Literature DB >> 23595601

Management of incidental findings in clinical genomic sequencing.

Joel B Krier1, Robert C Green.   

Abstract

Genomic sequencing is becoming accurate, fast, and inexpensive, and is rapidly being incorporated into clinical practice. Incidental findings, which result in large numbers from genomic sequencing, are a potential barrier to the utility of this new technology due to their high prevalence and the lack of evidence or guidelines available to guide their clinical interpretation. This unit reviews the definition, classification, and management of incidental findings from genomic sequencing. The unit focuses on the clinical aspects of handling incidental findings, with an emphasis on the key role of clinical context in defining incidental findings and determining their clinical relevance and utility.

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Year:  2013        PMID: 23595601      PMCID: PMC3763715          DOI: 10.1002/0471142905.hg0923s77

Source DB:  PubMed          Journal:  Curr Protoc Hum Genet        ISSN: 1934-8258


  56 in total

1.  Whole-body CT screening: spectrum of findings and recommendations in 1192 patients.

Authors:  Claudia D Furtado; Diego A Aguirre; Claude B Sirlin; David Dang; Stephan K Stamato; Patrick Lee; Farhad Sani; Michelle A Brown; David L Levin; Giovanna Casola
Journal:  Radiology       Date:  2005-09-16       Impact factor: 11.105

2.  Social networkers' attitudes toward direct-to-consumer personal genome testing.

Authors:  Amy L McGuire; Christina M Diaz; Tao Wang; Susan G Hilsenbeck
Journal:  Am J Bioeth       Date:  2009       Impact factor: 11.229

Review 3.  Using Alzheimer's disease as a model for genetic risk disclosure: implications for personal genomics.

Authors:  J S Roberts; K D Christensen; R C Green
Journal:  Clin Genet       Date:  2011-07-18       Impact factor: 4.438

Review 4.  Whole-genome sequencing in personalized therapeutics.

Authors:  P Cordero; E A Ashley
Journal:  Clin Pharmacol Ther       Date:  2012-06       Impact factor: 6.875

5.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

6.  Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.

Authors:  Yali Xue; Yuan Chen; Qasim Ayub; Ni Huang; Edward V Ball; Matthew Mort; Andrew D Phillips; Katy Shaw; Peter D Stenson; David N Cooper; Chris Tyler-Smith
Journal:  Am J Hum Genet       Date:  2012-12-07       Impact factor: 11.025

7.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

8.  Direct to consumer genetic testing: Avoiding a culture war.

Authors:  James P Evans; Robert C Green
Journal:  Genet Med       Date:  2009-08       Impact factor: 8.822

9.  An integrated map of genetic variation from 1,092 human genomes.

Authors:  Goncalo R Abecasis; Adam Auton; Lisa D Brooks; Mark A DePristo; Richard M Durbin; Robert E Handsaker; Hyun Min Kang; Gabor T Marth; Gil A McVean
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

10.  The Human Gene Mutation Database: 2008 update.

Authors:  Peter D Stenson; Matthew Mort; Edward V Ball; Katy Howells; Andrew D Phillips; Nick St Thomas; David N Cooper
Journal:  Genome Med       Date:  2009-01-22       Impact factor: 11.117

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  11 in total

1.  Compare and contrast: a cross-national study across UK, USA and Greek experts regarding return of incidental findings from clinical sequencing.

Authors:  Elli G Gourna; Natalie Armstrong; Susan E Wallace
Journal:  Eur J Hum Genet       Date:  2015-06-10       Impact factor: 4.246

2.  Will New Genetic Techniques Like Exome Sequencing Obviate the Need for Clinical Expertise? No.

Authors:  Kapil D Sethi; Anthony E Lang
Journal:  Mov Disord Clin Pract       Date:  2016-10-17

3.  Genetic counselors' views and experiences with the clinical integration of genome sequencing.

Authors:  Kalotina Machini; Jessica Douglas; Alicia Braxton; Judith Tsipis; Kate Kramer
Journal:  J Genet Couns       Date:  2014-03-28       Impact factor: 2.537

Review 4.  Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders.

Authors:  Ignatia B van den Veyver; Christine M Eng
Journal:  Cold Spring Harb Perspect Med       Date:  2015-08-07       Impact factor: 6.915

5.  Premature guidance about whole-genome sequencing.

Authors:  Lainie Friedman Ross; Mark A Rothstein; Ellen Wright Clayton
Journal:  Per Med       Date:  2013-08-01       Impact factor: 2.512

6.  Models of consent to return of incidental findings in genomic research.

Authors:  Paul S Appelbaum; Erik Parens; Cameron R Waldman; Robert Klitzman; Abby Fyer; Josue Martinez; W Nicholson Price; Wendy K Chung
Journal:  Hastings Cent Rep       Date:  2014-06-11       Impact factor: 2.683

7.  Management of Incidental Findings in the Era of Next-generation Sequencing.

Authors:  Heather L Blackburn; Bradley Schroeder; Clesson Turner; Craig D Shriver; Darrell L Ellsworth; Rachel E Ellsworth
Journal:  Curr Genomics       Date:  2015-06       Impact factor: 2.236

8.  A Systematic Review of the Management of Incidental Findings in Genomic Research.

Authors:  Cornelius Ewuoso
Journal:  BEOnline       Date:  2016-11-22

9.  An African Relational Approach to Healthcare and Big Data Challenges.

Authors:  Cornelius Ewuoso
Journal:  Sci Eng Ethics       Date:  2021-05-28       Impact factor: 3.525

10.  Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Authors:  Saumya Shekhar Jamuar; Jyn Ling Kuan; Maggie Brett; Zenia Tiang; Wilson Lek Wen Tan; Jiin Ying Lim; Wendy Kein Meng Liew; Asif Javed; Woei Kang Liew; Hai Yang Law; Ee Shien Tan; Angeline Lai; Ivy Ng; Yik Ying Teo; Byrappa Venkatesh; Bruno Reversade; Ene Choo Tan; Roger Foo
Journal:  EBioMedicine       Date:  2016-02-04       Impact factor: 8.143

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