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. 2018 Dec;26(12):1732-1742.
doi: 10.1038/s41431-018-0224-1. Epub 2018 Aug 8.

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

Pascal Pujol  1   2 , Pierre Vande Perre  3   4 , Laurence Faivre  5 , Damien Sanlaville  6   7   8 , Carole Corsini  3 , Bernard Baertschi  9   10 , Michèle Anahory  11 , Dominique Vaur  12   13 , Sylviane Olschwang  14   15   16 , Nadem Soufir  17   18 , Noëlle Bastide  19 , Sarah Amar  11 , Michèle Vintraud  20 , Olivier Ingster  21 , Stéphane Richard  22 , Pierre Le Coz  23 , Jean-Philippe Spano  24 , Olivier Caron  25 , Pascal Hammel  26 , Elisabeth Luporsi  27 , Alain Toledano  20 , Xavier Rebillard  28   29 , Anne Cambon-Thomsen  30   31 , Olivier Putois  32 , Jean-Marc Rey  33   34 , Christian Hervé  35 , Caroline Zorn  36 , Karen Baudry  3 , Virginie Galibert  3 , Joseph Gligorov  37 , David Azria  38 , Brigitte Bressac-de Paillerets  39 , Nelly Burnichon  25   34   40   41 , Marc Spielmann  42 , Daniel Zarca  42 , Isabelle Coupier  3   43 , Olivier Cussenot  44   45 , Anne-Paule Gimenez-Roqueplo  25   34   40   41 , Sophie Giraud  34   46 , Anne-Sophie Lapointe  47 , Patricia Niccoli  48 , Isabelle Raingeard  49 , Muriel Le Bidan  50 , Thierry Frebourg  51 , Arash Rafii  52   53 , David Geneviève  54   55
Affiliations

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

Pascal Pujol et al. Eur J Hum Genet. 2018 Dec.

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.

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Conflict of interest statement

The authors declare no conflicts of interest with industry or firms commercializing genetic tests. No industry or corporate sponsors contributed to the development of these recommendations. SFMPP is not funded by industrial or commercial companies but by grants from public institutions and partially self-funded by SFMPP annual congresses. Dr. Pujol discloses attending Advisory Board Membership meetings for AstraZeneca, Pfizer, and Genomic Health.

Figures

Fig. 1
Fig. 1
SFMPP working method. The working method of the Society of Predictive and Personalized Medicine (SFMPP) was adapted from the American College of Medical Genetics and Genomics methodology, to classify the “actionable” cancer-related genes for adults. ClinGen AWG Clinical Genome Resource Actionability Working Group (USA), WGGP Working Group on Gene Phenotype
Fig. 2
Fig. 2
Comparison of the SFMPP and ACMG scoring of actionable cancer-genes. For the SFMPP classification, classes 1, 2, and 3 are in red, black, and blue, respectively. Actionable genes for SFMPP (blue circle) and the ACMG classification (SF v1.0, green circle, and SF v2.0, gray circle) are represented. hmz homozygote
Fig. 3
Fig. 3
Recommended steps for reporting secondary findings to the patient
See this image and copyright information in PMC

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