Scoping review: Genetic/ genomic counselling considerations with genetic testing in NICUs and PICUs
Bibliographic record
Abstract
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.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.018 | 0.134 |
| Meta-epidemiology (narrow) | 0.002 | 0.001 |
| Meta-epidemiology (broad) | 0.004 | 0.005 |
| Bibliometrics | 0.013 | 0.016 |
| Science and technology studies | 0.002 | 0.002 |
| Scholarly communication | 0.006 | 0.004 |
| Open science | 0.002 | 0.003 |
| Research integrity | 0.004 | 0.003 |
| Insufficient payload (model declined to judge) | 0.008 | 0.001 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".