Literature DB >> 26041702

Global implementation of genomic medicine: We are not alone.

Teri A Manolio1, Marc Abramowicz2, Fahd Al-Mulla3, Warwick Anderson4, Rudi Balling5, Adam C Berger6, Steven Bleyl7, Aravinda Chakravarti8, Wasun Chantratita9, Rex L Chisholm10, Vajira H W Dissanayake11, Michael Dunn12, Victor J Dzau13, Bok-Ghee Han14, Tim Hubbard15, Anne Kolbe16, Bruce Korf17, Michiaki Kubo18, Paul Lasko19, Erkki Leego20, Surakameth Mahasirimongkol21, Partha P Majumdar22, Gert Matthijs23, Howard L McLeod24, Andres Metspalu20, Pierre Meulien25, Satoru Miyano26, Yaakov Naparstek27, P Pearl O'Rourke28, George P Patrinos29, Heidi L Rehm30, Mary V Relling31, Gad Rennert32, Laura Lyman Rodriguez33, Dan M Roden34, Alan R Shuldiner35, Sukdeb Sinha36, Patrick Tan37, Mats Ulfendahl38, Robyn Ward39, Marc S Williams40, John E L Wong41, Eric D Green33, Geoffrey S Ginsburg42.   

Abstract

Around the world, innovative genomic-medicine programs capitalize on singular capabilities arising from local health care systems, cultural or political milieus, and unusual selected risk alleles or disease burdens. Such individual efforts might benefit from the sharing of approaches and lessons learned in other locales. The U.S. National Human Genome Research Institute and the National Academy of Medicine recently brought together 25 of these groups to compare projects, to examine the current state of implementation and desired near-term capabilities, and to identify opportunities for collaboration that promote the responsible practice of genomic medicine. Efforts to coalesce these groups around concrete but compelling signature projects should accelerate the responsible implementation of genomic medicine in efforts to improve clinical care worldwide.
Copyright © 2015, American Association for the Advancement of Science.

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Year:  2015        PMID: 26041702      PMCID: PMC4898888          DOI: 10.1126/scitranslmed.aab0194

Source DB:  PubMed          Journal:  Sci Transl Med        ISSN: 1946-6234            Impact factor:   17.956


  47 in total

1.  CPIC: Clinical Pharmacogenetics Implementation Consortium of the Pharmacogenomics Research Network.

Authors:  M V Relling; T E Klein
Journal:  Clin Pharmacol Ther       Date:  2011-01-26       Impact factor: 6.875

2.  A novel mutation in transforming growth factor-beta induced protein (TGFβIp) reveals secondary structure perturbation in lattice corneal dystrophy.

Authors:  Rajamani Lakshminarayanan; Eranga N Vithana; Shu-Ming Chai; Shyam S Chaurasia; Padhmanaban Saraswathi; Anandalaksmi Venkatraman; Camille Rojare; Divya Venkataraman; Donald Tan; Tin Aung; Roger W Beuerman; Jodhbir S Mehta
Journal:  Br J Ophthalmol       Date:  2011-08-10       Impact factor: 4.638

3.  Preventing blindness and saving lives: the centenary of vitamin A.

Authors:  Alfred Sommer
Journal:  JAMA Ophthalmol       Date:  2014-01       Impact factor: 7.389

4.  GBD 2010: a multi-investigator collaboration for global comparative descriptive epidemiology.

Authors:  Christopher J L Murray; Majid Ezzati; Abraham D Flaxman; Stephen Lim; Rafael Lozano; Catherine Michaud; Mohsen Naghavi; Joshua A Salomon; Kenji Shibuya; Theo Vos; Alan D Lopez
Journal:  Lancet       Date:  2012-12-15       Impact factor: 79.321

5.  Personalized pharmacogenomics profiling using whole-genome sequencing.

Authors:  Clint Mizzi; Brock Peters; Christina Mitropoulou; Konstantinos Mitropoulos; Theodora Katsila; Misha R Agarwal; Ron H N van Schaik; Radoje Drmanac; Joseph Borg; George P Patrinos
Journal:  Pharmacogenomics       Date:  2014-06       Impact factor: 2.533

6.  Medical genomics: Gather and use genetic data in health care.

Authors:  Geoffrey Ginsburg
Journal:  Nature       Date:  2014-04-24       Impact factor: 49.962

7.  The ClinicalTrials.gov results database--update and key issues.

Authors:  Deborah A Zarin; Tony Tse; Rebecca J Williams; Robert M Califf; Nicholas C Ide
Journal:  N Engl J Med       Date:  2011-03-03       Impact factor: 91.245

Review 8.  Pharmacogenomics of drug-induced hypersensitivity reactions: challenges, opportunities and clinical implementation.

Authors:  Chonlaphat Sukasem; Apichaya Puangpetch; Sadeep Medhasi; Wichittra Tassaneeyakul
Journal:  Asian Pac J Allergy Immunol       Date:  2014-06       Impact factor: 2.310

9.  ClinVar: public archive of relationships among sequence variation and human phenotype.

Authors:  Melissa J Landrum; Jennifer M Lee; George R Riley; Wonhee Jang; Wendy S Rubinstein; Deanna M Church; Donna R Maglott
Journal:  Nucleic Acids Res       Date:  2013-11-14       Impact factor: 16.971

10.  Pharmacogenomics: Current State-of-the-Art.

Authors:  Daniel F Carr; Ana Alfirevic; Munir Pirmohamed
Journal:  Genes (Basel)       Date:  2014-05-26       Impact factor: 4.096

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  61 in total

Review 1.  Human genotype-phenotype databases: aims, challenges and opportunities.

Authors:  Anthony J Brookes; Peter N Robinson
Journal:  Nat Rev Genet       Date:  2015-11-10       Impact factor: 53.242

Review 2.  Precision Medicine: From Science To Value.

Authors:  Geoffrey S Ginsburg; Kathryn A Phillips
Journal:  Health Aff (Millwood)       Date:  2018-05       Impact factor: 6.301

3.  A Global Collaborative to Advance Genomic Medicine.

Authors:  Geoffrey S Ginsburg
Journal:  Am J Hum Genet       Date:  2019-03-07       Impact factor: 11.025

4.  Focusing attention on ancestral diversity within genomics research: a potential means for promoting equity in the provision of genomics based healthcare services in developing countries.

Authors:  Nirmala D Sirisena; Vajira H W Dissanayake
Journal:  J Community Genet       Date:  2017-07-11

5.  A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

Authors:  Mercy Y Laurino; Kathleen A Leppig; Peter James Abad; Breana Cham; Yoyo Wing Yiu Chu; Saahil Kejriwal; Juliana M H Lee; Darci L Sternen; Jennifer K Thompson; Matthew J Burgess; Shu Chien; Niby Elackatt; Jiin Ying Lim; Thanyachai Sura; Sultana Faradz; Carmencita Padilla; Eva Cutiongco de-la Paz; Donny Nauphar; Khanh Ngoc Nguyen; Olya Zayts; Dung Chi Vu; Meow-Keong Thong
Journal:  J Genet Couns       Date:  2017-07-11       Impact factor: 2.537

6.  Counselees' Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study.

Authors:  Kevin Sweet; Shelly Hovick; Amy C Sturm; Tara Schmidlen; Erynn Gordon; Barbara Bernhardt; Lisa Wawak; Karen Wernke; Joseph McElroy; Laura Scheinfeldt; Amanda E Toland; J S Roberts; Michael Christman
Journal:  J Genet Couns       Date:  2016-12-05       Impact factor: 2.537

7.  A theory-informed systematic review of clinicians' genetic testing practices.

Authors:  Jean L Paul; Hanna Leslie; Alison H Trainer; Clara Gaff
Journal:  Eur J Hum Genet       Date:  2018-06-11       Impact factor: 4.246

8.  Integrating Genomics into Healthcare: A Global Responsibility.

Authors:  Zornitza Stark; Lena Dolman; Teri A Manolio; Brad Ozenberger; Sue L Hill; Mark J Caulfied; Yves Levy; David Glazer; Julia Wilson; Mark Lawler; Tiffany Boughtwood; Jeffrey Braithwaite; Peter Goodhand; Ewan Birney; Kathryn N North
Journal:  Am J Hum Genet       Date:  2019-01-03       Impact factor: 11.025

9.  Much ado about nothing: A qualitative study of the experiences of an average-risk population receiving results of exome sequencing.

Authors:  Shannon Rego; Orit Dagan-Rosenfeld; Stephanie A Bivona; Michael P Snyder; Kelly E Ormond
Journal:  J Genet Couns       Date:  2019-03-05       Impact factor: 2.537

Review 10.  Genetic testing for kidney disease of unknown etiology.

Authors:  Thomas Hays; Emily E Groopman; Ali G Gharavi
Journal:  Kidney Int       Date:  2020-04-24       Impact factor: 10.612

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