Evidence map›Paper›PMID 26036857›Full record

ArticleEuropean journal of human genetics : EJHG2015

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

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 and 7 more

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
40citing papers in PubMed, 2 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

40 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
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  11. Analysis of laboratory reporting practices using a quality assessment of a virtual patient.Genetics in medicine : official journal of the American College of Medical Genetics · 2021
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  19. Secondary findings from next-generation sequencing: what does actionable in childhood really mean?Genetics in medicine : official journal of the American College of Medical Genetics · 2019
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors.

Jayne Y Hehir-KwaDepartment of Human Genetics, Radboud UMC, Nijmegen, The Netherlands.
Mireille ClaustresDepartment of Molecular Genetics, IURC (Institut Universitaire de Recherche Clinique), Montpellier, France.
Ros J HastingsCEQAS, Women's Centre, John Radcliffe Hospital, Oxford University Hospitals NHS Trust, Oxford, England.
Conny van Ravenswaaij-ArtsUniversity of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.
Gabrielle ChristenhuszCentre for Biomedical Ethics and Law, University of Leuven, Leuven, Belgium.
Maurizio GenuardiInstitute of Medical Genetics, 'A. Gemelli' School of Medicine, Catholic University of the Sacred Heart, Rome, Italy.ORCID http://orcid.org/0000-0002-7410-8351
Béla MeleghDepartment of Medical Genetics, University of Pécs, Pécs, Hungary.
Anne Cambon-ThomsenInstitut national de la santé et de la recherche médicale and Université Toulouse III-Paul Sabatier joint Unit 1027, Faculty of Medicine, Toulouse, France.ORCID http://orcid.org/0000-0001-8793-3644
Philippos PatsalisTranslational Genetics Team, The Cyprus Institute of Neurology & Genetics, Cyprus School of Molecular Medicine, Nicosia, Cyprus.
Joris VermeeschCentre for Human Genetics, University Hospital Leuven, Department of Human Genetics, KU Leuven, Leuven, Belgium.
Martina C CornelClinical Genetics & EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
Beverly SearleUnique (Rare Chromosome Disorder Support Group), Oxted, England.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
Ettore CapoluongoSIBioC Clinical Molecular Diagnostic Training School, Istituto di Biochimica Clinica, Università Cattolica del S. Cuore, Rome, Italy.
Borut PeterlinDepartment of Obstetrics and Gynecology, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Xavier EstivillCenter for Genomic Regulation (CRG), Barcelona, Spain.
Peter N RobinsonInstitut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin, Berlin, Germany.ORCID http://orcid.org/0000-0002-0736-9199

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Consensus Statements as TopicEuropean UnionHigh-Throughput Nucleotide SequencingIncidental FindingsSequence Analysis, DNA

Identifiers

PMID26036857
PMCPMC4795187

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.