Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
27 May 2024
27 May 2024
Historique:
received:
13
11
2023
accepted:
17
04
2024
revised:
01
03
2024
medline:
28
5
2024
pubmed:
28
5
2024
entrez:
27
5
2024
Statut:
aheadofprint
Résumé
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26). Three groups of actionable SF were rendered: predisposition to late-onset actionable diseases; genetic counseling; pharmacogenomics. Participants expressed strong interest in obtaining SF and a high satisfaction level when a SF is reported. The medical actionability of the SF reinforced parents' sense of taking action for their child and was seen as an opportunity. While we observed no serious psychological concerns, we showed that these results could have psychological consequences, in particular for late-onset actionable diseases SF, within families already dealing with rare diseases. This study shows that participants remain in favor of accessing SF despite the potential psychological, care, and lifestyle impacts, which are difficult to anticipate. The establishment of a management protocol, including the support of a multidisciplinary team, would be necessary if national policy allows the reporting of these data.
Identifiants
pubmed: 38802530
doi: 10.1038/s41431-024-01616-9
pii: 10.1038/s41431-024-01616-9
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Organisme : Direction Générale de l'offre de Soins (DGOS)
ID : PREPS 16-338
Informations de copyright
© 2024. The Author(s).
Références
Bruel AL, Vitobello A, Tran Mau-Them F, Nambot S, Sorlin A, Denommé-Pichon AS, et al. Next-generation seqauencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability. Clin Genet. 2020;98:433–44.
doi: 10.1111/cge.13764
pubmed: 32335911
Green RC, Berg JS, Grody WW, Kalia SS, Korf BR, Martin CL, et al. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med. 2013;15:565–74.
doi: 10.1038/gim.2013.73
pubmed: 23788249
pmcid: 3727274
Biesecker LG. ACMG secondary findings 2.0. Genet Med. 2017;19:604.
doi: 10.1038/gim.2017.27
pubmed: 28406490
Miller DT, Lee K, Gordon AS, Amendola LM, Adelman K, Bale SJ, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021;23:1391–8.
doi: 10.1038/s41436-021-01171-4
pubmed: 34012069
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med J Am Coll Med Genet. 2022;24:1407–14.
Miller DT, Lee K, Abul-Husn NS, Amendola LM, Brothers K, Chung WK, et al. ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25:100866.
doi: 10.1016/j.gim.2023.100866
pubmed: 37347242
Van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, et al. Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics. Eur J Hum Genet. 2013;21:580–4.
doi: 10.1038/ejhg.2013.46
pubmed: 23676617
pmcid: 3658192
Matthijs G, Souche E, Alders M, Corveleyn A, Eck S, Feenstra I, et al. Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet. 2016;24:2–5.
doi: 10.1038/ejhg.2015.226
pubmed: 26508566
Boycott K, Hartley T, Adam S, Bernier F, Chong K, Fernandez BA, et al. The clinical application of genome-wide sequencing for monogenic diseases in Canada: position statement of the Canadian College of Medical Geneticists. J Med Genet. 2015;52:431–7.
doi: 10.1136/jmedgenet-2015-103144
pubmed: 25951830
de Wert G, Dondorp W, Clarke A, Dequeker EMC, Cordier C, Deans Z, et al. Opportunistic genomic screening. Recommendations of the European Society of Human Genetics. Eur J Hum Genet EJHG. 2021;29:365–77.
doi: 10.1038/s41431-020-00758-w
pubmed: 33223530
Chassagne A, Pélissier A, Houdayer F, Cretin E, Gautier E, Salvi D, et al. Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study). Eur J Hum Genet. 2019;27:701–10.
doi: 10.1038/s41431-018-0332-y
pubmed: 30710147
pmcid: 6461801
Peyron C, Pélissier A, Krucien N. Préférences de la population française pour l’accès à l’information génétique: une étude de choix discrets/Preferences of the French population regarding access to genetic information: a discrete choice experiment. Econ Stat. 2021;524:67–86.
Peyron C, Pélissier A, Béjean S. Preference heterogeneity with respect to whole genome sequencing. A discrete choice experiment among parents of children with rare genetic diseases. Soc Sci Med. 2018;214:125–32.
doi: 10.1016/j.socscimed.2018.08.015
pubmed: 30179780
Pélissier A, Peyron C, Béjean S. Next-generation sequencing in clinical practice: from the patients’ preferences to the informed consent process. Public Health. 2016;138:157–9.
doi: 10.1016/j.puhe.2016.03.011
pubmed: 27112378
Delanne J, Nambot S, Chassagne A, Putois O, Pelissier A, Peyron C, et al. Secondary findings from whole-exome/genome sequencing evaluating stakeholder perspectives. A review of the literature. Eur J Med Genet. 2019;62:103529.
doi: 10.1016/j.ejmg.2018.08.010
pubmed: 30165243
Mackley MP, Fletcher B, Parker M, Watkins H, Ormondroyd E. Stakeholder views on secondary findings in whole-genome and whole-exome sequencing: a systematic review of quantitative and qualitative studies. Genet Med. 2017;19:283–93.
doi: 10.1038/gim.2016.109
pubmed: 27584911
Sapp JC, Facio FM, Cooper D, Lewis KL, Modlin E, van der Wees P, et al. A systematic literature review of disclosure practices and reported outcomes for medically-actionable genomic secondary findings. Genet Med J Am Coll Med Genet. 2021;23:2260–9.
Agence de la Biomédecine. Projet de recommandations de bonnes pratiques professionnelles en matière de gestion des résultats d’un examen de séquençage pangénomique sans relation directe avec l’indication initiale dans le cadre du soin [Internet]. 2020 [cité 13 juill 2022]. Disponible sur: https://www.agence-biomedecine.fr/IMG/pdf/20200107_rbp_donnees_additionnelles_dv.pdf
Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel AL, et al. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests. Eur J Hum Genet. 2019;27:1197–214.
doi: 10.1038/s41431-019-0384-7
pubmed: 31019283
pmcid: 6777608
Dorschner MO, Amendola LM, Turner EH, Robertson PD, Shirts BH, Gallego CJ, et al. Actionable, pathogenic incidental findings in 1,000 participants’ exomes. Am J Hum Genet. 2013;93:631–40.
doi: 10.1016/j.ajhg.2013.08.006
pubmed: 24055113
pmcid: 3791261
Spielberger CD, Bruchon-Schweitzer M, Paulhan I. STAI-Y: Inventaire d’anxiété état-trait forme Y. Paris, France: Éditions du centre de psychologie appliquée, 1993). p. 68.
Morin AJ, Moullec G, Maïano C, Layet L, Just JL, Ninot G. Psychometric properties of the Center for Epidemiologic Studies Depression Scale (CES-D) in French clinical and nonclinical adults. Rev Epidemiol Sante Publique. 2011;59:327–40.
doi: 10.1016/j.respe.2011.03.061
pubmed: 21925817
Gandek B, Ware JE, Aaronson NK, Apolone G, Bjorner JB, Brazier JE, et al. Cross-Validation of Item Selection and Scoring for the SF-12 Health Survey in Nine Countries: Results from the IQOLA Project. J Clin Epidemiol. 1998;51:1171–8.
doi: 10.1016/S0895-4356(98)00109-7
pubmed: 9817135
Gargiulo M. Psychopathologie de la temporalité: médecine prédictive, psychologie de l’anticipation. Etude sur la qualité de vie d’une population à risque pour la maladie de Huntington. [Paris 7]; (1999).
LOI n° 2021-1017 du 2 août 2021 relative à la bioéthique (1). 2021-1017 août 2, 2021.
Laviolle B, Perche O, Gueyffier F, les participants à la table ronde « Recherche translationnelle » des Ateliers de Giens XXXIV. Apport de la génomique dans la médecine de demain, applications cliniques et enjeux. Therapie. 2019;74:1–8.
doi: 10.1016/j.therap.2018.11.011
pubmed: 30616902
Brothers KB, Vassy JL, Green RC. Reconciling opportunistic and population screening in clinical genomics. Mayo Clin Proc. 2019;94:103–9.
doi: 10.1016/j.mayocp.2018.08.028
pubmed: 30611438
Schoot Vvander, Viellevoije SJ, Tammer F, Brunner HG, Arens Y, Yntema HG, et al. The impact of unsolicited findings in clinical exome sequencing, a qualitative interview study. Eur J Hum Genet. 2021;29:930–9.
doi: 10.1038/s41431-021-00834-9
pubmed: 33637888
pmcid: 8187681
Hart MR, Biesecker BB, Blout CL, Christensen KD, Amendola LM, Bergstrom KL, et al. Secondary findings from clinical genomic sequencing: Prevalence, patient perspectives, family history assessment, and healthcare costs from a multi-site study. Genet Med J Am Coll Med Genet. 2019;21:1100–10.
Sapp JC, Johnston JJ, Driscoll K, Heidlebaugh AR, Miren Sagardia A, Dogbe DN, et al. Evaluation of recipients of positive and negative secondary findings evaluations in a hybrid CLIA-research sequencing pilot. Am J Hum Genet. 2018;103:358–66.
doi: 10.1016/j.ajhg.2018.07.018
pubmed: 30122538
pmcid: 6128311
Wynn J, Martinez J, Bulafka J, Duong J, Zhang Y, Chiuzan C, et al. Impact of receiving secondary results from genomic research: a 12-month longitudinal study. J Genet Couns. 2018;27:709–22.
doi: 10.1007/s10897-017-0172-x
pubmed: 29168042
Ormondroyd E, Harper A, Thomson K, Mackley MP, Martin JM, Penkett C, et al. Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes. Eur J Hum Genet. 2020;28:1486–96.
doi: 10.1038/s41431-020-0694-9
pubmed: 32686758
pmcid: 7576165
Cheung F, Birch P, Friedman JM, Study C, Study G, Elliott AM, et al. The long-term impact of receiving incidental findings on parents undergoing genome-wide sequencing. J Genet Couns. 2022;31:887–900.
doi: 10.1002/jgc4.1558
pubmed: 35128755
Mitchell LA, Jivani K, Young MA, Jacobs C, Willis AM. Systematic review of the uptake and outcomes from returning secondary findings to adult participants in research genomic testing. J Genet Couns. 2024 Jan 10. https://doi.org/10.1002/jgc4.1865 . Epub ahead of print. PMID: 38197527.
Bordet C, Brice S, Maupain C, Gandjbakhch E, Isidor B, Palmyre A, et al. Psychosocial impact of predictive genetic testing in hereditary heart diseases: the PREDICT study. J Clin Med. 2020;9:1365.
doi: 10.3390/jcm9051365
pubmed: 32384747
pmcid: 7290753
Gargiulo M, Lejeune S, Tanguy ML, Lahlou-Laforêt K, Faudet A, Cohen D, et al. Long-term outcome of presymptomatic testing in Huntington disease. Eur J Hum Genet. 2009;17:165–71.
doi: 10.1038/ejhg.2008.146
pubmed: 18716614
Feinberg J. The child’s right to an open future. In: Whose Child? Children’s rights, parental authority, and state power. Literature in Bioethics. Rowman & Littlefield; 1980. p. 124–53.
Richer J, Laberge AM. Secondary findings from next-generation sequencing: what does actionable in childhood really mean? Genet Med 2019;21:124–32.
doi: 10.1038/s41436-018-0034-4
pubmed: 29875419
Binquet C, Lejeune C, Faivre L, Bouctot M, Asensio ML, Simon A, et al. Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study. Front Genet [Internet]. [cité 28 avr 2022];12. https://doi.org/10.3389/fgene.2021.766964 (2022).
Grubs RE, Parker LS, Hamilton R. Subtle psychosocial sequelae of genetic test results. Curr Genet Med Rep. 2014;2:242–9.
doi: 10.1007/s40142-014-0053-7
Sass C, Moulin JJ, Guéguen R, Abric L, Dauphinot V, Dupré C, et al. Le score Epices: un score individuel de précarité. Construction du score et mesure des relations avec des données de santé, dans une population de 197 389 personnes. BEH 2006;14:93–6.
Fuhrer R, Rouillon F. La version française de l’échelle CES-D (Center for epidemiologic studies depression scale). Description et traduction de l’échelle d’autoévaluation. Psychiatr Psychobiol. 1989;4:163–6.
van der Schoot V, Haer-Wigman L, Feenstra I, Tammer F, Oerlemans AJM, van Koolwijk MPA, et al. Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals. Eur J Hum Genet. 2022;30:170–7.