Literature DB >> 25612602

A one-page summary report of genome sequencing for the healthy adult.

Jason L Vassy1, Heather M McLaughlin, Heather L McLaughlin, Calum A MacRae, Christine E Seidman, Denise Lautenbach, Joel B Krier, William J Lane, Isaac S Kohane, Michael F Murray, Amy L McGuire, Heidi L Rehm, Robert C Green.   

Abstract

As genome sequencing technologies increasingly enter medical practice, genetics laboratories must communicate sequencing results effectively to nongeneticist physicians. We describe the design and delivery of a clinical genome sequencing report, including a one-page summary suitable for interpretation by primary care physicians. To illustrate our preliminary experience with this report, we summarize the genomic findings from 10 healthy participants in a study of genome sequencing in primary care.
© 2015 S. Karger AG, Basel.

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Mesh：

Year:  2015        PMID： 25612602      PMCID： PMC4348325          DOI： 10.1159/000370102

Source DB:  PubMed          Journal:  Public Health Genomics        ISSN： 1662-4246            Impact factor:   2.000


  21 in total

1.  Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.

Authors:  Irmgard Nippert; Hilary J Harris; Claire Julian-Reynier; Ulf Kristoffersson; Leo P Ten Kate; Elizabeth Anionwu; Caroline Benjamin; Kirsty Challen; Jörg Schmidtke; R Peter Nippert; Rodney Harris
Journal:  J Community Genet       Date:  2010-12-04

Review 2.  Diagnostic clinical genome and exome sequencing.

Authors:  Leslie G Biesecker; Robert C Green
Journal:  N Engl J Med       Date:  2014-06-19       Impact factor: 91.245

Review 3.  Pharmacogenomics knowledge for personalized medicine.

Authors:  M Whirl-Carrillo; E M McDonagh; J M Hebert; L Gong; K Sangkuhl; C F Thorn; R B Altman; T E Klein
Journal:  Clin Pharmacol Ther       Date:  2012-10       Impact factor: 6.875

4.  Whole-genome sequencing of multiple myeloma from diagnosis to plasma cell leukemia reveals genomic initiating events, evolution, and clonal tides.

Authors:  Jan B Egan; Chang-Xin Shi; Waibhav Tembe; Alexis Christoforides; Ahmet Kurdoglu; Shripad Sinari; Sumit Middha; Yan Asmann; Jessica Schmidt; Esteban Braggio; Jonathan J Keats; Rafael Fonseca; P Leif Bergsagel; David W Craig; John D Carpten; A Keith Stewart
Journal:  Blood       Date:  2012-04-23       Impact factor: 22.113

5.  Primary care physicians' knowledge of and experience with pharmacogenetic testing.

Authors:  S B Haga; W Burke; G S Ginsburg; R Mills; R Agans
Journal:  Clin Genet       Date:  2012-07-03       Impact factor: 4.438

6.  Points to consider in the clinical application of genomic sequencing.

Authors: 
Journal:  Genet Med       Date:  2012-08       Impact factor: 8.822

7.  ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

Authors:  C Sue Richards; Sherri Bale; Daniel B Bellissimo; Soma Das; Wayne W Grody; Madhuri R Hegde; Elaine Lyon; Brian E Ward
Journal:  Genet Med       Date:  2008-04       Impact factor: 8.822

8.  ACMG clinical laboratory standards for next-generation sequencing.

Authors:  Heidi L Rehm; Sherri J Bale; Pinar Bayrak-Toydemir; Jonathan S Berg; Kerry K Brown; Joshua L Deignan; Michael J Friez; Birgit H Funke; Madhuri R Hegde; Elaine Lyon
Journal:  Genet Med       Date:  2013-07-25       Impact factor: 8.822

9.  The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine.

Authors:  Jason L Vassy; Denise M Lautenbach; Heather M McLaughlin; Sek Won Kong; Kurt D Christensen; Joel Krier; Isaac S Kohane; Lindsay Z Feuerman; Jennifer Blumenthal-Barby; J Scott Roberts; Lisa Soleymani Lehmann; Carolyn Y Ho; Peter A Ubel; Calum A MacRae; Christine E Seidman; Michael F Murray; Amy L McGuire; Heidi L Rehm; Robert C Green
Journal:  Trials       Date:  2014-03-20       Impact factor: 2.279

Review 10.  Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium.

Authors:  Jonathan S Berg; Laura M Amendola; Christine Eng; Eliezer Van Allen; Stacy W Gray; Nikhil Wagle; Heidi L Rehm; Elizabeth T DeChene; Matthew C Dulik; Fuki M Hisama; Wylie Burke; Nancy B Spinner; Levi Garraway; Robert C Green; Sharon Plon; James P Evans; Gail P Jarvik
Journal:  Genet Med       Date:  2013-10-24       Impact factor: 8.822
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  18 in total

1.  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

2.  The Clinical Genome and Ancestry Report: An interactive web application for prioritizing clinically implicated variants from genome sequencing data with ancestry composition.

Authors:  In-Hee Lee; Jose A Negron; Carles Hernandez-Ferrer; William Jefferson Alvarez; Kenneth D Mandl; Sek Won Kong
Journal:  Hum Mutat       Date:  2019-11-15       Impact factor: 4.878

3.  How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.

Authors:  Jason L Vassy; J Kelly Davis; Christine Kirby; Ian J Richardson; Robert C Green; Amy L McGuire; Peter A Ubel
Journal:  J Gen Intern Med       Date:  2018-01-26       Impact factor: 5.128

4.  A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.

Authors:  Allison L Cirino; Neal K Lakdawala; Barbara McDonough; Lauren Conner; Dale Adler; Mark Weinfeld; Patrick O'Gara; Heidi L Rehm; Kalotina Machini; Matthew Lebo; Carrie Blout; Robert C Green; Calum A MacRae; Christine E Seidman; Carolyn Y Ho
Journal:  Circ Cardiovasc Genet       Date:  2017-10

5.  Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study.

Authors:  William J Lane; Connie M Westhoff; Nicholas S Gleadall; Maria Aguad; Robin Smeland-Wagman; Sunitha Vege; Daimon P Simmons; Helen H Mah; Matthew S Lebo; Klaudia Walter; Nicole Soranzo; Emanuele Di Angelantonio; John Danesh; David J Roberts; Nick A Watkins; Willem H Ouwehand; Adam S Butterworth; Richard M Kaufman; Heidi L Rehm; Leslie E Silberstein; Robert C Green
Journal:  Lancet Haematol       Date:  2018-05-17       Impact factor: 18.959

6.  The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

Authors:  Jason L Vassy; Kurt D Christensen; Erica F Schonman; Carrie L Blout; Jill O Robinson; Joel B Krier; Pamela M Diamond; Matthew Lebo; Kalotina Machini; Danielle R Azzariti; Dmitry Dukhovny; David W Bates; Calum A MacRae; Michael F Murray; Heidi L Rehm; Amy L McGuire; Robert C Green
Journal:  Ann Intern Med       Date:  2017-06-27       Impact factor: 25.391

7.  Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Authors:  Robert C Green; Katrina A B Goddard; Gail P Jarvik; Laura M Amendola; Paul S Appelbaum; Jonathan S Berg; Barbara A Bernhardt; Leslie G Biesecker; Sawona Biswas; Carrie L Blout; Kevin M Bowling; Kyle B Brothers; Wylie Burke; Charlisse F Caga-Anan; Arul M Chinnaiyan; Wendy K Chung; Ellen W Clayton; Gregory M Cooper; Kelly East; James P Evans; Stephanie M Fullerton; Levi A Garraway; Jeremy R Garrett; Stacy W Gray; Gail E Henderson; Lucia A Hindorff; Ingrid A Holm; Michelle Huckaby Lewis; Carolyn M Hutter; Pasi A Janne; Steven Joffe; David Kaufman; Bartha M Knoppers; Barbara A Koenig; Ian D Krantz; Teri A Manolio; Laurence McCullough; Jean McEwen; Amy McGuire; Donna Muzny; Richard M Myers; Deborah A Nickerson; Jeffrey Ou; Donald W Parsons; Gloria M Petersen; Sharon E Plon; Heidi L Rehm; J Scott Roberts; Dan Robinson; Joseph S Salama; Sarah Scollon; Richard R Sharp; Brian Shirts; Nancy B Spinner; Holly K Tabor; Peter Tarczy-Hornoch; David L Veenstra; Nikhil Wagle; Karen Weck; Benjamin S Wilfond; Kirk Wilhelmsen; Susan M Wolf; Julia Wynn; Joon-Ho Yu
Journal:  Am J Hum Genet       Date:  2016-05-12       Impact factor: 11.025

8.  User-centered design of multi-gene sequencing panel reports for clinicians.

Authors:  Elizabeth Cutting; Meghan Banchero; Amber L Beitelshees; James J Cimino; Guilherme Del Fiol; Ayse P Gurses; Mark A Hoffman; Linda Jo Bone Jeng; Kensaku Kawamoto; Mark Kelemen; Harold Alan Pincus; Alan R Shuldiner; Marc S Williams; Toni I Pollin; Casey Lynnette Overby
Journal:  J Biomed Inform       Date:  2016-07-14       Impact factor: 6.317

9.  How do providers discuss the results of pediatric exome sequencing with families?

Authors:  Sarah A Walser; Allison Werner-Lin; Rebecca Mueller; Victoria A Miller; Sawona Biswas; Barbara A Bernhardt
Journal:  Per Med       Date:  2017-09-04       Impact factor: 2.512

10.  Barriers to clinical adoption of next-generation sequencing: a policy Delphi panel's solutions.

Authors:  Donna A Messner; Pei Koay; Jennifer Al Naber; Robert Cook-Deegan; Mary Majumder; Gail Javitt; Rachel Dvoskin; Juli Bollinger; Margaret Curnutte; Amy L McGuire
Journal:  Per Med       Date:  2017-06-23       Impact factor: 2.512
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