Literature DB >> 24151055

A genetic counselor's guide to using next-generation sequencing in clinical practice.

Flavia M Facio1, Kristy Lee, Julianne M O'Daniel.   

Abstract

Advances in next-generation sequencing (NGS) and rapid reductions in cost have increased the use of such technologies in research and clinical practice. However, many barriers exist to translating NGS for routine clinical use, including issues related to the interpretation of results, and the potential to find results that are secondary or incidental to the specific application of NGS. Nonetheless, NGS has become sufficiently affordable to be offered by several clinical laboratories, and increasingly it is becoming an attractive and viable option for clinicians and patients. This article reviews current NGS technologies, highlighting the information genetic counselors need to know to make informed-decisions about utilizing NGS in the clinic, and underscoring the impact of this new testing modality on the practice of genetic counseling.

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Year:  2013        PMID: 24151055     DOI: 10.1007/s10897-013-9662-7

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  33 in total

1.  The incidentalome: a threat to genomic medicine.

Authors:  Isaac S Kohane; Daniel R Masys; Russ B Altman
Journal:  JAMA       Date:  2006-07-12       Impact factor: 56.272

Review 2.  Disclosure of incidental findings from next-generation sequencing in pediatric genomic research.

Authors:  Ruqayyah Abdul-Karim; Benjamin E Berkman; David Wendler; Annette Rid; Javed Khan; Tom Badgett; Sara Chandros Hull
Journal:  Pediatrics       Date:  2013-02-11       Impact factor: 7.124

3.  New approaches to molecular diagnosis.

Authors:  Bruce R Korf; Heidi L Rehm
Journal:  JAMA       Date:  2013-04-10       Impact factor: 56.272

4.  Whole-genome sequencing for optimized patient management.

Authors:  Matthew N Bainbridge; Wojciech Wiszniewski; David R Murdock; Jennifer Friedman; Claudia Gonzaga-Jauregui; Irene Newsham; Jeffrey G Reid; John K Fink; Margaret B Morgan; Marie-Claude Gingras; Donna M Muzny; Linh D Hoang; Shahed Yousaf; James R Lupski; Richard A Gibbs
Journal:  Sci Transl Med       Date:  2011-06-15       Impact factor: 17.956

5.  The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Authors:  Leslie G Biesecker; James C Mullikin; Flavia M Facio; Clesson Turner; Praveen F Cherukuri; Robert W Blakesley; Gerard G Bouffard; Peter S Chines; Pedro Cruz; Nancy F Hansen; Jamie K Teer; Baishali Maskeri; Alice C Young; Teri A Manolio; Alexander F Wilson; Toren Finkel; Paul Hwang; Andrew Arai; Alan T Remaley; Vandana Sachdev; Robert Shamburek; Richard O Cannon; Eric D Green
Journal:  Genome Res       Date:  2009-07-14       Impact factor: 9.043

6.  Practices and policies of clinical exome sequencing providers: analysis and implications.

Authors:  Seema M Jamal; Joon-Ho Yu; Jessica X Chong; Karin M Dent; Jessie H Conta; Holly K Tabor; Michael J Bamshad
Journal:  Am J Med Genet A       Date:  2013-05       Impact factor: 2.802

7.  International network of cancer genome projects.

Authors:  Thomas J Hudson; Warwick Anderson; Axel Artez; Anna D Barker; Cindy Bell; Rosa R Bernabé; M K Bhan; Fabien Calvo; Iiro Eerola; Daniela S Gerhard; Alan Guttmacher; Mark Guyer; Fiona M Hemsley; Jennifer L Jennings; David Kerr; Peter Klatt; Patrik Kolar; Jun Kusada; David P Lane; Frank Laplace; Lu Youyong; Gerd Nettekoven; Brad Ozenberger; Jane Peterson; T S Rao; Jacques Remacle; Alan J Schafer; Tatsuhiro Shibata; Michael R Stratton; Joseph G Vockley; Koichi Watanabe; Huanming Yang; Matthew M F Yuen; Bartha M Knoppers; Martin Bobrow; Anne Cambon-Thomsen; Lynn G Dressler; Stephanie O M Dyke; Yann Joly; Kazuto Kato; Karen L Kennedy; Pilar Nicolás; Michael J Parker; Emmanuelle Rial-Sebbag; Carlos M Romeo-Casabona; Kenna M Shaw; Susan Wallace; Georgia L Wiesner; Nikolajs Zeps; Peter Lichter; Andrew V Biankin; Christian Chabannon; Lynda Chin; Bruno Clément; Enrique de Alava; Françoise Degos; Martin L Ferguson; Peter Geary; D Neil Hayes; Thomas J Hudson; Amber L Johns; Arek Kasprzyk; Hidewaki Nakagawa; Robert Penny; Miguel A Piris; Rajiv Sarin; Aldo Scarpa; Tatsuhiro Shibata; Marc van de Vijver; P Andrew Futreal; Hiroyuki Aburatani; Mónica Bayés; David D L Botwell; Peter J Campbell; Xavier Estivill; Daniela S Gerhard; Sean M Grimmond; Ivo Gut; Martin Hirst; Carlos López-Otín; Partha Majumder; Marco Marra; John D McPherson; Hidewaki Nakagawa; Zemin Ning; Xose S Puente; Yijun Ruan; Tatsuhiro Shibata; Michael R Stratton; Hendrik G Stunnenberg; Harold Swerdlow; Victor E Velculescu; Richard K Wilson; Hong H Xue; Liu Yang; Paul T Spellman; Gary D Bader; Paul C Boutros; Peter J Campbell; Paul Flicek; Gad Getz; Roderic Guigó; Guangwu Guo; David Haussler; Simon Heath; Tim J Hubbard; Tao Jiang; Steven M Jones; Qibin Li; Nuria López-Bigas; Ruibang Luo; Lakshmi Muthuswamy; B F Francis Ouellette; John V Pearson; Xose S Puente; Victor Quesada; Benjamin J Raphael; Chris Sander; Tatsuhiro Shibata; Terence P Speed; Lincoln D Stein; Joshua M Stuart; Jon W Teague; Yasushi Totoki; Tatsuhiko Tsunoda; Alfonso Valencia; David A Wheeler; Honglong Wu; Shancen Zhao; Guangyu Zhou; Lincoln D Stein; Roderic Guigó; Tim J Hubbard; Yann Joly; Steven M Jones; Arek Kasprzyk; Mark Lathrop; Nuria López-Bigas; B F Francis Ouellette; Paul T Spellman; Jon W Teague; Gilles Thomas; Alfonso Valencia; Teruhiko Yoshida; Karen L Kennedy; Myles Axton; Stephanie O M Dyke; P Andrew Futreal; Daniela S Gerhard; Chris Gunter; Mark Guyer; Thomas J Hudson; John D McPherson; Linda J Miller; Brad Ozenberger; Kenna M Shaw; Arek Kasprzyk; Lincoln D Stein; Junjun Zhang; Syed A Haider; Jianxin Wang; Christina K Yung; Anthony Cros; Anthony Cross; Yong Liang; Saravanamuttu Gnaneshan; Jonathan Guberman; Jack Hsu; Martin Bobrow; Don R C Chalmers; Karl W Hasel; Yann Joly; Terry S H Kaan; Karen L Kennedy; Bartha M Knoppers; William W Lowrance; Tohru Masui; Pilar Nicolás; Emmanuelle Rial-Sebbag; Laura Lyman Rodriguez; Catherine Vergely; Teruhiko Yoshida; Sean M Grimmond; Andrew V Biankin; David D L Bowtell; Nicole Cloonan; Anna deFazio; James R Eshleman; Dariush Etemadmoghadam; Brooke B Gardiner; Brooke A Gardiner; James G Kench; Aldo Scarpa; Robert L Sutherland; Margaret A Tempero; Nicola J Waddell; Peter J Wilson; John D McPherson; Steve Gallinger; Ming-Sound Tsao; Patricia A Shaw; Gloria M Petersen; Debabrata Mukhopadhyay; Lynda Chin; Ronald A DePinho; Sarah Thayer; Lakshmi Muthuswamy; Kamran Shazand; Timothy Beck; Michelle Sam; Lee Timms; Vanessa Ballin; Youyong Lu; Jiafu Ji; Xiuqing Zhang; Feng Chen; Xueda Hu; Guangyu Zhou; Qi Yang; Geng Tian; Lianhai Zhang; Xiaofang Xing; Xianghong Li; Zhenggang Zhu; Yingyan Yu; Jun Yu; Huanming Yang; Mark Lathrop; Jörg Tost; Paul Brennan; Ivana Holcatova; David Zaridze; Alvis Brazma; Lars Egevard; Egor Prokhortchouk; Rosamonde Elizabeth Banks; Mathias Uhlén; Anne Cambon-Thomsen; Juris Viksna; Fredrik Ponten; Konstantin Skryabin; Michael R Stratton; P Andrew Futreal; Ewan Birney; Ake Borg; Anne-Lise Børresen-Dale; Carlos Caldas; John A Foekens; Sancha Martin; Jorge S Reis-Filho; Andrea L Richardson; Christos Sotiriou; Hendrik G Stunnenberg; Giles Thoms; Marc van de Vijver; Laura van't Veer; Fabien Calvo; Daniel Birnbaum; Hélène Blanche; Pascal Boucher; Sandrine Boyault; Christian Chabannon; Ivo Gut; Jocelyne D Masson-Jacquemier; Mark Lathrop; Iris Pauporté; Xavier Pivot; Anne Vincent-Salomon; Eric Tabone; Charles Theillet; Gilles Thomas; Jörg Tost; Isabelle Treilleux; Fabien Calvo; Paulette Bioulac-Sage; Bruno Clément; Thomas Decaens; Françoise Degos; Dominique Franco; Ivo Gut; Marta Gut; Simon Heath; Mark Lathrop; Didier Samuel; Gilles Thomas; Jessica Zucman-Rossi; Peter Lichter; Roland Eils; Benedikt Brors; Jan O Korbel; Andrey Korshunov; Pablo Landgraf; Hans Lehrach; Stefan Pfister; Bernhard Radlwimmer; Guido Reifenberger; Michael D Taylor; Christof von Kalle; Partha P Majumder; Rajiv Sarin; T S Rao; M K Bhan; Aldo Scarpa; Paolo Pederzoli; Rita A Lawlor; Massimo Delledonne; Alberto Bardelli; Andrew V Biankin; Sean M Grimmond; Thomas Gress; David Klimstra; Giuseppe Zamboni; Tatsuhiro Shibata; Yusuke Nakamura; Hidewaki Nakagawa; Jun Kusada; Tatsuhiko Tsunoda; Satoru Miyano; Hiroyuki Aburatani; Kazuto Kato; Akihiro Fujimoto; Teruhiko Yoshida; Elias Campo; Carlos López-Otín; Xavier Estivill; Roderic Guigó; Silvia de Sanjosé; Miguel A Piris; Emili Montserrat; Marcos González-Díaz; Xose S Puente; Pedro Jares; Alfonso Valencia; Heinz Himmelbauer; Heinz Himmelbaue; Victor Quesada; Silvia Bea; Michael R Stratton; P Andrew Futreal; Peter J Campbell; Anne Vincent-Salomon; Andrea L Richardson; Jorge S Reis-Filho; Marc van de Vijver; Gilles Thomas; Jocelyne D Masson-Jacquemier; Samuel Aparicio; Ake Borg; Anne-Lise Børresen-Dale; Carlos Caldas; John A Foekens; Hendrik G Stunnenberg; Laura van't Veer; Douglas F Easton; Paul T Spellman; Sancha Martin; Anna D Barker; Lynda Chin; Francis S Collins; Carolyn C Compton; Martin L Ferguson; Daniela S Gerhard; Gad Getz; Chris Gunter; Alan Guttmacher; Mark Guyer; D Neil Hayes; Eric S Lander; Brad Ozenberger; Robert Penny; Jane Peterson; Chris Sander; Kenna M Shaw; Terence P Speed; Paul T Spellman; Joseph G Vockley; David A Wheeler; Richard K Wilson; Thomas J Hudson; Lynda Chin; Bartha M Knoppers; Eric S Lander; Peter Lichter; Lincoln D Stein; Michael R Stratton; Warwick Anderson; Anna D Barker; Cindy Bell; Martin Bobrow; Wylie Burke; Francis S Collins; Carolyn C Compton; Ronald A DePinho; Douglas F Easton; P Andrew Futreal; Daniela S Gerhard; Anthony R Green; Mark Guyer; Stanley R Hamilton; Tim J Hubbard; Olli P Kallioniemi; Karen L Kennedy; Timothy J Ley; Edison T Liu; Youyong Lu; Partha Majumder; Marco Marra; Brad Ozenberger; Jane Peterson; Alan J Schafer; Paul T Spellman; Hendrik G Stunnenberg; Brandon J Wainwright; Richard K Wilson; Huanming Yang
Journal:  Nature       Date:  2010-04-15       Impact factor: 49.962

Review 8.  Disease-targeted sequencing: a cornerstone in the clinic.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2013-03-12       Impact factor: 53.242

9.  Point-counterpoint. Ethics and genomic incidental findings.

Authors:  Amy L McGuire; Steven Joffe; Barbara A Koenig; Barbara B Biesecker; Laurence B McCullough; Jennifer S Blumenthal-Barby; Timothy Caulfield; Sharon F Terry; Robert C Green
Journal:  Science       Date:  2013-05-16       Impact factor: 47.728

10.  Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Authors:  Jonathan Rios; Evan Stein; Jay Shendure; Helen H Hobbs; Jonathan C Cohen
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150

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  13 in total

Review 1.  Disorders of sex development: effect of molecular diagnostics.

Authors:  John C Achermann; Sorahia Domenice; Tania A S S Bachega; Mirian Y Nishi; Berenice B Mendonca
Journal:  Nat Rev Endocrinol       Date:  2015-05-05       Impact factor: 43.330

2.  Patient hopes for diagnostic genomic sequencing: roles of uncertainty and social status.

Authors:  Cynthia M Khan; Elizabeth G Moore; Cristina Leos; Christine Rini
Journal:  Eur J Hum Genet       Date:  2015-09-23       Impact factor: 4.246

3.  Genetic Counseling in the Era of Genomics: What's all the Fuss about?

Authors:  Gemma R Brett; Ella J Wilkins; Emma T Creed; Kirsty West; Anna Jarmolowicz; Giulia M Valente; Yael Prawer; Elly Lynch; Ivan Macciocca
Journal:  J Genet Couns       Date:  2018-01-24       Impact factor: 2.537

4.  Not the End of the Odyssey: Parental Perceptions of Whole Exome Sequencing (WES) in Pediatric Undiagnosed Disorders.

Authors:  Allyn McConkie Rosell; Loren D M Pena; Kelly Schoch; Rebecca Spillmann; Jennifer Sullivan; Stephen R Hooper; Yong-Hui Jiang; Nicolas Mathey-Andrews; David B Goldstein; Vandana Shashi
Journal:  J Genet Couns       Date:  2016-02-12       Impact factor: 2.537

5.  Psychological adaptation to diagnostic genomic sequencing results: The role of hope fulfillment.

Authors:  Ida Griesemer; Elizabeth Moore; Cynthia Khan; Myra Roche; Gail Henderson; Christine Rini
Journal:  Health Psychol       Date:  2019-04-08       Impact factor: 4.267

6.  How can psychological science inform research about genetic counseling for clinical genomic sequencing?

Authors:  Cynthia M Khan; Christine Rini; Barbara A Bernhardt; J Scott Roberts; Kurt D Christensen; James P Evans; Kyle B Brothers; Myra I Roche; Jonathan S Berg; Gail E Henderson
Journal:  J Genet Couns       Date:  2014-12-09       Impact factor: 2.537

7.  Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

Authors:  Megan E Grove; Shana White; Dianna G Fisk; Shannon Rego; Orit Dagan-Rosenfeld; Jennefer N Kohler; Chloe M Reuter; Devon Bonner; Matthew T Wheeler; Jonathan A Bernstein; Kelly E Ormond; Andrea K Hanson-Kahn
Journal:  J Genet Couns       Date:  2019-02-01       Impact factor: 2.537

8.  Characterizing Participants in the ClinSeq Genome Sequencing Cohort as Early Adopters of a New Health Technology.

Authors:  Katie L Lewis; Paul K J Han; Gillian W Hooker; William M P Klein; Leslie G Biesecker; Barbara B Biesecker
Journal:  PLoS One       Date:  2015-07-17       Impact factor: 3.240

9.  Implementation of personalized medicine in Central-Eastern Europe: pitfalls and potentials based on citizen's attitude.

Authors:  Peter Balicza; Andras Terebessy; Zoltan Grosz; Noemi Agnes Varga; Aniko Gal; Balint Andras Fekete; Maria Judit Molnar
Journal:  EPMA J       Date:  2018-02-09       Impact factor: 6.543

10.  Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.

Authors:  Oscar Campuzano; Georgia Sarquella-Brugada; Irene Mademont-Soler; Catarina Allegue; Sergi Cesar; Carles Ferrer-Costa; Monica Coll; Jesus Mates; Anna Iglesias; Josep Brugada; Ramon Brugada
Journal:  PLoS One       Date:  2014-12-10       Impact factor: 3.240

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