Scoping review: Genetic/ genomic counselling considerations with genetic testing in NICUs and PICUs
Creators: name: Kim, Sunu
Publisher: name: Open Science Framework
Year: 2022
Subjects: subject: Other Medicine and Health Sciences
subject: Medicine and Health Sciences
subject: Analytical, Diagnostic and Therapeutic Techniques and Equipment
subject: Counseling
subject: Social and Behavioral Sciences
subject: Health and Medical Administration
subject: Genetic Counselling
subject: Genetic testing
subject: Genomic Counselling
subject: Neonatal Intensive Care Units
subject: Neonatology
subject: NICUs
subject: Pediatric Intensive Care Units
subject: PICUs
subject: Scoping Review

description: Genetic and genomic technologies can effectively diagnose multiple genetic disorders. Guidelines recommend genetic counselling accompany genetic testing. Yet, there is a gap in knowledge regarding the genetic counselling considerations with genetic testing in the NICU and PICU. This scoping review will be conducted to identify the gaps in care and understand which areas are in need to be improve clinical care for patients, parents, and healthcare providers. The aim of this scoping review is to provide an overview of published, peer-reviewed, and other literature on the genetic/genomic counselling considerations with genetic testing of critically ill infants in neonatal intensive care units (NICUs) and patients in paediatric intensive care units (PICUs). The objective is to determine the gaps in care with respect to genetic counselling for infants undergoing genetic and genomic testing with considerations of parents and healthcare providers.Studies that include/cover/review/analyze the genetic counselling process in NICUs and/or PICUs using any genetic testing tool (for example: genome, exome, whole genome, whole exome sequencing, chromosomal microarray analysis, and multigene panels). The studies will be limited to English language only due to the resources available to the research team. We acknowledge potential bias this may introduce. Publication type will include both peer-reviewed journal articles and targeted grey literature. The included articles will consider critically ill newborns who are patients in the NICU. PICU was added since infants with heart defects are transferred to the PICU in British Columbia, Canada. Articles that include other groups, such as parents and health care providers, who are involved in genetic/ genomic counselling in NICU and PICU, will also be included. The study design will not be restricted in an attempt to map the literature and identify knowledge gaps in these care settings. This scoping review will follow the format outlined by the Preferred Reporting Items for Systematic Reviews and Meta-analyses extension for Scoping Reviews (PRISMA_Scr) guidelines. The databases, which include MEDLINE (Ovid), Embase (Ovid), PsycINFO (Ebsco), Cochrane Central Register of Controlled Trials, and CINHAL (Ebsco), will be searched using a prescribed search strategy created with the assistance of a research librarian. Articles that meet the inclusion criteria will be included and analyzed as they related to the research question. The identified sources will initially be screened (titles and abstracts) by two independent reviewers. Sources that are duplicates or do not conform to the inclusion criteria will be excluded at the initial stage. The second screening will be conducted using full-text studies by the same two independent reviewers to analyse the inclusion of studies.