Dataset Information

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

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.

SUBMITTER: Chassagne A

PROVIDER: S-EPMC6461801 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Chassagne Aline A Pélissier Aurore A Houdayer Françoise F Cretin Elodie E Gautier Elodie E Salvi Dominique D Kidri Sarah S Godard Aurélie A Thauvin-Robinet Christel C Masurel Alice A Lehalle Daphné D Jean-Marçais Nolwenn N Thevenon Julien J Lesca Gaetan G Putoux Audrey A Cordier Marie-Pierre MP Dupuis-Girod Sophie S Till Marianne M Duffourd Yannis Y Rivière Jean-Baptiste JB Joly Lorraine L Juif Christine C Putois Olivier O Ancet Pierre P Lapointe Anne-Sophie AS Morin Paulette P Edery Patrick P Rossi Massimiliano M Sanlaville Damien D Béjean Sophie S Peyron Christine C Faivre Laurence L

European journal of human genetics : EJHG 20190201 5

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 eti ...[more]

PMID: 30710147

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Project description:ImportanceClinical exome sequencing (CES) is rapidly becoming a common molecular diagnostic test for individuals with rare genetic disorders.ObjectiveTo report on initial clinical indications for CES referrals and molecular diagnostic rates for different indications and for different test types.Design, setting, and participantsClinical exome sequencing was performed on 814 consecutive patients with undiagnosed, suspected genetic conditions at the University of California, Los Angeles, Clinical Genomics Center between January 2012 and August 2014. Clinical exome sequencing was conducted as trio-CES (both parents and their affected child sequenced simultaneously) to effectively detect de novo and compound heterozygous variants or as proband-CES (only the affected individual sequenced) when parental samples were not available.Main outcomes and measuresClinical indications for CES requests, molecular diagnostic rates of CES overall and for phenotypic subgroups, and differences in molecular diagnostic rates between trio-CES and proband-CES.ResultsOf the 814 cases, the overall molecular diagnosis rate was 26% (213 of 814; 95% CI, 23%-29%). The molecular diagnosis rate for trio-CES was 31% (127 of 410 cases; 95% CI, 27%-36%) and 22% (74 of 338 cases; 95% CI, 18%-27%) for proband-CES. In cases of developmental delay in children (<5 years, n = 138), the molecular diagnosis rate was 41% (45 of 109; 95% CI, 32%-51%) for trio-CES cases and 9% (2 of 23, 95% CI, 1%-28%) for proband-CES cases. The significantly higher diagnostic yield (P value = .002; odds ratio, 7.4 [95% CI, 1.6-33.1]) of trio-CES was due to the identification of de novo and compound heterozygous variants.Conclusions and relevanceIn this sample of patients with undiagnosed, suspected genetic conditions, trio-CES was associated with higher molecular diagnostic yield than proband-CES or traditional molecular diagnostic methods. Additional studies designed to validate these findings and to explore the effect of this approach on clinical and economic outcomes are warranted.

Project description:This study aimed to explore the preferences, experiences and restraint practices of Australian parents travelling with their children in rideshare vehicles. Six hundred and thirty-one participants completed an online survey (M = 39.2 years, SD = 10.5, Range = 18.0-70.0 years; Female: 63.4%). Most participants (59.1%) reported that they had not travelled in a rideshare vehicle with their youngest child (M = 7.2 years, SD = 5.2, Range = 0.0-17.0 years; Male: 54.2%). Participants who reported that they have travelled with their youngest child in a rideshare vehicle tended to: be younger, identify as male, have completed an Undergraduate or Postgraduate degree, reside in the Australian Capital Territory, earning a higher yearly household income, and were involved in an at-fault crash in the past two years. In addition, these participants were: less likely to have a 'younger' youngest child, less likely to 'always' wear a seatbelt while travelling in their private motor vehicle, and also less likely to 'always' restrain their child in an appropriate restraint while travelling in their private motor vehicle. Prohibitive reasons for not travelling in a rideshare vehicle included: cost (29.3%), concerns over driver safety (27.5%), concerns over travelling with children in a rideshare service (24.8%), or inconvenience (24.3%). Participants who reported that they had travelled in a rideshare vehicle with their youngest child reported lower rates of appropriate restraint use within the rideshare vehicle (57.3%) than when travelling in their private motor vehicle (85.6%). Reasons associated with inappropriate restraint use within the rideshare vehicle included: unavailability of a child restraint (39.6%), travelling a short distance (33.0%), were not required to use one in this situation (33.0%), or the parent did not have a restraint with them (26.4%). Given the increasing popularity of rideshare services in Australia, and globally, the urgent adaption of rideshare-specific policy, legislation, education, and design in relation to child restraint requirements is needed to ensure the safety of child occupants.

Dataset Information

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

Publications

Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study).

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