Genetic counseling considerations with rapid genome‐wide sequencing in a neonatal intensive care unit

Abstract

As genome‐wide sequencing (GWS; exome sequencing [ES] and whole genome sequencing [WGS]) is implemented more frequently in the neonatal intensive care unit (NICU), it is important to understand parents’ opinions regarding GWS, and views toward incidental findings (IFs) (also known as secondary findings). RAPIDOMICS was a pilot study of rapid trio‐based (biological parents and neonate) ES for 25 neonates with a suspected genetic condition at the BC Women's Hospital NICU. As part of RAPIDOMICS, we explored parents' motivations and concerns regarding ES of their child, uptake of IFs for themselves, and rates of anxiety and depression at the time of pre‐test genetic counseling via administration of the Generalized Anxiety Disorder Assessment 7 and Patient Health Questionnaire 8. These findings were compared to those from the Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) study (outpatient trio‐based GWS) that includes pediatric patients with suspected genetic disease (with an average age of 10 years). Parents in RAPIDOMICS were more likely to identify “diagnosis” as their primary motivation to pursue GWS (p = 0.011), less likely to identify “no concerns” (p = 0.003), and less likely to opt in to receive IFs (p = 0.003) than parents in CAUSES. Rates of depression and anxiety in both groups were higher relative to the general population. We present novel findings regarding the similarities and differences in parental opinions and decisions of these cohorts.

Translating genomic testing results for pediatric critical care: Opportunities for genetic counselors

“…The desire to have a genetic counseling presence in critical care settings also brings forth the question of if genetic counselors should receive additional formal training to function in critical care settings? There are many unique medical and psychosocial considerations when it comes to counseling in a critical care settings (Ayres et al, ; Clowes Candadai et al, ; Smith, du Souich, Dragojlovic, Elliott, & Elliott, ). In the past, genetic counselors have primarily functioned in pediatric, cancer, and prenatal settings, but more recently roles in neurology, cardiology, pharmacology, and even psychiatry have emerged (Heald et al, ).…”

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

“…Over the past few years, Next Generation Sequencing (NGS), with its two main applications-whole exome sequencing (WES) and whole genome sequencing (WGS)-has started to be widely used for genetic analyses in ICUs for newborns and infants, especially when applied in the rapid mode. In critically ill infants, rapid-NGS can provide the results within 48-72 h and, when the clinical examination and interview are precisely collected, the diagnostic rates can reach >50% [5][6][7][8][9][10][11][12].…”

Delivering genome sequencing for rapid genetic diagnosis in critically ill children: parent and professional views, experiences and challenges

“…Whilst there is a growing body of research looking at stakeholder views and experiences of genomic sequencing for the diagnosis of rare diseases in children, very few studies focus on offering RGS to critically ill children. Studies in the US [ 15 ] and Canada [ 16 ] have examined parental experiences of RGS in the NICU only. Professional attitudes have been explored in the US [ 17 – 19 ] and Australia [ 20 ] and consider neonatal and paediatric settings.…”