Literature DB >> 31395443

Building evidence and measuring clinical outcomes for genomic medicine.

Josh F Peterson1, Dan M Roden2, Lori A Orlando3, Andrea H Ramirez4, George A Mensah5, Marc S Williams6.   

Abstract

Human genomic sequencing has potential diagnostic, prognostic, and therapeutic value across a wide breadth of clinical disciplines. One barrier to widespread adoption is the paucity of evidence for improved outcomes in patients who do not already have an indication for more focused testing. In this Series paper, we review clinical outcome studies in genomic medicine and discuss the important features and key challenges to building evidence for next generation sequencing in the context of routine patient care.
Copyright © 2019 Elsevier Ltd. All rights reserved.

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Year:  2019        PMID： 31395443      PMCID： PMC6730663          DOI： 10.1016/S0140-6736(19)31278-4

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


  61 in total

Review 1.  Evaluating the public health impact of health promotion interventions: the RE-AIM framework.

Authors:  R E Glasgow; T M Vogt; S M Boles
Journal:  Am J Public Health       Date:  1999-09       Impact factor: 9.308

2.  Validation of a common data model for active safety surveillance research.

Authors:  J Marc Overhage; Patrick B Ryan; Christian G Reich; Abraham G Hartzema; Paul E Stang
Journal:  J Am Med Inform Assoc       Date:  2011-10-28       Impact factor: 4.497

3.  The evidence dilemma in genomic medicine.

Authors:  Muin J Khoury; Al Berg; Ralph Coates; James Evans; Steven M Teutsch; Linda A Bradley
Journal:  Health Aff (Millwood)       Date:  2008 Nov-Dec       Impact factor: 6.301

4.  Charting a course for genomic medicine from base pairs to bedside.

Authors:  Eric D Green; Mark S Guyer
Journal:  Nature       Date:  2011-02-10       Impact factor: 49.962

5.  Treatment of adults with familial hypercholesterolemia and evidence for treatment: recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia.

Authors:  Jennifer G Robinson; Anne C Goldberg
Journal:  J Clin Lipidol       Date:  2011-04-03       Impact factor: 4.766

6.  Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers.

Authors:  Andreas Machens; Ludwig Schaaf; Wolfram Karges; Karin Frank-Raue; Detlef K Bartsch; Matthias Rothmund; Ulrich Schneyer; Peter Goretzki; Friedhelm Raue; Henning Dralle
Journal:  Clin Endocrinol (Oxf)       Date:  2007-06-21       Impact factor: 3.478

Review 7.  Effects of communicating DNA-based disease risk estimates on risk-reducing behaviours.

Authors:  Theresa M Marteau; David P French; Simon J Griffin; A T Prevost; Stephen Sutton; Clare Watkinson; Sophie Attwood; Gareth J Hollands
Journal:  Cochrane Database Syst Rev       Date:  2010-10-06

8.  Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.

Authors: 
Journal:  Genet Med       Date:  2009-01       Impact factor: 8.822

9.  SHRINE: enabling nationally scalable multi-site disease studies.

Authors:  Andrew J McMurry; Shawn N Murphy; Douglas MacFadden; Griffin Weber; William W Simons; John Orechia; Jonathan Bickel; Nich Wattanasin; Clint Gilbert; Philip Trevvett; Susanne Churchill; Isaac S Kohane
Journal:  PLoS One       Date:  2013-03-07       Impact factor: 3.240

Review 10.  Implementing genomic medicine in the clinic: the future is here.

Authors:  Teri A Manolio; Rex L Chisholm; Brad Ozenberger; Dan M Roden; Marc S Williams; Richard Wilson; David Bick; Erwin P Bottinger; Murray H Brilliant; Charis Eng; Kelly A Frazer; Bruce Korf; David H Ledbetter; James R Lupski; Clay Marsh; David Mrazek; Michael F Murray; Peter H O'Donnell; Daniel J Rader; Mary V Relling; Alan R Shuldiner; David Valle; Richard Weinshilboum; Eric D Green; Geoffrey S Ginsburg
Journal:  Genet Med       Date:  2013-01-10       Impact factor: 8.822
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  9 in total

1.  A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis.

Authors:  Jasmine L F Fung; Mullin H C Yu; Shushu Huang; Claudia C Y Chung; Marcus C Y Chan; Sander Pajusalu; Christopher C Y Mak; Vivian C C Hui; Mandy H Y Tsang; Kit San Yeung; Monkol Lek; Brian H Y Chung
Journal:  NPJ Genom Med       Date:  2020-09-10       Impact factor: 8.617

2.  The Pharmacogenetics of Rituximab: Potential Implications for Anti-CD20 Therapies in Multiple Sclerosis.

Authors:  Michael Zhong; Anneke van der Walt; Maria Pia Campagna; Jim Stankovich; Helmut Butzkueven; Vilija Jokubaitis
Journal:  Neurotherapeutics       Date:  2020-10-14       Impact factor: 7.620

3.  Co-implantation of Tumor and Extensive Surrounding Tissue Improved the Establishment Rate of Surgical Specimens of Human-Patient Cancer in Nude Mice: Toward the Goal of Universal Individualized Cancer Therapy.

Authors:  Takuya Murata; Chihiro Hozumi; Yukihiko Hiroshima; Koichiro Shimoya; Atsushi Hongo; Sachiko Inubushi; Hirokazu Tanino; Robert M Hoffman
Journal:  In Vivo       Date:  2020 Nov-Dec       Impact factor: 2.155

4.  Assessing the utility and attitudes toward molecular testing in neuro-oncology: a survey of the Society for Neuro-Oncology members.

Authors:  Shannon Fortin Ensign; Maya Hrachova; Susan Chang; Maciej M Mrugala
Journal:  Neurooncol Pract       Date:  2021-02-17

5.  Genetic testing and employer-sponsored wellness programs: An overview of current vendors, products, and practices.

Authors:  Whitney S McDonald; Jennifer K Wagner; Patricia A Deverka; Laura A Woods; Josh F Peterson; Marc S Williams
Journal:  Mol Genet Genomic Med       Date:  2020-07-26       Impact factor: 2.183

6.  The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement.

Authors:  Graeme C Black; Panagiotis Sergouniotis; Andrea Sodi; Bart P Leroy; Caroline Van Cauwenbergh; Petra Liskova; Karen Grønskov; Artur Klett; Susanne Kohl; Gita Taurina; Marius Sukys; Lonneke Haer-Wigman; Katarzyna Nowomiejska; João Pedro Marques; Dorothée Leroux; Frans P M Cremers; Elfride De Baere; Hélène Dollfus
Journal:  Orphanet J Rare Dis       Date:  2021-03-20       Impact factor: 4.123

7.  Generating evidence for precision medicine: considerations made by the Ubiquitous Pharmacogenomics Consortium when designing and operationalizing the PREPARE study.

Authors:  Cathelijne H van der Wouden; Stefan Böhringer; Erika Cecchin; Ka-Chun Cheung; Cristina Lucía Dávila-Fajardo; Vera H M Deneer; Vita Dolžan; Magnus Ingelman-Sundberg; Siv Jönsson; Mats O Karlsson; Marjolein Kriek; Christina Mitropoulou; George P Patrinos; Munir Pirmohamed; Emmanuelle Rial-Sebbag; Matthias Samwald; Matthias Schwab; Daniela Steinberger; Julia Stingl; Gere Sunder-Plassmann; Giuseppe Toffoli; Richard M Turner; Mandy H van Rhenen; Erik van Zwet; Jesse J Swen; Henk-Jan Guchelaar
Journal:  Pharmacogenet Genomics       Date:  2020-08       Impact factor: 2.000

8.  Clinical outcomes of a genomic screening program for actionable genetic conditions.

Authors:  Adam H Buchanan; H Lester Kirchner; Marci L B Schwartz; Melissa A Kelly; Tara Schmidlen; Laney K Jones; Miranda L G Hallquist; Heather Rocha; Megan Betts; Rachel Schwiter; Loren Butry; Amanda L Lazzeri; Lauren R Frisbie; Alanna Kulchak Rahm; Jing Hao; Huntington F Willard; Christa L Martin; David H Ledbetter; Marc S Williams; Amy C Sturm
Journal:  Genet Med       Date:  2020-06-30       Impact factor: 8.864

Review 9.  The Role of Electronic Health Records in Advancing Genomic Medicine.

Authors:  Jodell E Linder; Lisa Bastarache; Jacob J Hughey; Josh F Peterson
Journal:  Annu Rev Genomics Hum Genet       Date:  2021-05-26       Impact factor: 9.340
  9 in total

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