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Last Posted: Aug 12, 2022
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TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Royal Dutch Pharmacists Association, European Society for Pharmacogenomics and Personalized Therapy, and Pharmacogenomics Knowledgebase.
Pratt Victoria M et al. The Journal of molecular diagnostics : JMD 2022 8

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 AMP PGx Working Group considered functional impact of the variant alleles, allele frequencies in multiethnic populations, the availability of reference materials, as well as other technical considerations for PGx testing when developing these recommendations.

Population Genetic Testing: Save Lives And Money, While Avoiding Financial Toxicity
E Matloff, Forbes, August 4, 2022

In theory, population genetic testing makes sense. Instead of waiting for a person to die of a heart attack at a young age, we can learn of some of those risks ahead of time and mitigate them. This approach works not only for the person having testing and their family members – who may also be at risk – but also for our medical system, employers, and overarching health care costs that we, as a society, want to minimize.

Estimating diagnostic noise in panel-based genomic analysis.
Beaumont Robin N et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 8

Although large gene panels may be the best strategy to maximize diagnostic yield in genetically heterogeneous diseases, they frequently prioritize likely benign variants requiring follow up. Most individuals have =1 rare nonsynonymous variant in panels containing >500 disease genes. Extreme caution should be applied when interpreting candidate variants, particularly in the absence of relevant phenotypes.

Improving access to genetic services for underserved populations: Amish, Mennonite, and other Plain communities
A Kantipuly et al, CDC Blog Post, August 3, 2022 Brand

Lack of access to genetic services in rural areas could contribute to disparities in quality of care, but tailored approaches can overcome some barriers and improve care. Here we present the example of the Midwest Genetics Network (MGN) outreach with the Plain communities.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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