Evaluating a counseling strategy for diagnostic WES in pediatric neurology; an exploration of parents’ information and communication needs Lotte Krabbenborg1, Jolanda Schieving2, Tjitske Kleefstra3, Lisenka ELM Vissers3, Michèl A. Willemsen2, Joris A. Veltman3, Simone van der Burg1 1
Radboud institute for Health Sciences, Radboud University Medical Center
2
Department of Paediatric Neurology, Radboud University Medical Center
3
Department of Human Genetics, Radboud University Medical Center
Corresponding author: Lotte Krabbenborg Postal address Radboud institute for Health Sciences Postbus 9101, huispost 114 6500 HB Nijmegen Email: [email protected] Telephone: 0031(0)626706460 Fax: 024‐3540166 Conflict of interest: The authors have declared no conflicting interests Acknowledgments The authors would like to thank the parents who participated in this research and ZonMw for financial support of the project (40‐41200‐98‐9131).
This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/cge.12601
This article is protected by copyright. All rights reserved
Abstract As Whole Exome Sequencing (WES) is just starting to be used as a diagnostic tool in pediatric neurology for children with a neurological disorder, 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 fifteen children who were included in the trial. Information and communication needs of parents differed from the protocol with respect to: 1) the type and amount of information provided about WES research; 2) incidental findings; 3) communication about progress of the study; and 4) 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. Keywords: clinical care; genetic counselling; next generation sequencing; parents’ experiences; pediatric neurology; whole exome sequencing Introduction Whole exome sequencing (WES) is a technology that studies the entire protein‐coding region of a person’s genome. WES is increasingly used as a diagnostic tool in pediatric neurology as it is demonstrated to be effective in finding genetic causes for previously unresolved neurological disorder (1‐3). As the transition of WES from research to diagnostics for this group of patients is only recent, there are ongoing debates about how to best introduce WES to patients in clinical care (4). Scholarly debate in this respect is primarily geared towards settling issues of informed consent (IC) and incidental findings (IFs). Incidental findings are findings which are medically relevant but which are unrelated to the medical condition of the patient, and which are therefore not sought. Literature that reports experiences and needs of patients examined for example patients’ preferences with regard to what IFs they want to know about (5,7,8) and whether and how IFs should be returned (5,6). This article, however, does not only focus on IFs, but takes a wider perspective. First, it explores experiences and needs of the parents of patients with respect to the entire counselling process. This process starts with the information provision prior to the informed consent procedure, (pre‐test counselling) and ends with the communication of results and the information provision about those results (post‐test counselling). Second, as best practices for WES counselling still have to be determined, we explored additional information and communication needs of parents with regard to counselling, apart from the particular protocol. Our aim was to cover the variety of experiences and suggestions for improvement. Our research is part of a multidisciplinary translational study that took place at the Radboud University Medical Center (Radboudumc). Between September 2011 and March 2012, 50 children (
Radboud institute for Health Sciences, Radboud University Medical Center
2
Department of Paediatric Neurology, Radboud University Medical Center
3
Department of Human Genetics, Radboud University Medical Center
Corresponding author: Lotte Krabbenborg Postal address Radboud institute for Health Sciences Postbus 9101, huispost 114 6500 HB Nijmegen Email: [email protected] Telephone: 0031(0)626706460 Fax: 024‐3540166 Conflict of interest: The authors have declared no conflicting interests Acknowledgments The authors would like to thank the parents who participated in this research and ZonMw for financial support of the project (40‐41200‐98‐9131).
This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as doi: 10.1111/cge.12601
This article is protected by copyright. All rights reserved
Abstract As Whole Exome Sequencing (WES) is just starting to be used as a diagnostic tool in pediatric neurology for children with a neurological disorder, 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 fifteen children who were included in the trial. Information and communication needs of parents differed from the protocol with respect to: 1) the type and amount of information provided about WES research; 2) incidental findings; 3) communication about progress of the study; and 4) 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. Keywords: clinical care; genetic counselling; next generation sequencing; parents’ experiences; pediatric neurology; whole exome sequencing Introduction Whole exome sequencing (WES) is a technology that studies the entire protein‐coding region of a person’s genome. WES is increasingly used as a diagnostic tool in pediatric neurology as it is demonstrated to be effective in finding genetic causes for previously unresolved neurological disorder (1‐3). As the transition of WES from research to diagnostics for this group of patients is only recent, there are ongoing debates about how to best introduce WES to patients in clinical care (4). Scholarly debate in this respect is primarily geared towards settling issues of informed consent (IC) and incidental findings (IFs). Incidental findings are findings which are medically relevant but which are unrelated to the medical condition of the patient, and which are therefore not sought. Literature that reports experiences and needs of patients examined for example patients’ preferences with regard to what IFs they want to know about (5,7,8) and whether and how IFs should be returned (5,6). This article, however, does not only focus on IFs, but takes a wider perspective. First, it explores experiences and needs of the parents of patients with respect to the entire counselling process. This process starts with the information provision prior to the informed consent procedure, (pre‐test counselling) and ends with the communication of results and the information provision about those results (post‐test counselling). Second, as best practices for WES counselling still have to be determined, we explored additional information and communication needs of parents with regard to counselling, apart from the particular protocol. Our aim was to cover the variety of experiences and suggestions for improvement. Our research is part of a multidisciplinary translational study that took place at the Radboud University Medical Center (Radboudumc). Between September 2011 and March 2012, 50 children (
