Genetic counselors (GCs) play a pivotal role in selecting clinically appropriate and cost-effective genetic testing. Several single-institution reports over the past decade provide evidence of the value GCs bring to this stewardship role across diverse settings in healthcare, including hospital laboratories, commercial laboratories, and insurance companies. This multi-center, prospective, and quantitative study describes the outcomes of GC review of genetic test requests over a four-week period at six hospital laboratories and three commercial laboratories, thus expanding our understanding of this emerging specialty in the genetic counseling field. This study also highlights the added value of utilizing GC expertise in stewardship efforts, namely selecting the most appropriate genetic testing and realizing significant cost savings. GC review of genetic test requests led to an average order modification rate of 22%-25%. It also resulted in significant cost savings to institutions. The projected average annual savings after GC review of genetic test requests approximated $665,600 for hospital laboratories and $1,651,000 for commercial laboratories. These study findings demonstrate the significant value of GC-led genetic test stewardship programs, allow for comparisons across institutions currently performing genetic test stewardship, and support the implementation of a GC-led stewardship program at institutions who currently do not have one.

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgc4.1403DOI Listing

Publication Analysis

Top Keywords

genetic test
24
test stewardship
12
hospital laboratories
12
commercial laboratories
12
review genetic
12
test requests
12
genetic
10
multi-center prospective
8
genetic testing
8
cost savings
8

Similar Publications

Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.

Genet Med

December 2024

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA; Harvard Medical School, Boston, MA.

Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.

Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.

View Article and Find Full Text PDF

Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited connective tissue disorder predominantly caused by pathogenic COL3A1 variants. Characteristic arterial and intestinal fragility and generalised severe tissue friability can lead to clinical events from childhood. We highlight a paucity of literature regarding children diagnosed with vEDS, possibly explained by a restraint in predictive testing, and present data on 63 individuals (23 index cases) with a clinical and genetic diagnosis of vEDS in childhood (<18 years) to address this.

View Article and Find Full Text PDF

In one of the earliest reports from China during COVID-19, it was noted that over 20% of patients hospitalized with the disease had significant elevations of troponin, a marker of myocardial tissue damage, that put them at a higher risk. In a hypothesis-independent whole exome sequencing (WES) study in hospitalized COVID-19 patients of diverse ancestry, we observed putative enrichment in pathogenic variants in genes known to be involved in the pathogenesis of cardiomyopathy. This observation led us to hypothesize that the observed high morbidity and mortality in these patients might be due to the presence of rare genetic factors that had previously been silent but became relevant as a consequence of the severe stress inflicted by an infection with SARS-CoV-2.

View Article and Find Full Text PDF

Y-chromosome short tandem repeats (Y-STRs) loci have significant research and application value in individual identification, parentage testing, kinship determination and genealogical DNA analysis due to their unique genetic characteristics. Currently, various commercial STR typing kits have used in forensic detection, which greatly promoting the scientific application of STR in criminal investigation and judicial trials. However, due to the complexity and specificity of biological samples, the special STR typing in the sample poses certain difficulties for the construction of DNA databases.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!