Evidence map›Paper›PMID 30089825›Full record

ArticleEuropean journal of human genetics : EJHG2018

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

Pascal Pujol, Pierre Vande Perre, Laurence Faivre, Damien Sanlaville, Carole Corsini, Bernard Baertschi, Michèle Anahory, Dominique Vaur, Sylviane Olschwang, Nadem Soufir and 36 more

Abstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
32citing 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

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

  1. Pooled it
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  6. Severity as a Criterion for Prioritizing Diagnostic Measures.Health care analysis : HCA : journal of health philosophy and policy · 2026
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  12. Evaluation of a two-step model of opportunistic genomic screening.European journal of human genetics : EJHG · 2024
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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

46 authors.

Pascal PujolDepartment of Cancer Genetics, University of Montpellier and University Hospital (CHU), Montpellier, France. p-pujol@chu-montpellier.fr.
Pierre Vande PerreDepartment of Cancer Genetics, University of Montpellier and University Hospital (CHU), Montpellier, France.ORCID http://orcid.org/0000-0001-7595-7243
Laurence FaivreFédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies Du Développement (TRANSLAD), Genomic and Immunotherapy Medical Institute (GIMI), Centre Hospitalier Universitaire Dijon, Centre Georges-Francois Leclerc (CGFL), Dijon, France.
Damien SanlavilleDepartment of Genetics, Lyon University Hospitals, Lyon, France.
Carole CorsiniDepartment of Cancer Genetics, University of Montpellier and University Hospital (CHU), Montpellier, France.
Bernard BaertschiINSERM Ethics Committee, Paris, France.
Michèle AnahoryPech de Laclause, Bathmanabane & Associés Law Firm, Paris, France.
Dominique VaurDepartment of Cancer Biology and Genetics, CLCC François Baclesse, Normandy Centre for Genomic and Personalized Medicine, Caen, France.
Sylviane OlschwangAix Marseille Université, INSERM GMGF UMR S_910, Marseille, France.
Nadem SoufirDepartment of Genetics, Bichat Hospital, Paris, France.
Noëlle BastideBRCA France Association, Montpellier, France.
Sarah AmarPech de Laclause, Bathmanabane & Associés Law Firm, Paris, France.
Michèle VintraudDepartment of Radiotherapy, Hartmann Radiotherapy Center, Levallois-Perret, France.
Olivier IngsterService de Génétique, CHU Angers, Angers, France.
Stéphane RichardEcole Pratique des Hautes Etudes, PSL Research University; Réseau National pour Cancers Rares de l'Adulte PREDIR labellisé par l'INCa, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, et Faculté de Médecine Paris-Sud, Le Kremlin-Bicêtre, France.
Pierre Le CozUMR 7268-ADÉS, Faculté de Médecine de Marseille, Aix-Marseille Université-EFS-CNRS, Marseille, France.
Jean-Philippe SpanoOncology, Hopital Pitie-Salpetriere, Paris, France.
Olivier CaronAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France.
Pascal HammelDepartment of Digestive Oncology, Beaujon University Hospital, AP-HP and University Paris 7 - Denis Diderot, Clichy, France.
Elisabeth LuporsiInstitut de Cancérologie de Lorraine Alexis Vautrin, Nancy, France.
Alain ToledanoDepartment of Radiotherapy, Hartmann Radiotherapy Center, Levallois-Perret, France.
Xavier RebillardClinique Beau Soleil, EA2415, Association française d'urologie, Montpellier, France.
Anne Cambon-ThomsenUMR 1027, Inserm, Université Toulouse III-Paul Sabatier, Toulouse, France.ORCID http://orcid.org/0000-0001-8793-3644
Olivier PutoisSuLiSoM EA 3071, Department of Psychology, Strasbourg University, France; Department of Psychiatry, Mental Health and Addictology, Strasbourg University Hospital, Strasbourg, France.
Jean-Marc ReyLaboratoire de Biopathologie Cellulaire et Tissulaire des Tumeurs, CHU Montpellier, Montpellier, France.
Christian HervéLaboratoire d'Ethique Médicale et Médecine Légale EA4569, Faculté de Médecine, Université Paris Descartes, Paris, France.
Caroline ZornZorn & Associés Law Firm, Strasbourg, France.
Karen BaudryDepartment of Cancer Genetics, University of Montpellier and University Hospital (CHU), Montpellier, France.
Virginie GalibertDepartment of Cancer Genetics, University of Montpellier and University Hospital (CHU), Montpellier, France.
Joseph GligorovAPHP, INSERM U938, IUC-UPMC, Sorbonne Université, Paris, France.
David AzriaDepartment of Radiation Oncology, Montpellier Cancer Institute (ICM), Univ. Montpellier, IRCM, INSERM U1194, Montpellier, France.
Brigitte Bressac-de PailleretsGustave Roussy, Université Paris-Saclay, Département de Biopathologie et INSERM U1186, Villejuif, F-94805, France.
Nelly BurnichonAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France.
Marc SpielmannInstitut Français du Sein, 15 rue Jean Nicot, 75007, Paris, France.
Daniel ZarcaInstitut Français du Sein, 15 rue Jean Nicot, 75007, Paris, France.
Isabelle CoupierDepartment of Cancer Genetics, University of Montpellier and University Hospital (CHU), Montpellier, France.
Olivier CussenotDepartment of Urology, Tenon Academic Hospital, Assistance Publique-Hôpitaux de Paris, Pierre et Marie Curie Medical School, Sorbonne Universités, Paris, France.
Anne-Paule Gimenez-RoqueploAssistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Génétique, Paris, France.
Sophie GiraudRéseau TenGen, Paris, France.
Anne-Sophie LapointeEthique médicale - EA 4569 - Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Coordination Associations Filières de Santé AnDDI-Rares, VML (Vaincre les Maladies Lysosomales) Association, Paris, France.
Patricia NiccoliDépartement d'Oncologie Médicale, Institut Paoli-Calmettes, 232 bd de Sainte Marguerite 13273 cdx 09 Marseille, France.
Isabelle RaingeardCHU Montpellier Service d'Endocrinologie, Diabète, Maladies métaboliques, Montpellier, France.
Muriel Le BidanPolyposes Familiales - aptepf Association, Linas, France.
Thierry FrebourgDepartment of Genetics, Rouen University Hospital, Normandy Centre for Genomic and Personalized Medicine, Rouen, France.
Arash RafiiDepartment of Genetic Medicine, Weill-Cornell Medical College, New York, USA.
David GenevièveUniversité de Montpellier, Montpellier, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society of Predictive and Personalized Medicine (SFMPP) established a working group of 47 experts to elaborate guidelines for managing information given on the SFs for genes related to cancers. A subgroup of ethicists, lawyers, patients' representatives, and psychologists provided ethical reflection, information guidelines, and materials (written consent form and video). A subgroup with medical expertise, including oncologists and clinical and molecular geneticists, provided independent evaluation and classification of 60 genes. The main criteria were the "actionability" of the genes (available screening or prevention strategies), the risk evaluation (severity, penetrance, and age of disease onset), and the level of evidence from published data. Genes were divided into three classes: for class 1 genes (n = 36), delivering the information on SFs was recommended; for class 2 genes (n = 5), delivering the information remained questionable because of insufficient data from the literature and/or level of evidence; and for class 3 genes (n = 19), delivering the information on SFs was not recommended. These guidelines for managing SFs for cancer-predisposing genes provide new insights for clinicians and laboratories to standardize clinical practices.

Indexed as

Practice Guidelines as TopicDisclosureFranceGenetic TestingHumansNeoplasmsPrecision MedicineSequence Analysis, DNASocieties, Medical

Identifiers

PMID30089825
PMCPMC6244405

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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.