Publications by authors named "Richelle A C M Olde Keizer"
Article Synopsis
- Genetic laboratories currently use diverse workflows to diagnose hereditary and congenital diseases, and this study assesses the potential of genome sequencing (GS) to streamline these processes.
- The researchers tested GS on 1,000 cases with known genetic variants to evaluate its effectiveness compared to existing methods, finding that GS detected 95% of variants across different categories.
- The results suggest that adopting a GS-first approach could replace multiple workflows in around 85% of clinical cases, allowing for more efficient and comprehensive diagnostics for rare genetic diseases.
Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.
Eur J Pediatr
June 2023
Article Synopsis
- Rapid exome sequencing (rES) was compared with routine genetic testing in a study involving 60 critically ill neonates to determine its impact on diagnosis and healthcare costs.
- rES achieved a higher diagnostic yield (20% vs. 10%) and provided results significantly faster (15 days vs. 59 days) than traditional methods.
- The study concluded that rES is clinically beneficial, offering improved diagnosis and reduced costs, suggesting it should be the standard first-tier genetic test for critically ill neonates.
It has been estimated that at least 6.0% of neonates admitted to the Neonatal Intensive Care Unit remains genetically undiagnosed because genetic testing is not routinely performed. The objective of this study is to provide an overview of average healthcare costs for patients admitted to the Neonatal Intensive Care Unit and to assess possible impact of implementing Whole Exome Sequencing (WES) on these total healthcare costs.
View Article and Find Full Text PDFObjective: Next Generation Sequencing (NGS) is increasingly used for the diagnosis of rare genetic disorders. The aim of this study is to review the different approaches for economic evaluations of Next Generation Sequencing (NGS) in pediatric care used to date, to identify all costs, effects, and time horizons taken into account.
Methods: A systematic literature review was conducted to identify published economic evaluations of NGS applications in pediatric diagnostics, i.
Background: The effects of a stroke, such as hemiparesis, can severely hamper the ability to walk and to maintain balance during gait. Providing support to stroke survivors through a robotic exoskeleton, either to provide training or daily-life support, requires an understanding of the balance impairments that result from a stroke. Here, we investigate the differences between the paretic and non-paretic leg in making recovery steps to restore balance following a disturbance during walking.
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