Publications by authors named "K E Weck"
Gain-of-function variants in the WDR44 gene have recently been associated with an X-linked ciliopathy-related neurodevelopmental phenotype. Here, we report on a WDR44 loss-of-function (LOF) variant identified in the genome sequence from a male fetus enrolled in the Prenatal Genetic Diagnosis by Genomic Sequencing (PrenatalSEQ) multicenter study. The phenotype is consistent with the described X-linked ciliopathy that includes developmental delay, microcephaly, congenital heart defects, kidney abnormalities, cryptorchidism, musculoskeletal abnormalities, craniofacial dysmorphism, and effusions.
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- The Association for Molecular Pathology's Pharmacogenomics Working Group aims to establish key attributes and a standard set of genetic variants for clinical pharmacogenetic testing.
- The document outlines two tiers of recommended genetic variants, which will guide clinical laboratories in creating pharmacogenomics assays.
- Focused on dihydropyrimidine dehydrogenase (DPYD) testing, the recommendations encourage standardization while serving as a flexible reference rather than strict rules.
Article Synopsis
- FOLFIRI, a treatment for metastatic colorectal cancer, was tested using a pharmacogenomic strategy to tailor irinotecan doses based on UGT1A1 genotypes to see if it could improve progression-free survival (PFS).
- In a study with 100 participants, results showed a median PFS of 12.5 months, which was shorter than expected, with variations in PFS based on genotype.
- Although a tailored irinotecan strategy showed modest improvements in PFS for certain genotypes, it did not significantly change overall treatment outcomes and shouldn't replace current standard practices for first-line treatment.
Correction: Foss et al. The Rise of Population Genomic Screening: Characteristics of Current Programs and the Need for Evidence Regarding Optimal Implementation. 2022, , 692.
J Pers Med
February 2024
There was an error in the original publication [...
View Article and Find Full Text PDFThe goals of the Association for Molecular Pathology Clinical Practice Committee's Pharmacogenomics (PGx) Working Group are to define the key attributes of pharmacogenetic alleles recommended for clinical testing and a minimum set of variants that should be included in clinical PGx genotyping assays. This document series provides recommendations for a minimum panel of variant alleles (tier 1) and an extended panel of variant alleles (tier 2) that will aid clinical laboratories when designing assays for PGx testing. The Association for Molecular Pathology PGx Working Group considered functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, and other technical considerations for PGx testing when developing these recommendations.
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