Literature DB >> 23643378

Incidental variants are critical for genomics.

Leslie G Biesecker1.   

Abstract

The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for and against the deliberate analysis and return of incidental variants focus on issues of clinical validity, clinical utility, autonomy, clinical and research infrastructure and costs, and, in the research arena, therapeutic misconception. These topics are briefly reviewed and an argument is made that these variants are the future of genomic medicine. As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine.
Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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Year:  2013        PMID: 23643378      PMCID: PMC3644628          DOI: 10.1016/j.ajhg.2013.04.001

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN: 0002-9297            Impact factor:   11.025


  37 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.  Empirical analysis of current approaches to incidental findings.

Authors:  Frances Lawrenz; Suzanne Sobotka
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

3.  Public perspectives on informed consent for biobanking.

Authors:  Juli Murphy; Joan Scott; David Kaufman; Gail Geller; Lisa LeRoy; Kathy Hudson
Journal:  Am J Public Health       Date:  2009-10-15       Impact factor: 9.308

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.  Motivators for participation in a whole-genome sequencing study: implications for translational genomics research.

Authors:  Flavia M Facio; Stephanie Brooks; Johanna Loewenstein; Susannah Green; Leslie G Biesecker; Barbara B Biesecker
Journal:  Eur J Hum Genet       Date:  2011-07-06       Impact factor: 4.246

6.  Perspectives of clinical genetics professionals toward genome sequencing and incidental findings: a survey study.

Authors:  A A Lemke; D Bick; D Dimmock; P Simpson; R Veith
Journal:  Clin Genet       Date:  2012-12-07       Impact factor: 4.438

7.  Carrier testing for severe childhood recessive diseases by next-generation sequencing.

Authors:  Callum J Bell; Darrell L Dinwiddie; Neil A Miller; Shannon L Hateley; Elena E Ganusova; Joann Mudge; Ray J Langley; Lu Zhang; Clarence C Lee; Faye D Schilkey; Vrunda Sheth; Jimmy E Woodward; Heather E Peckham; Gary P Schroth; Ryan W Kim; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2011-01-12       Impact factor: 17.956

8.  Researcher perspectives on disclosure of incidental findings in genetic research.

Authors:  Meredith C Meacham; Helene Starks; Wylie Burke; Kelly Edwards
Journal:  J Empir Res Hum Res Ethics       Date:  2010-09       Impact factor: 1.742

9.  Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group.

Authors:  Richard R Fabsitz; Amy McGuire; Richard R Sharp; Mona Puggal; Laura M Beskow; Leslie G Biesecker; Ebony Bookman; Wylie Burke; Esteban Gonzalez Burchard; George Church; Ellen Wright Clayton; John H Eckfeldt; Conrad V Fernandez; Rebecca Fisher; Stephanie M Fullerton; Stacey Gabriel; Francine Gachupin; Cynthia James; Gail P Jarvik; Rick Kittles; Jennifer R Leib; Christopher O'Donnell; P Pearl O'Rourke; Laura Lyman Rodriguez; Sheri D Schully; Alan R Shuldiner; Rebecca K F Sze; Joseph V Thakuria; Susan M Wolf; Gregory L Burke
Journal:  Circ Cardiovasc Genet       Date:  2010-12

10.  Incidental findings in genetics research using archived DNA.

Authors:  Ellen Wright Clayton
Journal:  J Law Med Ethics       Date:  2008       Impact factor: 1.718

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  18 in total

1.  Towards a European consensus for reporting incidental findings during clinical NGS testing.

Authors:  Jayne Y Hehir-Kwa; Mireille Claustres; Ros J Hastings; Conny van Ravenswaaij-Arts; Gabrielle Christenhusz; Maurizio Genuardi; Béla Melegh; Anne Cambon-Thomsen; Philippos Patsalis; Joris Vermeesch; Martina C Cornel; Beverly Searle; Aarno Palotie; Ettore Capoluongo; Borut Peterlin; Xavier Estivill; Peter N Robinson
Journal:  Eur J Hum Genet       Date:  2015-06-03       Impact factor: 4.246

2.  Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.

Authors:  Abhinav Jain; Shrey Gandhi; Remya Koshy; Vinod Scaria
Journal:  Mol Genet Genomics       Date:  2018-03-20       Impact factor: 3.291

3.  Research participants in NGS studies want to know about incidental findings.

Authors:  Anne Marie Jelsig; Niels Qvist; Klaus Brusgaard; Lilian Bomme Ousager
Journal:  Eur J Hum Genet       Date:  2015-01-21       Impact factor: 4.246

4.  CAGI4 SickKids clinical genomes challenge: A pipeline for identifying pathogenic variants.

Authors:  Lipika R Pal; Kunal Kundu; Yizhou Yin; John Moult
Journal:  Hum Mutat       Date:  2017-06-27       Impact factor: 4.878

5.  Societal preferences for the return of incidental findings from clinical genomic sequencing: a discrete-choice experiment.

Authors:  Dean A Regier; Stuart J Peacock; Reka Pataky; Kimberly van der Hoek; Gail P Jarvik; Jeffrey Hoch; David Veenstra
Journal:  CMAJ       Date:  2015-03-09       Impact factor: 8.262

6.  Grappling with genomic incidental findings in the clinical realm.

Authors:  Sara Chandros Hull; Benjamin E Berkman
Journal:  Chest       Date:  2014-02       Impact factor: 9.410

7.  Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.

Authors:  Joon-Ho Yu; Tanya M Harrell; Seema M Jamal; Holly K Tabor; Michael J Bamshad
Journal:  Am J Hum Genet       Date:  2014-06-26       Impact factor: 11.025

8.  Informed Consent in Translational Genomics: Insufficient Without Trustworthy Governance.

Authors:  Wylie Burke; Laura M Beskow; Susan Brown Trinidad; Stephanie M Fullerton; Kathleen Brelsford
Journal:  J Law Med Ethics       Date:  2018-03-27       Impact factor: 1.718

Review 9.  Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.

Authors:  Wylie Burke; Ellen Wright Clayton; Susan M Wolf; Susan A Berry; Barbara J Evans; James P Evans; Ralph Hall; Diane Korngiebel; Anne-Marie Laberge; Bonnie S LeRoy; Amy L McGuire
Journal:  Genet Med       Date:  2019-06-04       Impact factor: 8.822

Review 10.  The translational potential of research on the ethical, legal, and social implications of genomics.

Authors:  Wylie Burke; Paul Appelbaum; Lauren Dame; Patricia Marshall; Nancy Press; Reed Pyeritz; Richard Sharp; Eric Juengst
Journal:  Genet Med       Date:  2014-06-19       Impact factor: 8.822

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