ArticleEuropean journal of human genetics : EJHG2019
Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).
Article in European journal of human genetics : EJHG, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02814747 (Preferences and Representations Concerning High-throughput Sequencing Technologies in Medical Genetics. The Case of Development Anomalies.), which is not on this map. Cited by 18 papers, 2 of them syntheses that pooled it.
What it found
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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.
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.
Preferences and Representations Concerning High-throughput Sequencing Technologies in Medical Genetics. The Case of Development Anomalies.
Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Approaches to Incorporation of Preferences into Health Economic Models of Genomic Medicine: A Critical Interpretive Synthesis and Conceptual Framework.Applied health economics and health policy · 2025Pooled it
- Parents' understanding of genome and exome sequencing for pediatric health conditions: a systematic review.European journal of human genetics : EJHG · 2022Pooled it
- Trial
- Narrative review on ethical and psychological issues raised by genetic and genomic testing in pediatric oncology care.Journal of genetic counseling · 2025Review
- The impact of rare diseases on the quality of life in paediatric patients: current status.Frontiers in public health · 2025Review
- Psychological and ethical issues raised by genomic in paediatric care pathway, a qualitative analysis with parents and childhood cancer patients.European journal of human genetics : EJHG · 2024Article
- A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.Familial cancer · 2024Article
- Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study).European journal of human genetics : EJHG · 2024Article
- Hope, but never expect? Comparing parents' pre- and post-disclosure attitudes toward return of results from diagnostic exome sequencing for their child.Molecular genetics & genomic medicine · 2024Article
- ECOLE: Learning to call copy number variants on whole exome sequencing data.Nature communications · 2024Article
- Parents' Perspectives on Secondary Genetic Ancestry Findings in Pediatric Genomic Medicine.Clinical therapeutics · 2023Article
- Framing the Family: A Qualitative Exploration of Factors That Shape Family-Level Experience of Pediatric Genomic Sequencing.Children (Basel, Switzerland) · 2023Article
- Key drivers of family-level utility of pediatric genomic sequencing: a qualitative analysis to support preference research.European journal of human genetics : EJHG · 2023Article
- Managing Prognosis in Precision Medicine: Utility, Imagination, and Communication.Children (Basel, Switzerland) · 2023Article
- Continuing the sequence? Towards an economic evaluation of whole genome sequencing for the diagnosis of rare diseases in Scotland.Journal of community genetics · 2022Article
- Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Clinical utility of genomic sequencing: a measurement toolkit.NPJ genomic medicine · 2020Review
- Exome Sequencing and Molecular Diagnosis.Deutsches Arzteblatt international · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exome sequencing (ES) has revolutionized diagnostic procedures in medical genetics, particularly for developmental diseases. The variety and complexity of the information produced has raised issues regarding its use in a clinical setting. Of particular interest are patients' expectations regarding the information disclosed, the accompaniment provided, and the value patients place on these. To explore these issues in parents of children with developmental disorders and no diagnosis with known etiology, a multidisciplinary group of researchers from social and behavioral sciences and patient organizations conducted a mixed-methodology study (quantitative and qualitative) in two centers of expertise for rare diseases in France. The quantitative study aimed to determine the preferences of 513 parents regarding the disclosure of ES results. It showed that parents wished to have exhaustive information, including variants of unknown significance possibly linked to their child's disorder and secondary findings. This desire for information could be a strategy to maximize the chances of obtaining a diagnosis. The qualitative study aimed to understand the expectations and reactions of 57 parents interviewed just after the return of ES results. In-depth analysis showed that parents had ambivalent feelings about the findings whatever the results returned. The contrasting results from these studies raise questions about the value of the information provided and parents' high expectations regarding the results. The nature of parental expectations has emerged as an important topic in efforts to optimize accompaniment and support for families during the informed decision-making process and after disclosure of the results in an overall context of uncertainty.
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Registered trials
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