Metagenomic sequencing of plasma has been advertised by Karius, Inc. as a way to diagnose a variety of infectious syndromes. Due to the lack of robust evidence of clinical utility, our laboratory began actively stewarding Karius testing.
View Article and Find Full Text PDFInfect Control Hosp Epidemiol
November 2024
Objective: Multiplex polymerase chain reaction (PCR) panels for stool testing may be used to diagnose , which can circumvent more appropriate targeted testing, resulting in treatment of incidentally detected colonization. We sought to reduce diagnosis via a gastrointestinal pathogen panel (GIPP).
Design: Quasi-experimental, pre/post, retrospective cohort study from January 1, 2022, to January 31, 2024.
Background: Exome sequencing has been established as a fundamental tool in genetic diagnostics. It may also provide information about variants in genes unrelated to the primary purpose, so-called secondary findings. Especially, diagnoses of unnoticed inborn cardiac diseases are of high clinical relevance due to therapeutic options in context of prevention of sudden cardiac death.
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