Genotype and Phenotype Concordance for Pharmacogenetic Tests Through Proficiency Survey Testing: An Update

Archives of Pathology & Laboratory Medicine
Ann M MoyerKaren E Weck

Abstract

As pharmacogenetic testing is incorporated into routine care, it is essential for laboratories to provide accurate and consistent results. Certified laboratories must successfully complete proficiency testing. To understand and examine trends in participation and performance of laboratories participating in the College of American Pathologists pharmacogenetic proficiency testing surveys. Results from College of American Pathologists pharmacogenetic proficiency testing challenges from 2012 through 2017 were reviewed for concordance with expected genotype and phenotype for each sample (intended responses). Laboratories correctly reported results for 96.7% to 100% of samples with no variants. Excluding CYP2D6, laboratories correctly detected and reported variant alleles for each gene (93.7%-99.2% correct). CYP2D6 showed lower concordance, with 83.1% of laboratories reporting the intended genotype across all samples; however, in many cases, the laboratories that did not report a variant allele did not test for that allele. Among laboratories reporting the intended genotype, most successfully reported the intended phenotype (85.9%-99.0%). Although laboratories are generally performing well, there is room for additional improvement, ...Continue Reading

References

Feb 7, 2008·Clinical Pharmacology and Therapeutics·J J SwenV H M Deneer
Jan 29, 2011·Clinical Pharmacology and Therapeutics·M V Relling, T E Klein
Mar 18, 2011·Clinical Pharmacology and Therapeutics·J J SwenH-J Guchelaar
Dec 30, 2011·Clinical Pharmacology and Therapeutics·K R CrewsUNKNOWN Clinical Pharmacogenetics Implementation Consortium
Sep 21, 2012·Clinical Pharmacology and Therapeutics·M Whirl-CarrilloT E Klein
May 24, 2013·Clinical Pharmacology and Therapeutics·S A ScottUNKNOWN Clinical Pharmacogenetics Implementation Consortium
Sep 3, 2013·Archives of Pathology & Laboratory Medicine·Alan H B Wu
Nov 21, 2013·Clinical Pharmacology and Therapeutics·S L Van DriestD M Roden
May 15, 2015·Clinical Pharmacology and Therapeutics·J K HicksUNKNOWN Clinical Pharmacogenetics Implementation Consortium
Oct 20, 2015·Clinical Pharmacology and Therapeutics·L V KalmanU M Zanger
Dec 2, 2015·The Journal of Molecular Diagnostics : JMD·Victoria M PrattLisa V Kalman
May 3, 2016·The Lancet. Psychiatry·Chad A Bousman, Malcolm Hopwood
Jul 22, 2016·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kelly E CaudleJames M Hoffman
Dec 17, 2016·Clinical Pharmacology and Therapeutics·B MoriyamaT J Walsh
Feb 1, 2018·Clinical Pharmacology and Therapeutics·Matthew P GoetzTeri E Klein
Feb 24, 2018·The Journal of Molecular Diagnostics : JMD·Victoria M PrattKaren E Weck
Jul 1, 2018·The Journal of Molecular Diagnostics : JMD·Maria P BettinottiDimitri Monos
Sep 15, 2018·Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America·UNKNOWN AASLD-IDSA HCV Guidance Panel
Feb 26, 2019·Clinical Pharmacology and Therapeutics·Jacob T BrownJ Steven Leeder

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Journal of Occupational Medicine. : Official Publication of the Industrial Medical Association
H G McCoy
American Industrial Hygiene Association Journal
Wei sheng yan jiu = Journal of hygiene research
Jiaolan YangDongqing Chen
Wei sheng yan jiu = Journal of hygiene research
Jiaolan YangMengmeng Dong
© 2021 Meta ULC. All rights reserved