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

doi:10.1002/pd.4916

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 journal › Article › peer-review

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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. © 2016 John Wiley & Sons, Ltd.

Original language	English
Journal	Prenatal Diagnosis
Early online date	18 Sept 2016
DOIs	https://doi.org/10.1002/pd.4916
Publication status	E-pub ahead of print - 18 Sept 2016

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10.1002/pd.4916Licence: None: All rights reserved

QFGs PD manuscript final version clean 09 08 2016
This is the peer reviewed version of the following article: Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives, which has been published in final form at 10.1002/pd.4916. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Self-Archiving.
Accepted author manuscript, 307 KBLicence: Other (please specify with Rights Statement)

Cite this

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

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. {\textcopyright} 2016 John Wiley & Sons, Ltd.",

author = "Elizabeth Quinlan-Jones and Mark Kilby and Sheila Greenfield and Michael Parker and Dominic McMullan and Hurles, {Matthew E} and Hillman, {Sarah C}",

note = "{\textcopyright} 2016 John Wiley & Sons, Ltd.",

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T2 - the views of clinicians, scientists, genetic counsellors and patient representatives

AU - Quinlan-Jones, Elizabeth

AU - Kilby, Mark

AU - Greenfield, Sheila

AU - Parker, Michael

AU - McMullan, Dominic

AU - Hurles, Matthew E

AU - Hillman, Sarah C

PY - 2016/9/18

Y1 - 2016/9/18

N2 - 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.

AB - 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.

U2 - 10.1002/pd.4916

DO - 10.1002/pd.4916

M3 - Article

C2 - 27550507

SN - 0197-3851

JO - Prenatal Diagnosis

JF - Prenatal Diagnosis

ER -

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

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