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.
  
  
  METHODS
  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.
authors.affiliation: Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Quinlan-Jones
authors.affiliation: Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK. M.D.Kilby@Bham.ac.uk.|Birmingham Centre for Women's and New-born Health, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. M.D.Kilby@Bham.ac.uk.|Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK. M.D.Kilby@Bham.ac.uk.
authors.forename: Mark D
authors.initials: MD
authors.lastname: Kilby
authors.affiliation: Institute of Applied Health Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
authors.forename: Sheila
authors.initials: S
authors.lastname: Greenfield
authors.affiliation: The Ethox Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK.
authors.forename: Michael
authors.initials: M
authors.lastname: Parker
authors.affiliation: West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Birmingham, UK.
authors.forename: Dominic
authors.initials: D
authors.lastname: McMullan
authors.affiliation: Wellcome Trust Sanger Institute, Cambridge, UK.
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
authors.affiliation: Fetal Medicine Centre, Birmingham Women's NHS Foundation Trust, Birmingham, UK.|Institute of Metabolism and Systems Research, College of Medical and Dental Sciences, University of Birmingham, Birmingham, UK.
authors.forename: Sarah C
authors.initials: SC
authors.lastname: Hillman
mesh_terms: D001291:Attitude of Health Personnel; D001294:Attitude to Health; D059472:Exome; D005260:Female; D017144:Focus Groups; D005817:Genetic Counseling; D005820:Genetic Testing; D005826:Genetics, Medical; D006801:Humans; D033162:Incidental Findings; D007258:Informed Consent; D008297:Male; D009774:Obstetrics; D010820:Physicians; D011296:Prenatal Diagnosis; D036301:Qualitative Research; D017422:Sequence Analysis, DNA; D013997:Time Factors; D035501:Uncertainty; D006113:United Kingdom