Literature DB >> 23761042

Genomic medicine: a decade of successes, challenges, and opportunities.

Jeanette J McCarthy1, Howard L McLeod, Geoffrey S Ginsburg.   

Abstract

Genomic medicine--an aspirational term 10 years ago--is gaining momentum across the entire clinical continuum from risk assessment in healthy individuals to genome-guided treatment in patients with complex diseases. We review the latest achievements in genome research and their impact on medicine, primarily in the past decade. In most cases, genomic medicine tools remain in the realm of research, but some tools are crossing over into clinical application, where they have the potential to markedly alter the clinical care of patients. In this State of the Art Review, we highlight notable examples including the use of next-generation sequencing in cancer pharmacogenomics, in the diagnosis of rare disorders, and in the tracking of infectious disease outbreaks. We also discuss progress in dissecting the molecular basis of common diseases, the role of the host microbiome, the identification of drug response biomarkers, and the repurposing of drugs. The significant challenges of implementing genomic medicine are examined, along with the innovative solutions being sought. These challenges include the difficulty in establishing clinical validity and utility of tests, how to increase awareness and promote their uptake by clinicians, a changing regulatory and coverage landscape, the need for education, and addressing the ethical aspects of genomics for patients and society. Finally, we consider the future of genomics in medicine and offer a glimpse of the forces shaping genomic medicine, such as fundamental shifts in how we define disease, how medicine is delivered to patients, and how consumers are managing their own health and affecting change.

Entities:  

Mesh:

Year:  2013        PMID: 23761042     DOI: 10.1126/scitranslmed.3005785

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


  87 in total

Review 1.  Applications of high-throughput DNA sequencing to benign hematology.

Authors:  Vijay G Sankaran; Patrick G Gallagher
Journal:  Blood       Date:  2013-09-10       Impact factor: 22.113

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.  Is the ``$1000 Genome'' really $1000? Understanding the full benefits and costs of genomic sequencing.

Authors:  Kathryn A Phillips; Mark J Pletcher; Uri Ladabaum
Journal:  Technol Health Care       Date:  2015       Impact factor: 1.285

Review 4.  Global implementation of genomic medicine: We are not alone.

Authors:  Teri A Manolio; Marc Abramowicz; Fahd Al-Mulla; Warwick Anderson; Rudi Balling; Adam C Berger; Steven Bleyl; Aravinda Chakravarti; Wasun Chantratita; Rex L Chisholm; Vajira H W Dissanayake; Michael Dunn; Victor J Dzau; Bok-Ghee Han; Tim Hubbard; Anne Kolbe; Bruce Korf; Michiaki Kubo; Paul Lasko; Erkki Leego; Surakameth Mahasirimongkol; Partha P Majumdar; Gert Matthijs; Howard L McLeod; Andres Metspalu; Pierre Meulien; Satoru Miyano; Yaakov Naparstek; P Pearl O'Rourke; George P Patrinos; Heidi L Rehm; Mary V Relling; Gad Rennert; Laura Lyman Rodriguez; Dan M Roden; Alan R Shuldiner; Sukdeb Sinha; Patrick Tan; Mats Ulfendahl; Robyn Ward; Marc S Williams; John E L Wong; Eric D Green; Geoffrey S Ginsburg
Journal:  Sci Transl Med       Date:  2015-06-03       Impact factor: 17.956

5.  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

6.  Current Status and Future Opportunities in Lung Precision Medicine Research with a Focus on Biomarkers. An American Thoracic Society/National Heart, Lung, and Blood Institute Research Statement.

Authors:  Ann Chen Wu; James P Kiley; Patricia J Noel; Shashi Amur; Esteban G Burchard; John P Clancy; Joshua Galanter; Maki Inada; Tiffanie K Jones; Jonathan A Kropski; James E Loyd; Lawrence M Nogee; Benjamin A Raby; Angela J Rogers; David A Schwartz; Don D Sin; Avrum Spira; Scott T Weiss; Lisa R Young; Blanca E Himes
Journal:  Am J Respir Crit Care Med       Date:  2018-12-15       Impact factor: 21.405

7.  Sequence-Specific Covalent Capture Coupled with High-Contrast Nanopore Detection of a Disease-Derived Nucleic Acid Sequence.

Authors:  Maryam Imani Nejad; Ruicheng Shi; Xinyue Zhang; Li-Qun Gu; Kent S Gates
Journal:  Chembiochem       Date:  2017-05-26       Impact factor: 3.164

8.  Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

Authors:  Shubhangi Arora; Eden Haverfield; Gabriele Richard; Susanne B Haga; Rachel Mills
Journal:  J Genet Couns       Date:  2015-08-19       Impact factor: 2.537

9.  Personalized medicine: from genotypes and molecular phenotypes towards therapy- session introduction.

Authors:  Jennifer Listgarten; Oliver Stegle; Quaid Morris; Steven E Brenner; Leopold Parts
Journal:  Pac Symp Biocomput       Date:  2014

10.  Liver cancer oncogenomics: opportunities and dilemmas for clinical applications.

Authors:  Jens U Marquardt; Jesper B Andersen
Journal:  Hepat Oncol       Date:  2015
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