Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

Abstract

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.

Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases

“…This may complicate the counselling process. Our research suggests that it may be advisable to prepare parents in advance for this continued uncertainty after obtaining the test results, and to provide them with follow-up care in order to deal with the concerns and questions raised by the results (Krabbenborg et al 2015). Furthermore, counsellors can re-contact parents and inform them when new literature about their child’s disease becomes available in order to diminish their uncertainty (see also Reiff et al 2012).…”

“…Our study has shown that the identification of potential diagnostically relevant sequence variants in the parents (e.g., X-linked recessive mutations in mothers) leads to new questions and uncertainties. Yet, we have previously shown that the desire of parents to identify the cause of their child’s disease nullifies any pre-test distress on the potential risk of identifying any medically relevant genetic variants in their own DNA (Krabbenborg et al 2015). This combination of factors indicates that sufficient amounts of time should spent in pre- and post-test counselling to ensure parents understand the potential risks of the test and how such potential risks may affect their lives.…”

“…The protocol covered two main topics: 1) parents’ evaluation of the WES-counselling procedure, including questions concerning motivations, informed consent, and incidental findings, and 2) parents’ evaluation of whether and how the WES test results changed their daily life with their child. This paper primarily addresses parents’ responses to questions concerning how WES impacted their daily lives (2), for instance: “Can you describe what it means to live with a child with a medical condition?” “Can you describe your day-to-day activities?” “Do you connect with peers (parents in similar situations)?” “Can you describe whether and how the WES test results influenced your already-established relations with peers?” (For more information on parents’ evaluation of the WES counselling protocol, see Krabbenborg et al 2015.) The aim of the interviews was to gain insight into a variety of themes.…”

“…Currently much attention is given to the information that should be provided in the pre-test counselling procedure prior to the child’s (and parents’) participation in WES trials, such as information on informed consent and the possibility of incidental findings (Appelbaum et al 2014; Krabbenborg et al 2015; Rigter et al 2013; Hitch et al 2014; Levenseller et al 2013; Roche and Palmer 2014; Sapp et al 2013; Tabor et al 2012). Little is known, however, about how parents process and experience a (positive, negative, or inconclusive) result from WES when they return home to their daily lives with their child.…”

How Do Providers Discuss the Results of Pediatric Exome Sequencing with Families?

“…Genetics professionals often focus on communicating genome-based scientific information with less attention to nuanced and variable psychosocial issues [14,17,18]. Such communication involves heavy use of technical jargon that may overwhelm, confuse and frustrate families [19] whose primary concerns center on medical management, daily care and quality of life [20,21]. …”