Evidence map›Paper›PMID 38802530›Full record

ArticleEuropean journal of human genetics : EJHG2024

Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).

Eléonore Viora-Dupont, Françoise Robert, Aline Chassagne, Aurore Pélissier, Stéphanie Staraci, Damien Sanlaville, Patrick Edery, Gaetan Lesca, Audrey Putoux, Linda Pons and 40 more

Abstract readMulticenter Study
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed, 1 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

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Genomic technologies identify milder presentations of Mendelian disease.European journal of human genetics : EJHG · 2024
    Article
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

50 authors.

Eléonore Viora-Dupont *FHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. eleonore.viora-dupont@chu-dijon.fr.ORCID 0000-0003-0999-9204
Françoise Robert *Genetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Aline ChassagneFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.
Aurore PélissierFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.
Stéphanie StaraciGenetics Department, Reference Center for Hereditary Cardiac Disorders, GH APHP, Paris, France.
Damien SanlavilleGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Patrick EderyGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Gaetan LescaGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.ORCID 0000-0001-7691-9492
Audrey PutouxGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Linda PonsGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Amandine CadenesGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Amandine BaurandGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.
Caroline SawkaGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.
Geoffrey BertoloneGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.
Myrtille SpetchianGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Meriem YousfiGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.
Dominique SalviLaboratory of economy (LEDi), University of Burgundy, Dijon, France.
Elodie GautierGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.
Antonio VitobelloFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0003-3717-8374
Anne-Sophie Denommé-PichonFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0002-8986-8222
Ange-Line BruelFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0002-0526-465X
Frédéric Tran Mau-ThemFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0002-3795-9456
Anne FaudetGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Boris KerenGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Audrey LabalmeGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Nicolas ChatronGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.ORCID 0000-0003-0538-0981
Carine AbelGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.
Sophie Dupuis-GirodGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.ORCID 0000-0002-8834-5526
Alice PoissonReference Center for Rare Disorders with psychiatric expression C.H. Le Vinatier, Bron, France.
Julien BurattiGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.ORCID 0000-0002-0901-0905
Cyril MignotGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Alexandra AfenjarGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Sandra WhalenGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Perrine CharlesGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Solveig HeideGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Linda MouthonGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Sébastien MouttonGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.ORCID 0000-0002-8942-6731
Arthur SorlinGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.ORCID 0000-0001-8008-9145
Sophie NambotGenetics Department, Reference Center for Developmental Disorders, University Hospital, Dijon, France.ORCID 0000-0002-9630-5049
Anne-Sophie BriffautFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.
Marie-Laure AsensioCHU Dijon Bourgogne, INSERM, Université de Bourgogne, CIC 1432, Module Épidémiologie Clinique, Dijon, France.
Christophe PhilippeFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0001-7098-6520
Christel Thauvin-RobinetFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0002-4155-139X
Delphine HéronGenetics Department, Reference Center for Developmental Disorders, GH APHP, Paris, France.
Massimiliano RossiGenetics Department, Reference Center for Developmental Disorders, HCL, Bron, France.ORCID 0000-0002-5797-8152
Nicolas Meunier-BellardFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.
Marcela GargiuloClinical Psychology Lab., Psychopathology, Psychoanalysis (EA4056, ED 261), University of Paris, Sorbonne Paris City, Paris, France.
Christine PeyronFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.ORCID 0000-0003-3823-0859
Christine BinquetFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France.
Laurence FaivreFHU TRANSLAD, GAD INSERM UMR 1231, University of Burgundy, Dijon, France. laurence.faivre@chu-dijon.fr.ORCID 0000-0001-9770-444X

Funding

Direction Générale de l'offre de Soins (DGOS) PREPS 16-338
6 · The paper itself

Abstract

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.

Indexed as

Genetic CounselingAdolescentAdultChildChild, PreschoolDevelopmental DisabilitiesExome SequencingFemaleFranceGenetic TestingHumansIncidental FindingsMaleParents

Identifiers

PMID38802530
PMCPMC11368951

What OpenQuestion holds

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Registered trials

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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.