Literature DB >> 26239711

Return of genetic testing results in the era of whole-genome sequencing.

Bartha Maria Knoppers1, Ma'n H Zawati1, Karine Sénécal1.   

Abstract

Genetic testing based on whole-genome sequencing (WGS) often returns results that are not directly clinically actionable as well as raising the possibility of incidental (secondary) findings. In this article, we first survey the laws and policies guiding both researchers and clinicians in the return of results for WGS-based genetic testing. We then provide an overview of the landscape of international legislation and policies for return of these results, including considerations for return of incidental findings. Finally, we consider a range of approaches for the return of results.

Mesh:

Year:  2015        PMID: 26239711     DOI: 10.1038/nrg3960

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  31 in total

1.  Whole-genome sequencing and the physician.

Authors:  A Thorogood; B M Knoppers; W J Dondorp; G M W R de Wert
Journal:  Clin Genet       Date:  2012-04-09       Impact factor: 4.438

2.  Whole-genome sequencing in newborn screening programs.

Authors:  Bartha M Knoppers; Karine Sénécal; Pascal Borry; Denise Avard
Journal:  Sci Transl Med       Date:  2014-03-26       Impact factor: 17.956

3.  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

4.  Convention for the protection of human rights and dignity of the human being with regard to the application of biology and medicine: convention on human rights and biomedicine (adopted by the Committee of Ministers on 19 November 1996). Council of Europe Convention of Biomedicine.

Authors: 
Journal:  Hum Reprod       Date:  1997-09       Impact factor: 6.918

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

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

6.  A timely arrival for genomic medicine.

Authors:  Alan N Mayer; David P Dimmock; Marjorie J Arca; David P Bick; James W Verbsky; Elizabeth A Worthey; Howard J Jacob; David A Margolis
Journal:  Genet Med       Date:  2011-03       Impact factor: 8.822

7.  Incidental findings in clinical genomics: a clarification.

Authors: 
Journal:  Genet Med       Date:  2013-07-04       Impact factor: 8.822

8.  Population studies: return of research results and incidental findings Policy Statement.

Authors:  Bartha Maria Knoppers; Mylène Deschênes; Ma'n H Zawati; Anne Marie Tassé
Journal:  Eur J Hum Genet       Date:  2012-07-11       Impact factor: 4.246

9.  The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Authors:  Kym Boycott; Taila Hartley; Shelin Adam; Francois Bernier; Karen Chong; Bridget A Fernandez; Jan M Friedman; Michael T Geraghty; Stacey Hume; Bartha M Knoppers; Anne-Marie Laberge; Jacek Majewski; Roberto Mendoza-Londono; M Stephen Meyn; Jacques L Michaud; Tanya N Nelson; Julie Richer; Bekim Sadikovic; David L Skidmore; Tracy Stockley; Sherry Taylor; Clara van Karnebeek; Ma'n H Zawati; Julie Lauzon; Christine M Armour
Journal:  J Med Genet       Date:  2015-05-07       Impact factor: 6.318

10.  Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

Authors:  Heidi Carmen Howard; Bartha Maria Knoppers; Martina C Cornel; Ellen Wright Clayton; Karine Sénécal; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2015-01-28       Impact factor: 4.246

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  58 in total

1.  Disclosure of secondary findings in exome sequencing of 2480 Japanese cancer patients.

Authors:  Yasue Horiuchi; Hiroyuki Matsubayashi; Yoshimi Kiyozumi; Seiichiro Nishimura; Satomi Higashigawa; Nobuhiro Kado; Takeshi Nagashima; Maki Mizuguchi; Sumiko Ohnami; Makoto Arai; Kenichi Urakami; Masatoshi Kusuhara; Ken Yamaguchi
Journal:  Hum Genet       Date:  2020-07-24       Impact factor: 4.132

2.  A quantitative genomics map of rice provides genetic insights and guides breeding.

Authors:  Xin Wei; Jie Qiu; Kaicheng Yong; Jiongjiong Fan; Qi Zhang; Hua Hua; Jie Liu; Qin Wang; Kenneth M Olsen; Bin Han; Xuehui Huang
Journal:  Nat Genet       Date:  2021-02-01       Impact factor: 38.330

3.  Pediatric Issues in Return of Results and Incidental Findings: Weighing Autonomy and Best Interests.

Authors:  Ingrid A Holm
Journal:  Genet Test Mol Biomarkers       Date:  2017-01-31

4.  Decision role preferences for return of results from genome sequencing amongst young breast cancer patients.

Authors:  Cindy B Matsen; Sarah Lyons; Melody S Goodman; Barbara B Biesecker; Kimberly A Kaphingst
Journal:  Patient Educ Couns       Date:  2018-08-04

5.  Return of individual results in epilepsy genomic research: A view from the field.

Authors:  Ruth Ottman; Catharine Freyer; Heather C Mefford; Annapurna Poduri; Daniel H Lowenstein
Journal:  Epilepsia       Date:  2018-08-10       Impact factor: 5.864

6.  Broad Consent for Research on Biospecimens: The Views of Actual Donors at Four U.S. Medical Centers.

Authors:  Teddy D Warner; Carol J Weil; Christopher Andry; Howard B Degenholtz; Lisa Parker; Latarsha J Carithers; Michelle Feige; David Wendler; Rebecca D Pentz
Journal:  J Empir Res Hum Res Ethics       Date:  2018-02-01       Impact factor: 1.742

7.  Research Participants' Attitudes towards Receiving Information on Genetic Susceptibility to Arsenic Toxicity in Rural Bangladesh.

Authors:  Lizeth I Tamayo; Hannah Lin; Alauddin Ahmed; Hasan Shahriar; Rabiul Hasan; Golam Sarwar; Hem Mahbubul Eunus; Habibul Ahsan; Brandon L Pierce
Journal:  Public Health Genomics       Date:  2020-02-18       Impact factor: 2.000

8.  Researchers' Perspectives on Informed Consent and Ethical Review of Biobank Research in South Africa: A Cross-Sectional Study.

Authors:  Erisa Mwaka; Lyn Horn
Journal:  J Empir Res Hum Res Ethics       Date:  2019-08-05       Impact factor: 1.742

Review 9.  From Genotype to Phenotype.

Authors:  Michael Mackley; Karen McGuire; Jenny Taylor; Hugh Watkins; Elizabeth Ormondroyd
Journal:  Circ Genom Precis Med       Date:  2018-10

10.  Understanding What Information Is Valued By Research Participants, And Why.

Authors:  Consuelo H Wilkins; Brandy M Mapes; Rebecca N Jerome; Victoria Villalta-Gil; Jill M Pulley; Paul A Harris
Journal:  Health Aff (Millwood)       Date:  2019-03       Impact factor: 6.301

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