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Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives
Author(s) -
QuinlanJones Elizabeth,
Kilby Mark D.,
Greenfield Sheila,
Parker Michael,
McMullan Dominic,
Hurles Matthew E.,
Hillman Sarah C.
Publication year - 2016
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4916
Subject(s) - thematic analysis , exome sequencing , reinterpretation , feeling , focus group , psychology , informed consent , medicine , genetic counseling , qualitative research , family medicine , social psychology , alternative medicine , genetics , pathology , mutation , social science , physics , marketing , sociology , biology , acoustics , business , gene
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. © 2016 John Wiley & Sons, Ltd.