,Lena Dolman,Teri A. Manolio,Brad Ozenberger,Sue Hill,Mark J. Caulfied,Yves Levy,David Glazer,Julia Wilson,Mark Lawler,Tiffany Boughtwood,Jeffrey Braithwaite,Peter Goodhand,Ewan Birney,Kathryn N. North +14 more
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TLDR
This work reviews the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provides a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.Abstract:
Genomic sequencing is rapidly transitioning into clinical practice, and implementation into healthcare systems has been supported by substantial government investment, totaling over US$4 billion, in at least 14 countries. These national genomic-medicine initiatives are driving transformative change under real-life conditions while simultaneously addressing barriers to implementation and gathering evidence for wider adoption. We review the diversity of approaches and current progress made by national genomic-medicine initiatives in the UK, France, Australia, and US and provide a roadmap for sharing strategies, standards, and data internationally to accelerate implementation.read more
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The Answer Is 17 Years, What Is the Question
TL;DR: The study concludes that understanding lags first requires agreeing models, definitions and measures, which can be applied in practice, and a second task would be to develop a process by which to gather these data.
Journal ArticleDOI
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.
Antonio Rueda Martin,Eleanor Williams,Rebecca E. Foulger,Sarah Leigh,Louise C. Daugherty,Olivia Niblock,Ivone U. S. Leong,Katherine R. Smith,Oleg Gerasimenko,Eik Haraldsdottir,Ellen Thomas,Richard H Scott,Emma L. Baple,Emma L. Baple,Arianna Tucci,Helen Brittain,Anna de Burca,Kristina Ibáñez,D. Kasperaviciute,Damian Smedley,Mark J. Caulfield,Augusto Rendon,Ellen M. McDonagh +22 more
TL;DR: panelapp.co.uk is a publicly available knowledge base of curated virtual gene panels that addresses the lack of consensus as to which genes have sufficient evidence to attribute causation in rare-disease diagnostics.
Journal ArticleDOI
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Stephen F. Kingsmore,Julie A. Cakici,Julie A. Cakici,Michelle M. Clark,Mary Gaughran,Michele Feddock,Sergey Batalov,Matthew N. Bainbridge,Jeanne Carroll,Jeanne Carroll,Sara A. Caylor,Christina Clarke,Yan Ding,Katarzyna A. Ellsworth,Lauge Farnaes,Lauge Farnaes,Amber Hildreth,Amber Hildreth,Amber Hildreth,Charlotte A. Hobbs,Kiely N. James,Cyrielle Kint,Jerica Lenberg,Shareef Nahas,Lance Prince,Iris Reyes,Lisa Salz,Erica Sanford,Erica Sanford,Peter Schols,Nathaly M. Sweeney,Nathaly M. Sweeney,Mari Tokita,Narayanan Veeraraghavan,Kelly Watkins,Kristen Wigby,Kristen Wigby,Terence C. Wong,Shimul Chowdhury,Meredith S. Wright,David Dimmock,Zaira Bezares,Cinnamon S. Bloss,Joshua J.A. Braun,Carlos Diaz,Dana Mashburn,Dorjee Tamang,Daniken Orendain,Jenni Friedman,Joe Gleeson,Jaime Barea,George Chiang,Casey Cohenmeyer,Nicole G. Coufal,Marva Evans,Jose Honold,Raymond Hovey,Amy S. Kimball,Brian Lane,Crystal Le,Jennie Le,Sandra Leibel,Laurel Moyer,Patrick Mulrooney,Daeheon Oh,Paulina Ordonez,Albert Oriol,Maria Ortiz-Arechiga,Laura Puckett,Mark Speziale,Denise Suttner,Lucitia Van Der Kraan,Gail Knight,Charles Sauer,Richard S. Song,Sarah White,Audra Wise,Catherine Yamada +77 more
TL;DR: In conclusion, rapid genomic sequencing can be performed as a first-tier diagnostic test in inpatient infants and urWGS had the shortest time to result, which was important in unstable infants, and those in whom a genetic diagnosis was likely to impact immediate management.
Journal ArticleDOI
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation
Michelle M. Clark,Amber Hildreth,Amber Hildreth,Amber Hildreth,Sergey Batalov,Yan Ding,Shimul Chowdhury,Kelly Watkins,Katarzyna A. Ellsworth,Brandon Camp,Cyrielle Kint,Calum Yacoubian,Lauge Farnaes,Lauge Farnaes,Matthew N. Bainbridge,Curtis Beebe,Joshua J.A. Braun,Margaret Bray,Jeanne Carroll,Jeanne Carroll,Julie A. Cakici,Sara A. Caylor,Christina Clarke,Mitchell Creed,Jennifer Friedman,Jennifer Friedman,Alison Frith,Richard Gain,Mary Gaughran,Shauna George,Sheldon Gilmer,Joseph G. Gleeson,Joseph G. Gleeson,Jeremy Gore,Haiying Li Grunenwald,Raymond Hovey,Marie L. Janes,Kejia Lin,Paul D. McDonagh,Kyle McBride,Patrick Mulrooney,Shareef Nahas,Daeheon Oh,Albert Oriol,Laura Puckett,Zia Rady,Martin G. Reese,Julie Ryu,Julie Ryu,Lisa Salz,Erica Sanford,Erica Sanford,Lawrence Stewart,Nathaly M. Sweeney,Nathaly M. Sweeney,Mari Tokita,Luca Van Der Kraan,Sarah White,Kristen Wigby,Kristen Wigby,Brett Williams,Terence C. Wong,Meredith S. Wright,Catherine Yamada,Peter Schols,John Reynders,Kevin Hall,David Dimmock,Narayanan Veeraraghavan,Thomas Defay,Stephen F. Kingsmore +70 more
TL;DR: A platform for population-scale, provisional diagnosis of genetic diseases with automated phenotyping and interpretation and could aid clinicians to expedite an accurate genetic disease diagnosis, potentially hastening lifesaving changes to patient care.
Journal ArticleDOI
Personalized Medicine and the Power of Electronic Health Records.
TL;DR: Advances in the digitization of health information and the proliferation of genomic research in health systems are reviewed and insights are provided into emerging paths for the widespread implementation of personalized medicine.
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The Answer Is 17 Years, What Is the Question
TL;DR: The study concludes that understanding lags first requires agreeing models, definitions and measures, which can be applied in practice, and a second task would be to develop a process by which to gather these data.
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