Literature DB >> 33987713

Should we respect parents' views about which results to return from genomic sequencing?

D F Vears1,2,3.   

Abstract

Genomic sequencing (GS) is now well embedded in clinical practice. However, guidelines issued by professional bodies disagree about whether unsolicited findings (UF)-i.e., disease-causing changes found in the DNA unrelated to the reason for testing-should be reported if they are identified inadvertently during data analysis. This extends to a lack of clarity regarding parents' ability to decide about receiving UF for their children. To address this, I use an ethical framework, the Zone of Parental Discretion (ZPD), to consider which UF parents should be allowed to choose (not) to receive and examine how well this assessment aligns with existing professional recommendations. Assessment of guidelines shows recommendations ranging from leaving the decision to the discretion of laboratories through to mandatory reporting for UF for childhood onset, treatable/preventable conditions. The ZPD suggests that parents' decisions should be respected, even where there is no expected benefit, provided that there is not sufficient evidence of serious harm. Using this lens, parents should be able to choose whether or not to know UF for adult-onset conditions in their children, but only insofar as there is insufficient evidence that this knowledge will cause harm or benefit. In contrast, parents should not be allowed to refuse receiving UF for childhood-onset medically actionable conditions. The ZPD is a helpful tool for assessing where it is appropriate to offer parents the choice of receiving UF for their children. This has implications for refinement of policy and laboratory reporting practices, development of consent forms, and genetic counselling practice.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Year:  2021        PMID: 33987713     DOI: 10.1007/s00439-021-02293-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  13 in total

1.  Whole-genome sequencing in health care. Recommendations of the European Society of Human Genetics.

Authors:  Carla G van El; Martina C Cornel; Pascal Borry; Ros J Hastings; Florence Fellmann; Shirley V Hodgson; Heidi C Howard; Anne Cambon-Thomsen; Bartha M Knoppers; Hanne Meijers-Heijboer; Hans Scheffer; Lisbeth Tranebjaerg; Wybo Dondorp; Guido M W R de Wert
Journal:  Eur J Hum Genet       Date:  2013-06       Impact factor: 4.246

2.  Exome Sequencing and the Management of Neurometabolic Disorders.

Authors:  Maja Tarailo-Graovac; Casper Shyr; Colin J Ross; Gabriella A Horvath; Ramona Salvarinova; Xin C Ye; Lin-Hua Zhang; Amit P Bhavsar; Jessica J Y Lee; Britt I Drögemöller; Mena Abdelsayed; Majid Alfadhel; Linlea Armstrong; Matthias R Baumgartner; Patricie Burda; Mary B Connolly; Jessie Cameron; Michelle Demos; Tammie Dewan; Janis Dionne; A Mark Evans; Jan M Friedman; Ian Garber; Suzanne Lewis; Jiqiang Ling; Rupasri Mandal; Andre Mattman; Margaret McKinnon; Aspasia Michoulas; Daniel Metzger; Oluseye A Ogunbayo; Bojana Rakic; Jacob Rozmus; Peter Ruben; Bryan Sayson; Saikat Santra; Kirk R Schultz; Kathryn Selby; Paul Shekel; Sandra Sirrs; Cristina Skrypnyk; Andrea Superti-Furga; Stuart E Turvey; Margot I Van Allen; David Wishart; Jiang Wu; John Wu; Dimitrios Zafeiriou; Leo Kluijtmans; Ron A Wevers; Patrice Eydoux; Anna M Lehman; Hilary Vallance; Sylvia Stockler-Ipsiroglu; Graham Sinclair; Wyeth W Wasserman; Clara D van Karnebeek
Journal:  N Engl J Med       Date:  2016-05-25       Impact factor: 91.245

3.  Reporting practices for unsolicited and secondary findings from next-generation sequencing technologies: Perspectives of laboratory personnel.

Authors:  Danya F Vears; Karine Sénécal; Pascal Borry
Journal:  Hum Mutat       Date:  2017-06-06       Impact factor: 4.878

Review 4.  Surgical treatment of familial adenomatous polyposis: dilemmas and current recommendations.

Authors:  Fábio Guilherme Campos
Journal:  World J Gastroenterol       Date:  2014-11-28       Impact factor: 5.742

5.  Whole-exome sequencing in pediatrics: parents' considerations toward return of unsolicited findings for their child.

Authors:  Candice Cornelis; Aad Tibben; Wybo Dondorp; Mieke van Haelst; Annelien L Bredenoord; Nine Knoers; Marcus Düwell; Ineke Bolt; Marieke van Summeren
Journal:  Eur J Hum Genet       Date:  2016-07-27       Impact factor: 4.246

6.  Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.

Authors:  Adel M Abuzenadah; Galila F Zaher; Ashraf Dallol; Ghazi A Damanhouri; Adeel G Chaudhary; Faten Al-Sayes; Mamdooh A Gari; Mofareh AlZahrani; Salwa Hindawi; Mohammed H Al-Qahtani
Journal:  J Thromb Thrombolysis       Date:  2013-11       Impact factor: 2.300

7.  Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

Authors:  Sarah S Kalia; Kathy Adelman; Sherri J Bale; Wendy K Chung; Christine Eng; James P Evans; Gail E Herman; Sophia B Hufnagel; Teri E Klein; Bruce R Korf; Kent D McKelvey; Kelly E Ormond; C Sue Richards; Christopher N Vlangos; Michael Watson; Christa L Martin; David T Miller
Journal:  Genet Med       Date:  2016-11-17       Impact factor: 8.822

8.  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

9.  Attitudes of parents toward the return of targeted and incidental genomic research findings in children.

Authors:  Conrad V Fernandez; Eric Bouffet; David Malkin; Nada Jabado; Colleen O'Connell; Denise Avard; Bartha M Knoppers; Meghan Ferguson; Kym M Boycott; Poul H Sorensen; Andrew C Orr; Johane M Robitaille; Christopher R McMaster
Journal:  Genet Med       Date:  2014-01-16       Impact factor: 8.822

10.  Guidelines for the clinical management of familial adenomatous polyposis (FAP).

Authors:  H F A Vasen; G Möslein; A Alonso; S Aretz; I Bernstein; L Bertario; I Blanco; S Bülow; J Burn; G Capella; C Colas; C Engel; I Frayling; W Friedl; F J Hes; S Hodgson; H Järvinen; J-P Mecklin; P Møller; T Myrhøi; F M Nagengast; Y Parc; R Phillips; S K Clark; M Ponz de Leon; L Renkonen-Sinisalo; J R Sampson; A Stormorken; S Tejpar; H J W Thomas; J Wijnen
Journal:  Gut       Date:  2008-01-14       Impact factor: 23.059

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  2 in total

1.  Postpartum women's attitudes to disclosure of adult-onset conditions in pregnancy.

Authors:  Vitalia Libman; Michal Macarov; Yechiel Friedlander; Sidra Goldman-Mellor; Salomon Israel; Drorith Hochner-Celnikier; Yishai Sompolinsky; Uri Pinchas Dior; Michael Osovsky; Lina Basel-Salmon; Arnon Wiznitzer; Yehuda Neumark; Vardiella Meiner; Ayala Frumkin; Shiri Shkedi-Rafid; Hagit Hochner
Journal:  Prenat Diagn       Date:  2022-05-04       Impact factor: 3.242

Review 2.  A framework for reporting secondary and incidental findings in prenatal sequencing: When and for whom?

Authors:  Danya Vears; David J Amor
Journal:  Prenat Diagn       Date:  2022-01-19       Impact factor: 3.242

  2 in total

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