Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs.
As whole exome sequencing (WES) is just starting to be used as a diagnostic tool in paediatric neurology for children with a neurological disorder, and patient experiences and preferences with regard to counselling are relatively underexplored. This article explores experiences and preferences of parents with pre-test and post-test counselling in a trial that uses WES for diagnostics. Second, it maps information and communication needs which exceed the counselling protocol, in order to acquire insight into how it can be improved. Data were gathered through in-depth interviews with parents of 15 children who were included in the trial. Information and communication needs of parents differed from the protocol with respect to (i) the type and amount of information provided about WES research, (ii) incidental findings, (iii) communication about progress of the study, and (iv) the communication of the results. Furthermore, parents preferred to have more of a communicative exchange with health care providers about their daily struggles and concerns related to their life with a diseased child and wanted to know how a diagnosis could offer help. There are different ways to meet parental needs, but we suggest that assigning a case manager might be a helpful option that deserves further exploration.
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
L
L
Krabbenborg
Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
J
J
Schieving
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
T
T
Kleefstra
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
L E L M
LE
Vissers
Department of Paediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
M A
MA
Willemsen
Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
J A
JA
Veltman
Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
S
S
van der Burg
D002648:Child; D003142:Communication; D003376:Counseling; D059472:Exome / Q000235:genetics*; D006801:Humans; D033162:Incidental Findings; D007258:Informed Consent; D009462:Neurology / Q000379:methods*; D010290:Parents; D010372:Pediatrics; D012017:Referral and Consultation; D017422:Sequence Analysis, DNA / Q000379:methods*
clinical care; genetic counselling; next generation sequencing; paediatric neurology; parents' experiences; whole exome sequencing