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Specific PHGKB|Pharmacogenomics PHGKB|Public Health Genomics and Precision Health Knowledge Base (PHGKB)

Last Posted: Apr 18, 2024
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Precision Medicine—Are We There Yet? A Narrative Review of Precision Medicine’s Applicability in Primary Care
W Evans et al, JPM, April 15, 2024 (Posted Apr 15, 2024 2PM)

From the abstract: "Precision medicine (PM) has the potential to transform an individual’s health, moving from population-based disease prevention to more personalised management. There is however a tension between the two, with a real risk that this will exacerbate health inequalities and divert funds and attention from basic healthcare requirements leading to worse health outcomes for many. All areas of medicine should consider how this will affect their practice, with PM now strongly encouraged and supported by government initiatives and research funding. In this review, we discuss examples of PM in current practice and its emerging applications in primary care, such as clinical prediction tools that incorporate genomic markers and pharmacogenomic testing. "

Nucleic acid-based drugs for patients with solid tumours.
Sebastian G Huayamares et al. Nat Rev Clin Oncol 2024 4 (Posted Apr 10, 2024 8AM)

From the abstract: "The treatment of patients with advanced-stage solid tumours typically involves a multimodality approach (including surgery, chemotherapy, radiotherapy, targeted therapy and/or immunotherapy), which is often ultimately ineffective. Nucleic acid-based drugs, either as monotherapies or in combination with standard-of-care therapies, are rapidly emerging as novel treatments capable of generating responses in otherwise refractory tumours. These therapies include those using viral vectors (also referred to as gene therapies), several of which have now been approved by regulatory agencies, and nanoparticles containing mRNAs and a range of other nucleotides. "

Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction of CYP2C9, HLA-A and HLA-B with anti-epileptic drugs.
Lisanne E N Manson et al. Eur J Hum Genet 2024 4 (Posted Apr 04, 2024 9AM)

From the abstract: "This guideline outlines the gene-drug interaction of CYP2C9 and HLA-B with phenytoin, HLA-A and HLA-B with carbamazepine and HLA-B with oxcarbazepine and lamotrigine. A systematic review was performed and pharmacotherapeutic recommendations were developed. For CYP2C9 intermediate and poor metabolisers, the DPWG recommends lowering the daily dose of phenytoin and adjust based on effect and serum concentration after 7–10 days. For HLA-B*15:02 carriers, the risk of severe cutaneous adverse events associated with phenytoin, carbamazepine, oxcarbazepine, and lamotrigine is strongly increased. For carbamazepine, this risk is also increased in HLA-B*15:11 and HLA-A*31:01 carriers. For HLA-B*15:02, HLA-B*15:11 and HLA-A*31:01 positive patients, the DPWG recommends choosing an alternative anti-epileptic drug. "

DNA test says it can predict opioid addiction risk. Skeptics aren’t so sure.
D Ovalle, Washington Post, March 25, 2024 (Posted Mar 25, 2024 8AM)

From the article: " Using a swab inside the cheek and a sophisticated computer algorithm, a DNA test recently approved by federal regulators promises to assess genetic risk of opioid addiction. The test’s maker says results give doctors and patients a crucial tool when considering use of the very pain pills that ignited the nation’s opioid crisis. Some geneticists and public health experts say the test relies on unsound science."

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Advanced practice nurse pharmacogenomics capacity and utilization. External Web Site Icon
Cathy R Fulton et al. J Am Assoc Nurse Pract 2024
Olaparib not cost-effective as maintenance therapy for platinum-sensitive, BRCA1/2 germline-mutated metastatic pancreatic cancer. External Web Site Icon
Tarun Mehra et al. PLoS One 2024 19(4) e0301271
Patient perspectives on pharmacogenomic (PGx) testing for antidepressant prescribing in primary care: a qualitative description study. External Web Site Icon
Alexandra Cernat et al. J Community Genet 2024
The role of community engagement in promoting research participants' understanding of pharmacogenomic research results: Perspectives of stakeholders involved in HIV/AIDS research and treatment. External Web Site Icon
Sylvia Nabukenya et al. PLoS One 2024 19(4) e0299081
A New Cloud-Native Tool for Pharmacogenetic Analysis. External Web Site Icon
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Implementation of CYP2C19 and CYP2D6 genotyping to guide antidepressant use in a large rural health system. External Web Site Icon
Natasha J Petry et al. Am J Health Syst Pharm 2024
Estimation of the benefit from pre-emptive genotyping based on the nationwide cohort data in South Korea. External Web Site Icon
Ki Young Huh et al. Clin Transl Sci 2024 17(3) e13772
Clinical evaluation of a low-coverage whole-genome test for detecting homologous recombination deficiency in ovarian cancer. External Web Site Icon
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Clinical pharmacists' knowledge, attitude, perception, and beliefs about the role of pharmacogenetic testing for genes polymorphisms when prescribing mercaptopurine. External Web Site Icon
Norah O Abanmy et al. Saudi Pharm J 2024 32(4) 102022
Frequencies of CYP2C19 and CYP2D6 gene variants in a German inpatient sample with mood and anxiety disorders. External Web Site Icon
Maike Scherf-Clavel et al. World J Biol Psychiatry 2024 1-11


Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch 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.