Last Posted: May 30, 2024
Spotlight
Latest News and Publications
Pharmacogenomic insights in psychiatric care: uncovering novel actionability, allele-specific CYP2D6 copy number variation, and phenoconversion in 15,000 patients.
Jai N Patel et al. Mol Psychiatry 2024
A systematic review of pharmacogenetic testing to guide antipsychotic treatment.
Noushin Saadullah Khani et al. Nat Ment Health 2024 2(5) 616-626
Cost-effectiveness analysis of CYP3A5 genotype-guided tacrolimus dosing in solid organ transplantation using real-world data.
Kimberly M Deininger et al. Pharmacogenomics J 2024 24(3) 14
Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges.
Padraig Dixon et al. Health Econ Policy Law 2024 1-13
Clinical actionability of BRCA2 alterations in uterine leiomyosarcoma: a molecular tumor board case report and a cBioPortal comprehensive analysis.
Luca Boscolo Bielo et al. Oncologist 2024
Clinical Practice Patterns in Sickle Cell Disease Treatment: Disease-Modifying and Potentially Curative Therapies.
Luisanna M Sánchez et al. J Pediatr Hematol Oncol 2024
Economic Evaluation of HLA-B*15:02 Genotyping for Asian Australian Patients With Epilepsy.
Yaron Gu et al. JAMA Dermatol 2024
Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system.
Elizabeth Charnysh et al. Genet Med 2024 101160
Evinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia.
Sophie Béliard et al. Arterioscler Thromb Vasc Biol 2024
Pharmacogenomic Clinical Support Tools for the Treatment of Depression.
Matthew L Baum et al. Am J Psychiatry 2024 appiajp20230657
Clinician perspectives regarding CYP2C19 genotype testing in patients with critical limb ischemia: A Delphi approach.
Christopher Regan et al. Vascular 2024 17085381241246318
Do future healthcare professionals advocate for pharmacogenomics? A study on medical and health sciences undergraduate students.
Hanan Al-Suhail et al. Front Pharmacol 2024 151377420
Enhancing clinical decision support with genomic tools in breast cancer: A Scottish perspective.
A L Peters et al. Breast 2024 75103728
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.
Daniel L Hertz et al. Am J Health Syst Pharm 2024
Advanced practice nurse pharmacogenomics capacity and utilization.
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.
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.
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.
Sylvia Nabukenya et al. PLoS One 2024 19(4) e0299081
A New Cloud-Native Tool for Pharmacogenetic Analysis.
David Yu Yuan et al. Genes (Basel) 2024 15(3)
Implementation of CYP2C19 and CYP2D6 genotyping to guide antidepressant use in a large rural health system.
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.
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.
Romain Boidot et al. Eur J Cancer 2024 202113978
Clinical pharmacists' knowledge, attitude, perception, and beliefs about the role of pharmacogenetic testing for genes polymorphisms when prescribing mercaptopurine.
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.
Maike Scherf-Clavel et al. World J Biol Psychiatry 2024 1-11
Real-World Data and Clinical Implications of Next-Generation Sequencing (NGS)-Based Analysis in Metastatic Breast Cancer Patients.
Fabio Canino et al. Int J Mol Sci 2024 25(5)
Empowering personalized pharmacogenomics with generative AI solutions.
Mullai Murugan et al. J Am Med Inform Assoc 2024
Exploring the impact and utility of genomic sequencing in established CKD.
Julia Jefferis et al. Clin Kidney J 2024 17(3) sfae043
The cost-effectiveness of germline BRCA testing-guided olaparib treatment in metastatic castration resistant prostate cancer.
Srinivas Teppala et al. Int J Technol Assess Health Care 2024 40(1) e14
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing.
Callan Russell et al. Clin Transl Sci 2024 17(3) e13737
A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.
Shahariar Mohammed Fahim et al. Per Med 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
Laura D'Erasmo et al. Eur J Prev Cardiol 2024
Impact on costs and outcomes of multi-gene panel testing for advanced solid malignancies: a cost-consequence analysis using linked administrative data.
Alberto Hernando-Calvo et al. EClinicalMedicine 2024 69102443
PillHarmonics™: An Orchestrated Pharmacogenetics Medication Clinical Decision Support Service.
Robert H Dolin et al. Appl Clin Inform 2024
A Bayesian approach for investigating the pharmacogenetics of combination antiretroviral therapy in people with HIV.
Wei Jin et al. Biostatistics 2024
Opportunities for Pharmacogenetic Testing to Guide Dosing of Medications in Youths With Medicaid.
Sonya Tang Girdwood et al. JAMA Netw Open 2024 7(2) e2355707
An update review of new therapies in sickle cell disease: the prospects for drug combinations.
Sanne Lugthart et al. Expert Opin Pharmacother 2024
Genetic and non-genetic predictors of risk for opioid dependence.
Peter J Na et al. Psychol Med 2024 1-8
Using Machine Learning to Determine a Suitable Patient Population for Anakinra for the Treatment of COVID-19 Under the Emergency Use Authorization.
Liu Qi, et al. Clinical pharmacology and therapeutics 2024 0 0.
Assessing the utility of measurement methods applied in economic evaluations of pharmacogenomics applications.
Vasileios Fragoulakis et al. Pharmacogenomics 2024
Measuring Costs of Cardiovascular Disease Prevention for Patients with Familial Hypercholesterolemia in Administrative Claims Data.
Lauren E Passero et al. High Blood Press Cardiovasc Prev 2024
Modeling health outcomes associated with BRCA testing and treatment strategies for patients with metastatic pancreatic cancer.
Neeharika Agnihotri et al. Pancreatology 2024
Use of drugs with pharmacogenomics (PGx)-based dosing guidelines in a Danish cohort of persons with chronic kidney disease, both on dialysis and not on dialysis: Perspectives for prescribing optimization.
Niels Westergaard et al. Basic Clin Pharmacol Toxicol 2024
Effects of Social Determinants and Pharmacogenetic Medication Interactions on 90-Day Hospital Readmissions.
Sean David et al. Ann Fam Med 2024 21(Suppl 3)
Implementation of clopidogrel pharmacogenetic clinical decision support for a preemptive return of results program.
Christina L Aquilante et al. Am J Health Syst Pharm 2024
Next-generation sequencing in pharmacogenomics - fit for clinical decision support?
Yitian Zhou et al. Expert Rev Clin Pharmacol 2024
The landscape of the methodology in drug repurposing using human genomic data: a systematic review.
Lijuan Wang et al. Brief Bioinform 2024 25(2)
Therapeutic Drug Monitoring and Pharmacogenetic Testing as Guides to Psychotropic Drug Dose Adjustment: An Observational Study.
Elodie Cuvelier et al. Pharmaceuticals (Basel) 2024 17(1)
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
Laura K Wiley et al. Am J Hum Genet 2024 111(1) 11-23
Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors' and patients' perspective.
Wei Leik Ng et al. PLoS One 2024 19(1) e0296498
Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.
Abdullah Al-Ashwal et al. J Clin Lipidol 2023
Spotlight
Exceptional Genetics, Generalizable Therapeutics, and Coronary Artery Disease
(Posted May 30, 2024 0PM)
From the article: "The increasingly widespread availability of genomic sequencing has enabled the identification of persons and families with uniquely favorable traits, including a very low incidence of clinical events. Such exceptional persons across diverse communities are playing an important role in the genesis of medicines for common cardiovascular diseases. "
Pharmacogenomics, Race, and Treatment Outcome in Pediatric Acute Myeloid Leukemia
(Posted May 18, 2024 4PM)
From the abstract: " Can tailoring the intensity of induction therapy mitigate racial disparities in the outcome of pediatric patients with acute myeloid leukemia (AML)? Findings: In this comparative effectiveness analysis of 86 Black and 359 White patients with AML, Black patients exhibited a higher prevalence of low cytarabine pharmacogenomic 10–single-nucleotide variant (ACS10) scores, which were associated with an unfavorable outcome after initial treatment with low-dose cytarabine-based induction therapy. Augmentation of induction therapy was associated with improved outcome for patients with low ACS10 scores and with no disparity in outcome between Black patients and White patients."
Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system
(Posted May 08, 2024 11AM)
From the abstract: " This study explored employee health behavior changes and healthcare utilization following workplace genetic testing (wGT). Wellness program-associated wGT seeks to improve employee health, but related health implications are unknown. Methods: Employees of a large U.S. healthcare system offering wGT (cancer, heart disease, and pharmacogenomics - PGx) were sent electronic surveys. Self-reported data from those who received test results were analyzed. Descriptive statistics characterized responses, while logistic regression analyses explored correlates of responses to wGT."
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. "
Latest News and Publications
Jai N Patel et al. Mol Psychiatry 2024
A systematic review of pharmacogenetic testing to guide antipsychotic treatment.
Noushin Saadullah Khani et al. Nat Ment Health 2024 2(5) 616-626
Cost-effectiveness analysis of CYP3A5 genotype-guided tacrolimus dosing in solid organ transplantation using real-world data.
Kimberly M Deininger et al. Pharmacogenomics J 2024 24(3) 14
Genomics and insurance in the United Kingdom: increasing complexity and emerging challenges.
Padraig Dixon et al. Health Econ Policy Law 2024 1-13
Clinical actionability of BRCA2 alterations in uterine leiomyosarcoma: a molecular tumor board case report and a cBioPortal comprehensive analysis.
Luca Boscolo Bielo et al. Oncologist 2024
Clinical Practice Patterns in Sickle Cell Disease Treatment: Disease-Modifying and Potentially Curative Therapies.
Luisanna M Sánchez et al. J Pediatr Hematol Oncol 2024
Economic Evaluation of HLA-B*15:02 Genotyping for Asian Australian Patients With Epilepsy.
Yaron Gu et al. JAMA Dermatol 2024
Healthcare utilization and behavior changes following workplace genetic testing at a large U.S. healthcare system.
Elizabeth Charnysh et al. Genet Med 2024 101160
Evinacumab and Cardiovascular Outcome in Patients With Homozygous Familial Hypercholesterolemia.
Sophie Béliard et al. Arterioscler Thromb Vasc Biol 2024
Pharmacogenomic Clinical Support Tools for the Treatment of Depression.
Matthew L Baum et al. Am J Psychiatry 2024 appiajp20230657
Clinician perspectives regarding CYP2C19 genotype testing in patients with critical limb ischemia: A Delphi approach.
Christopher Regan et al. Vascular 2024 17085381241246318
Do future healthcare professionals advocate for pharmacogenomics? A study on medical and health sciences undergraduate students.
Hanan Al-Suhail et al. Front Pharmacol 2024 151377420
Enhancing clinical decision support with genomic tools in breast cancer: A Scottish perspective.
A L Peters et al. Breast 2024 75103728
Recommendations for pharmacogenetic testing in clinical practice guidelines in the US.
Daniel L Hertz et al. Am J Health Syst Pharm 2024
Advanced practice nurse pharmacogenomics capacity and utilization.
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.
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.
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.
Sylvia Nabukenya et al. PLoS One 2024 19(4) e0299081
A New Cloud-Native Tool for Pharmacogenetic Analysis.
David Yu Yuan et al. Genes (Basel) 2024 15(3)
Implementation of CYP2C19 and CYP2D6 genotyping to guide antidepressant use in a large rural health system.
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.
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.
Romain Boidot et al. Eur J Cancer 2024 202113978
Clinical pharmacists' knowledge, attitude, perception, and beliefs about the role of pharmacogenetic testing for genes polymorphisms when prescribing mercaptopurine.
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.
Maike Scherf-Clavel et al. World J Biol Psychiatry 2024 1-11
Real-World Data and Clinical Implications of Next-Generation Sequencing (NGS)-Based Analysis in Metastatic Breast Cancer Patients.
Fabio Canino et al. Int J Mol Sci 2024 25(5)
Empowering personalized pharmacogenomics with generative AI solutions.
Mullai Murugan et al. J Am Med Inform Assoc 2024
Exploring the impact and utility of genomic sequencing in established CKD.
Julia Jefferis et al. Clin Kidney J 2024 17(3) sfae043
The cost-effectiveness of germline BRCA testing-guided olaparib treatment in metastatic castration resistant prostate cancer.
Srinivas Teppala et al. Int J Technol Assess Health Care 2024 40(1) e14
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing.
Callan Russell et al. Clin Transl Sci 2024 17(3) e13737
A survey on awareness, knowledge and preferences toward genetic testing among the United States general public.
Shahariar Mohammed Fahim et al. Per Med 2024
Contemporary lipid-lowering management and risk of cardiovascular events in homozygous familial hypercholesterolaemia: insights from the Italian LIPIGEN Registry.
Laura D'Erasmo et al. Eur J Prev Cardiol 2024
Impact on costs and outcomes of multi-gene panel testing for advanced solid malignancies: a cost-consequence analysis using linked administrative data.
Alberto Hernando-Calvo et al. EClinicalMedicine 2024 69102443
PillHarmonics™: An Orchestrated Pharmacogenetics Medication Clinical Decision Support Service.
Robert H Dolin et al. Appl Clin Inform 2024
A Bayesian approach for investigating the pharmacogenetics of combination antiretroviral therapy in people with HIV.
Wei Jin et al. Biostatistics 2024
Opportunities for Pharmacogenetic Testing to Guide Dosing of Medications in Youths With Medicaid.
Sonya Tang Girdwood et al. JAMA Netw Open 2024 7(2) e2355707
An update review of new therapies in sickle cell disease: the prospects for drug combinations.
Sanne Lugthart et al. Expert Opin Pharmacother 2024
Genetic and non-genetic predictors of risk for opioid dependence.
Peter J Na et al. Psychol Med 2024 1-8
Using Machine Learning to Determine a Suitable Patient Population for Anakinra for the Treatment of COVID-19 Under the Emergency Use Authorization.
Liu Qi, et al. Clinical pharmacology and therapeutics 2024 0 0.
Assessing the utility of measurement methods applied in economic evaluations of pharmacogenomics applications.
Vasileios Fragoulakis et al. Pharmacogenomics 2024
Measuring Costs of Cardiovascular Disease Prevention for Patients with Familial Hypercholesterolemia in Administrative Claims Data.
Lauren E Passero et al. High Blood Press Cardiovasc Prev 2024
Modeling health outcomes associated with BRCA testing and treatment strategies for patients with metastatic pancreatic cancer.
Neeharika Agnihotri et al. Pancreatology 2024
Use of drugs with pharmacogenomics (PGx)-based dosing guidelines in a Danish cohort of persons with chronic kidney disease, both on dialysis and not on dialysis: Perspectives for prescribing optimization.
Niels Westergaard et al. Basic Clin Pharmacol Toxicol 2024
Effects of Social Determinants and Pharmacogenetic Medication Interactions on 90-Day Hospital Readmissions.
Sean David et al. Ann Fam Med 2024 21(Suppl 3)
Implementation of clopidogrel pharmacogenetic clinical decision support for a preemptive return of results program.
Christina L Aquilante et al. Am J Health Syst Pharm 2024
Next-generation sequencing in pharmacogenomics - fit for clinical decision support?
Yitian Zhou et al. Expert Rev Clin Pharmacol 2024
The landscape of the methodology in drug repurposing using human genomic data: a systematic review.
Lijuan Wang et al. Brief Bioinform 2024 25(2)
Therapeutic Drug Monitoring and Pharmacogenetic Testing as Guides to Psychotropic Drug Dose Adjustment: An Observational Study.
Elodie Cuvelier et al. Pharmaceuticals (Basel) 2024 17(1)
Building a vertically integrated genomic learning health system: The biobank at the Colorado Center for Personalized Medicine.
Laura K Wiley et al. Am J Hum Genet 2024 111(1) 11-23
Implementing HLA-B*58:01 testing prior to allopurinol initiation in Malaysian primary care setting: A qualitative study from doctors' and patients' perspective.
Wei Leik Ng et al. PLoS One 2024 19(1) e0296498
Modern approaches to the management of homozygous familial hypercholesterolemia in the Middle East and North Africa.
Abdullah Al-Ashwal et al. J Clin Lipidol 2023
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About PGx PHGKB
PGx PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to medications....more
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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.
- Page last reviewed:Feb 1, 2024
- Page last updated:May 30, 2024
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