ClinPGx Blog (Page 17)

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New PharmGKB pathways for methylphenidate

PharmGKB released two new pathways for methylphenidate. Methylphenidate is a central nervous system stimulant used for the treatment of attention deficit hyperactivity disorder and narcolepsy and elicits its effects by blocking the reuptake of the neurotransmitter dopamine and norepinephrine into the presynaptic neuron. The pharmacokinetics pathway depicts the metabolism and

CYP2D614A and 14B are updated to 114 and 14 based on the current PharmVar release

PharmGKB and CPIC revised the CYP2D6 allele names *14A and *14B to be in concordance with the latest major PharmVar release. CYP2D6*14A is revised to *114 and *14B to *14 in the variant and clinical annotations. The allele choices in the annotation of the CPIC guidelines for CYP2D6 have

Major PharmVar update released

PharmVar has announced the release of a major update to www.pharmvar.org. Notable new features include a revised haplotype naming system, the introduction of unique haplotype IDs, a functional impact display next to causative SNVs in brackets and a revised allele (CYP2D6*14A is now *114). The new gene

PharmGKB data used to establish a minimum genetic testing panel for psychiatry

The lack of standardization of which genes or alleles should be included in pharmacogenetic testing panels is a major barrier to the full implementation of pharmacogenomics in the clinic. In an effort to help clinicians select an appropriate pharmacogenetic test, Dr. Chad Bousman and Dr. Abdullah Al Maruf of the

DPYD genotyping implementation study published

In a journal article published online last week in The Lancet Oncology, Henricks et al. reported that DPYD genotype-based dose reductions of fluorouracil and capecitabine in cancer patients resulted in improved safety outcomes and was feasible in clinical practice. The authors prospectively genotyped four DPYD variants: rs3918290 (1905+1G>

PharmGKB oxycodone pathway published in Pharmacogenetics and Genomics

The PharmGKB Oxycodone Pathway, Pharmacokinetics is featured on the cover of the October 2018 issue of Pharmacogenetics and Genomics. Oxycodone is an opioid analgesic metabolized by CYP2D6 and CYP3A4/5 to a number of metabolites, including oxymorphone which itself can be used as an analgesic.The pathway was produced by

CPIC grant awarded

The co-PIs of the Clinical Pharmacogenetics Implementation Consortium (CPIC), Drs. Mary Relling of St. Jude Children's Research Hospital (SJCRH) and Teri Klein of Stanford University, will receive $5 million over the next 5 years from the National Institutes of Health (NIH) to continue and expand the project. CPIC

Curators' Favorite Papers

An article in Pharmacogenomics Journal puts the spotlight on the need to continue look for candidate genes and variants in many populations even when it seems as though current candidates explain a large amount of variability. [PMID: 30100615] identifies new candidate genes and variants that are important when the most

PharmGKB Clozapine PK Pathway appears on the cover of Pharmacogenetics and Genomics

The Clozapine Pharmacokinetics Pathway is featured on the cover of September 2018 volume 28 issue 9 of Pharmacogenetics and Genomics. This pathway shows the candidate genes involved in the metabolism of the antipsychotic drug clozapine and was developed by curator Dr Caroline F. Thorn with Professor Daniel Mueller of the

CYP2D6 genotype to phenotype standardization project - seeking feedback

The assignment of the CYP2D6 metabolizer phenotype based on a subject's genotype is an important aspect of clinical implementation of pharmacogenetics knowledge. Especially for CYP2D6, the genotype-inferred phenotypes vary across laboratories and guidelines. The goal of the CYP2D6 genotype to phenotype standardization project is to harmonize this translation.