DPYD genotyping recommendations published
August 2024—The Association for Molecular Pathology published in July a joint consensus recommendation on DPYD genotyping. The intent is to provide guidance to clinical laboratories and assay manufacturers that develop, validate, and/or offer clinical DPYD pharmacogenomic testing (doi.org/10.1016/j.jmoldx.2024.05.015).
“Testing for variants in the DPYD gene can help identify individuals who may be at increased risk for severe fluoropyrimidine-related toxicity,” Victoria Pratt, PhD, co-chair of the AMP PGx working group and director of scientific affairs for pharmacogenetics at Agena Bioscience, said in a July 22 statement announcing the publication.
Individuals with decreased DPD (dihydropyrimidine dehydrogenase) activity are less able to break down fluoropyrimidines to inactive metabolites, thereby increasing exposure to active drug moieties. Compromised DPD activity increases risk for potentially life-threatening fluorouracil toxicity.
The consensus recommendation is a collaboration of the AMP, CAP, and others: American College of Medical Genetics and Genomics, Clinical Pharmacogenetics Implementation Consortium, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, Pharmacogenomics Knowledgebase, and Pharmacogene Variation Consortium.
De novo authorization for C. auris Direct assay
The Food and Drug Administration granted de novo authorization for Diasorin’s Simplexa C. auris Direct kit to test patients suspected of Candida auris colonization.
The real-time RT-PCR assay is used for the direct in vitro qualitative detection of C. auris DNA from a swab of axilla/groin from patients suspected of C. auris colonization and detects the six C. auris clades circulating worldwide. It’s run on the Liaison MDX; results are available in less than two hours.
T-Neuro Pharma spotlights Alzheimer’s research
Biotechnology firm T-Neuro Pharma announced publication of an article titled “Antigen-Specific Age-Related Memory CD8 T Cells Induce and Track Alzheimer’s-Like Neurodegeneration” (doi.org/10.1073/pnas.2401420121). The company highlighted the following findings:
- Unlike traditional approaches that focus on the symptoms of Alzheimer’s, such as plaques and tangles, T-Neuro Pharma’s research identifies and targets earlier events in the disease’s progression.
- The research team identified a critical event that likely occurs before the formation of plaques and tangles.
- The study reveals that a specific population of T cells enters the brain and targets neurons, initiating a cascade of events that lead to the hallmark pathologies of Alzheimer’s and cognitive decline.
- These T cells not only accumulate in the brains of Alzheimer’s patients but also can be detected disappearing from blood, enabling the identification of patients early in the disease progression.
- The findings open up new avenues for therapeutic development by targeting these T cells.