Literature DB >> 26036857

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

Jayne Y Hehir-Kwa1,2, Mireille Claustres3, Ros J Hastings4, Conny van Ravenswaaij-Arts5, Gabrielle Christenhusz6, Maurizio Genuardi7, Béla Melegh8, Anne Cambon-Thomsen9, Philippos Patsalis10, Joris Vermeesch11, Martina C Cornel12, Beverly Searle13, Aarno Palotie14, Ettore Capoluongo15, Borut Peterlin16, Xavier Estivill17,18,19, Peter N Robinson20,21,22.   

Abstract

In 2013, the American College of Medical Genetics (ACMG) examined the issue of incidental findings in whole exome and whole genome sequencing, and introduced recommendations to search for, evaluate and report medically actionable variants in a set of 56 genes. At a debate held during the 2014 European Society for Human Genetics Conference (ESHG) in Milan, Italy, the first author of that paper presented this view in a debate session that did not end with a conclusive vote from the mainly European audience for or against reporting back actionable incidental findings. In this meeting report, we elaborate on the discussions held during a special meeting hosted at the ESHG in 2013 from posing the question 'How to reach a (European) consensus on reporting incidental findings and unclassified variants in diagnostic next generation sequencing'. We ask whether an European consensus exists on the reporting of incidental findings in genome diagnostics, and present a series of key issues that require discussion at both a national and European level in order to develop recommendations for handling incidental findings and unclassified variants in line with the legal and cultural particularities of individual European member states.

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Mesh:

Year:  2015        PMID: 26036857      PMCID: PMC4795187          DOI: 10.1038/ejhg.2015.111

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  32 in total

1.  Call for prudence in whole-genome testing.

Authors:  C G van El; W J Dondorp; G M W R de Wert; M C Cornel
Journal:  Science       Date:  2013-08-30       Impact factor: 47.728

2.  Genomic incidental findings: reducing the burden to be fair.

Authors:  Velizara Anastasova; Alessandro Blasimme; Sophie Julia; Anne Cambon-Thomsen
Journal:  Am J Bioeth       Date:  2013       Impact factor: 11.229

3.  MutationTaster2: mutation prediction for the deep-sequencing age.

Authors:  Jana Marie Schwarz; David N Cooper; Markus Schuelke; Dominik Seelow
Journal:  Nat Methods       Date:  2014-04       Impact factor: 28.547

4.  Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Authors:  Michael O Dorschner; Laura M Amendola; Emily H Turner; Peggy D Robertson; Brian H Shirts; Carlos J Gallego; Robin L Bennett; Kelly L Jones; Mari J Tokita; James T Bennett; Jerry H Kim; Elisabeth A Rosenthal; Daniel S Kim; Holly K Tabor; Michael J Bamshad; Arno G Motulsky; C Ronald Scott; Colin C Pritchard; Tom Walsh; Wylie Burke; Wendy H Raskind; Peter Byers; Fuki M Hisama; Deborah A Nickerson; Gail P Jarvik
Journal:  Am J Hum Genet       Date:  2013-09-19       Impact factor: 11.025

5.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:  Anita Rauch; Dagmar Wieczorek; Elisabeth Graf; Thomas Wieland; Sabine Endele; Thomas Schwarzmayr; Beate Albrecht; Deborah Bartholdi; Jasmin Beygo; Nataliya Di Donato; Andreas Dufke; Kirsten Cremer; Maja Hempel; Denise Horn; Juliane Hoyer; Pascal Joset; Albrecht Röpke; Ute Moog; Angelika Riess; Christian T Thiel; Andreas Tzschach; Antje Wiesener; Eva Wohlleber; Christiane Zweier; Arif B Ekici; Alexander M Zink; Andreas Rump; Christa Meisinger; Harald Grallert; Heinrich Sticht; Annette Schenck; Hartmut Engels; Gudrun Rappold; Evelin Schröck; Peter Wieacker; Olaf Riess; Thomas Meitinger; André Reis; Tim M Strom
Journal:  Lancet       Date:  2012-09-27       Impact factor: 79.321

6.  Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

Authors:  Tomasz Zemojtel; Sebastian Köhler; Luisa Mackenroth; Marten Jäger; Jochen Hecht; Peter Krawitz; Luitgard Graul-Neumann; Sandra Doelken; Nadja Ehmke; Malte Spielmann; Nancy Christine Oien; Michal R Schweiger; Ulrike Krüger; Götz Frommer; Björn Fischer; Uwe Kornak; Ricarda Flöttmann; Amin Ardeshirdavani; Yves Moreau; Suzanna E Lewis; Melissa Haendel; Damian Smedley; Denise Horn; Stefan Mundlos; Peter N Robinson
Journal:  Sci Transl Med       Date:  2014-09-03       Impact factor: 17.956

7.  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

8.  Incidental findings in clinical genomics: a clarification.

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

9.  Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.

Authors:  Sharon E Plon; Diana M Eccles; Douglas Easton; William D Foulkes; Maurizio Genuardi; Marc S Greenblatt; Frans B L Hogervorst; Nicoline Hoogerbrugge; Amanda B Spurdle; Sean V Tavtigian
Journal:  Hum Mutat       Date:  2008-11       Impact factor: 4.878

10.  Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Authors:  Bryony A Thompson; Amanda B Spurdle; John-Paul Plazzer; Marc S Greenblatt; Kiwamu Akagi; Fahd Al-Mulla; Bharati Bapat; Inge Bernstein; Gabriel Capellá; Johan T den Dunnen; Desiree du Sart; Aurelie Fabre; Michael P Farrell; Susan M Farrington; Ian M Frayling; Thierry Frebourg; David E Goldgar; Christopher D Heinen; Elke Holinski-Feder; Maija Kohonen-Corish; Kristina Lagerstedt Robinson; Suet Yi Leung; Alexandra Martins; Pal Moller; Monika Morak; Minna Nystrom; Paivi Peltomaki; Marta Pineda; Ming Qi; Rajkumar Ramesar; Lene Juel Rasmussen; Brigitte Royer-Pokora; Rodney J Scott; Rolf Sijmons; Sean V Tavtigian; Carli M Tops; Thomas Weber; Juul Wijnen; Michael O Woods; Finlay Macrae; Maurizio Genuardi
Journal:  Nat Genet       Date:  2013-12-22       Impact factor: 38.330

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  30 in total

Review 1.  [Genetic testing to prevent sudden cardiac death].

Authors:  B Stallmeyer; S Dittmann; E Schulze-Bahr
Journal:  Internist (Berl)       Date:  2018-08       Impact factor: 0.743

2.  Incidental or secondary findings: an integrative and patient-inclusive approach to the current debate.

Authors:  Marlies Saelaert; Heidi Mertes; Elfride De Baere; Ignaas Devisch
Journal:  Eur J Hum Genet       Date:  2018-07-03       Impact factor: 4.246

Review 3.  The ins and outs of molecular pathology reporting.

Authors:  Véronique Tack; Kelly Dufraing; Zandra C Deans; Han J van Krieken; Elisabeth M C Dequeker
Journal:  Virchows Arch       Date:  2017-03-26       Impact factor: 4.064

Review 4.  Towards a Universal Molecular Microbiological Test.

Authors:  Richard J N Allcock; Amy V Jennison; David Warrilow
Journal:  J Clin Microbiol       Date:  2017-08-23       Impact factor: 5.948

5.  Perceptions of legislation relating to the sharing of genomic biobank results with donors-a survey of BBMRI-ERIC biobanks.

Authors:  Minna Brunfeldt; Harriet Teare; Sirpa Soini; Helena Kääriäinen
Journal:  Eur J Hum Genet       Date:  2018-01-12       Impact factor: 4.246

6.  Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE.

Authors:  Guido De Wert; Björn Heindryckx; Guido Pennings; Angus Clarke; Ursula Eichenlaub-Ritter; Carla G van El; Francesca Forzano; Mariëtte Goddijn; Heidi C Howard; Dragica Radojkovic; Emmanuelle Rial-Sebbag; Wybo Dondorp; Basil C Tarlatzis; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2018-01-12       Impact factor: 4.246

Review 7.  Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.

Authors:  Sheila Riazi; Natalia Kraeva; Philip M Hopkins
Journal:  Anesthesiology       Date:  2018-01       Impact factor: 7.892

8.  Early somatic mosaicism is a rare cause of long-QT syndrome.

Authors:  James Rush Priest; Charles Gawad; Kristopher M Kahlig; Joseph K Yu; Thomas O'Hara; Patrick M Boyle; Sridharan Rajamani; Michael J Clark; Sarah T K Garcia; Scott Ceresnak; Jason Harris; Sean Boyle; Frederick E Dewey; Lindsey Malloy-Walton; Kyla Dunn; Megan Grove; Marco V Perez; Norma F Neff; Richard Chen; Katsuhide Maeda; Anne Dubin; Luiz Belardinelli; John West; Christian Antolik; Daniela Macaya; Thomas Quertermous; Natalia A Trayanova; Stephen R Quake; Euan A Ashley
Journal:  Proc Natl Acad Sci U S A       Date:  2016-09-28       Impact factor: 11.205

9.  Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Authors:  Pascal Pujol; Pierre Vande Perre; Laurence Faivre; Damien Sanlaville; Carole Corsini; Bernard Baertschi; Michèle Anahory; Dominique Vaur; Sylviane Olschwang; Nadem Soufir; Noëlle Bastide; Sarah Amar; Michèle Vintraud; Olivier Ingster; Stéphane Richard; Pierre Le Coz; Jean-Philippe Spano; Olivier Caron; Pascal Hammel; Elisabeth Luporsi; Alain Toledano; Xavier Rebillard; Anne Cambon-Thomsen; Olivier Putois; Jean-Marc Rey; Christian Hervé; Caroline Zorn; Karen Baudry; Virginie Galibert; Joseph Gligorov; David Azria; Brigitte Bressac-de Paillerets; Nelly Burnichon; Marc Spielmann; Daniel Zarca; Isabelle Coupier; Olivier Cussenot; Anne-Paule Gimenez-Roqueplo; Sophie Giraud; Anne-Sophie Lapointe; Patricia Niccoli; Isabelle Raingeard; Muriel Le Bidan; Thierry Frebourg; Arash Rafii; David Geneviève
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

10.  Barriers to clinical adoption of next-generation sequencing: a policy Delphi panel's solutions.

Authors:  Donna A Messner; Pei Koay; Jennifer Al Naber; Robert Cook-Deegan; Mary Majumder; Gail Javitt; Rachel Dvoskin; Juli Bollinger; Margaret Curnutte; Amy L McGuire
Journal:  Per Med       Date:  2017-06-23       Impact factor: 2.512

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