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

Elizabeth Quinlan-Jones, Mark Kilby, Sheila Greenfield, Michael Parker, Dominic McMullan, Matthew E Hurles, Sarah C Hillman

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)
324 Downloads (Pure)


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.

Original languageEnglish
JournalPrenatal Diagnosis
Early online date18 Sept 2016
Publication statusE-pub ahead of print - 18 Sept 2016


Dive into the research topics of 'Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives'. Together they form a unique fingerprint.

Cite this