AI Article Synopsis
Article Abstract
Cascade testing for cancer predisposition offers a highly efficient and cost-effective method for identifying individuals at increased risk for cancer, in whom targeted interventions can often improve survival. The aim of this study was to determine the impact of free cascade testing on uptake and identify other associated factors. Demographic and clinical data were gathered prospectively for 183 probands found to have a pathogenic variant associated with cancer predisposition and their 826 first-degree relatives (FDRs). The provision of free cascade testing was significantly associated with uptake (21.6% vs 6.1%; , 0.001). Relationship type between FDR and proband and FDR age also demonstrated significant associations, suggesting greater engagement amongst younger generations. Overall, 29.0% (53/183) of families had at least 1 FDR who underwent cascade testing. Of these families, 67.9% (36/53) had an uptake rate of at least 40.0%. Cost is a significant barrier to cascade testing uptake in Singapore. Tailored interventions targeting underrepresented groups and genetic counseling approaches supporting family communication and decision-making are necessary.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6744424 | PMC |
| http://dx.doi.org/10.1038/s41525-019-0096-5 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Exploring the impact of insurance switching on the cost-effectiveness of population genetic screening for familial hypercholesterolemia to US payers.
J Clin Lipidol
December 2024
University of North Carolina at Chapel Hill, UNC Eshelman School of Pharmacy, 301 Pharmacy Lane, Chapel Hill, NC 27599, USA.
Background: Widespread familial hypercholesterolemia screening requires a large upfront economic investment, but the health benefits and cost savings of cardiovascular disease prevention directed by screening occur over many years.
Objective: We evaluated the cost-effectiveness of population genetic screening for familial hypercholesterolemia compared to cascade testing to US payers while accounting for patient insurance switching between commercial and Medicare insurance.
Methods: We developed a hybrid decision-tree Markov model to assess genetic screening in 20-year-old adults over a lifetime horizon in which cohort members transitioned between commercial payers representing three commercial plans and Medicare.
A single RBM20 missense variant is a potential contributor to dilated cardiomyopathy and/or isolated left ventricular dilatation in the Emilia Romagna region of Italy.
Int J Cardiol
January 2025
Medical Genetics Unit, Romagna Agency of Health, Italy.
Background: non-syndromic dilated cardiomyopathy (DCM) is found to correlate with a genetic cause in 30-40 % of cases. The identification of a causative gene variant can guide treatment options and cascade testing of at-risk family members. Cardiomyopathy multigene panels are routinely used to identify the genetic cause, but often detect variants of uncertain significance (VUS).
View Article and Find Full Text PDFSalvianolic acid B drives gluconeogenesis and peroxisomal redox remodeling in cardiac ischemia/reperfusion injury: A metabolism regulation by metabolite signal crosstalk.
Free Radic Biol Med
January 2025
Shanxi Key Laboratory of Innovative Drug for the Treatment of Serious Diseases Basing on the Chronic Inflammation, College of Traditional Chinese Medicine and Food Engineering, Shanxi University of Chinese Medicine, Taiyuan, Shanxi 030619, China; School of Pharmacy, Shanxi Medical University, Taiyuan 030001, China; Medicinal Basic Research Innovation Center of Chronic Kidney Disease, Ministry of Education, Shanxi Medical University, Taiyuan 030001, China. Electronic address:
Cardiac metabolism relies on glycogen conversion by glycolysis. Glycolysis intersects fatty acid oxidation and often directs a signal crosstalk between redox metabolites. Myocardium with ischemia/reperfusion significantly diverts from normal metabolism.
View Article and Find Full Text PDFRational multienzyme architecture design with iMARS.
Cell
January 2025
State Key Laboratory of Microbial Metabolism, Joint International Research Laboratory of Metabolic & Developmental Sciences, and School of Life Sciences and Biotechnology, Shanghai Jiao Tong University, Shanghai 200240, China; Zhangjiang Institute for Advanced Study, Shanghai Jiao Tong University, Shanghai 200240, China; Research Center for Proteins & Bits, Lumy Biotechnology, Changzhou, Jiangsu 213200, China. Electronic address:
Biocatalytic cascades with spatial proximity can orchestrate multistep pathways to form metabolic highways, which enhance the overall catalytic efficiency. However, the effect of spatial organization on catalytic activity is poorly understood, and multienzyme architectural engineering with predictable performance remains unrealized. Here, we developed a standardized framework, called iMARS, to rapidly design the optimal multienzyme architecture by integrating high-throughput activity tests and structural analysis.
View Article and Find Full Text PDFAge- and sex-specific care cascades to detect gaps in the care of children with tuberculosis in Bangladesh: a cohort study.
J Glob Health
January 2025
Boston University School of Public Health, Boston, Massachusetts, USA.
Background: Programmatic interventions to increase the detection of children with tuberculosis (TB) are rarely evaluated to understand age- and sex-specific completion rates. We applied modified TB screening and treatment cascade frameworks to assess indicators of effective implementation by age and sex of a TB screening program for children (zero to 14 years) in Bangladesh.
Methods: We implemented an intensified screening program for paediatric TB detection in 119 health care facilities (2018-21).
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!