AI Article Synopsis
- Genetic and genomic technologies can accurately diagnose many genetic disorders, and genetic counselling is essential to support patients before and after testing.
- There is a notable lack of understanding regarding specific genetic counselling needs in Neonatal Intensive Care Units (NICUs) and Pediatric Intensive Care Units (PICUs), which this scoping review aims to address.
- Analyzing 170 studies revealed that most research focused on NICUs, with only 31% of studies providing comprehensive genetic counselling, highlighting a pressing need for improved pre- and post-test genetic counselling tailored to different clinical situations and cultural factors.
Article Abstract
Genetic and genomic technologies can effectively diagnose numerous genetic disorders. Patients benefit when genetic counselling accompanies genetic testing and international guidelines recommend pre- and post-test genetic counselling with genome-wide sequencing. However, there is a gap in knowledge regarding the unique genetic counselling considerations with different types of genetic testing in the Neonatal Intensive Care Unit (NICU) and the Pediatric Intensive Care Unit (PICU). This scoping review was conducted to identify the gaps in care with respect to genetic counselling for infants/pediatric patients undergoing genetic and genomic testing in NICUs and PICUs and understand areas in need of improvement in order to optimize clinical care for patients, caregivers, and healthcare providers. Five databases (MEDLINE [Ovid], Embase [Ovid], PsycINFO [Ebsco], CENTRAL [Ovid], and CINHAL [Ebsco]) and grey literature were searched. A total of 170 studies were included and used for data extraction and analysis. This scoping review includes descriptive analysis, followed by a narrative account of the extracted data. Results were divided into three groups: pre-test, post-test, and comprehensive (both pre- and post-test) genetic counselling considerations based on indication for testing. More studies were conducted in the NICU than the PICU. Comprehensive genetic counselling was discussed in only 31% of all the included studies demonstrating the need for both pre-test and post-test genetic counselling for different clinical indications in addition to the need to account for different cultural aspects based on ethnicity and geographic factors.
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| http://dx.doi.org/10.1111/cge.14446 | DOI Listing |
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