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Prenatal whole exome sequencing : the views of clinicians, scientists, genetic counsellors and patient representatives

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Quinlan-Jones, Elizabeth, Kilby, Mark D., Greenfield, Sheila, Parker, Michael, McMullan, Dominic, Hurles, Matthew E. and Hillman, Sarah C (2016) Prenatal whole exome sequencing : the views of clinicians, scientists, genetic counsellors and patient representatives. Prenatal Diagnosis, 36 (10). pp. 935-941. doi:10.1002/pd.4916

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Official URL: http://dx.doi.org/10.1002/pd.4916

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Abstract

Objective
Focus groups were conducted with individuals involved in prenatal diagnosis to determine their opinions relating to whole exome sequencing in fetuses with structural anomalies.

Method
Five representatives of patient groups/charities (PRGs) and eight clinical professionals (CPs) participated. Three focus groups occurred (the two groups separately and then combined). Framework analysis was performed to elicit themes. A thematic coding frame was identified based on emerging themes.

Results
Seven main themes (consent, analysis, interpretation/reinterpretation of results, prenatal issues, uncertainty, incidental findings and information access) with subthemes emerged. The main themes were raised by both groups, apart from ‘analysis’, which was raised by CPs only. Some subthemes were raised by PRGs and CPs (with different perspectives). Others were raised either by PRGs or CPs, showing differences in patient/clinician agendas.

Conclusions
Prenatal consent for whole exome sequencing is not a ‘perfect’ process, but consent takers should be fully educated regarding the test. PRGs highlighted issues involving access to results, feeling that women want to know all information. PRGs also felt that patients want reinterpretation of results over time, whilst CPs felt that interpretation should be performed at the point of testing only.

Item Type: Journal Article
Divisions: Faculty of Science, Engineering and Medicine > Medicine > Warwick Medical School
Journal or Publication Title: Prenatal Diagnosis
Publisher: Wiley
ISSN: 0197-3851
Official Date: 16 October 2016
Dates:
DateEvent
16 October 2016Published
23 August 2016Available
15 August 2016Accepted
Volume: 36
Number: 10
Page Range: pp. 935-941
DOI: 10.1002/pd.4916
Status: Peer Reviewed
Publication Status: Published
Access rights to Published version: Restricted or Subscription Access
RIOXX Funder/Project Grant:
Project/Grant IDRIOXX Funder NameFunder ID
HICF–R7‐396Wellcome Trust/Department of Health Innovation Challenge FundUNSPECIFIED

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