Explore this JAMA essay series explaining the genetic concepts and technologies underlying precision medicine to help clinicians make smarter decisions for their patients.
This cross-sectional study assesses potential opportunities for genotype-guided prescribing in pediatric populations among multiple health systems by examining the prevalence of prescriptions for each drug with the highest level of evidence and estimating the prevalence of potentially actionable prescribing decisions.
This cohort study evaluates the suitability of including pathogenic copy number variants associated with neuropsychiatric disorders in population screening by determining their prevalence and penetrance and exploring the personal utility of disclosing results.
This Genomics and Precision Health article explains how genetic testing is used to identify the probable geographic origins of one’s ancestors and how it can aid in risk assessment for some heritable conditions, and summarizes the contexts in which its information provides clinically relevant information.
This phase 2 trial evaluates the coprimary end points of margin-negative (R0) resection rates and pathologic response grades of gFOLFIRINOX (fluorouracil, leucovorin, oxaliplatin, and UGT1A1 genotype-directed irinotecan) therapy among patients with locally advanced gastroesophageal adenocarcinoma.
This cross-sectional study uses data from clinical trials to identify optimal strategies for combining programmed cell death 1 (PD-1) checkpoint inhibitors with other cancer therapies for patients with cancer who do not respond to PD-1 inhibitor monotherapy.
This Genomics and Precision Health update explains the importance of large and diverse reference populations in human genome databases to more accurately report allele frequencies of rare variants.
This Genomics and Precision Health article explains the use and interpretation of polygenic risk scores for determining disease risk and emphasizes the gap between widespread availability of direct-to-consumer (DTC) genetic testing and the near absence of evidence validating the scores in clinical populations and demonstrating associations with the ability to improve clinical outcomes via interventions.
This diagnostic study examines next-generation sequencing technologies and their application to the molecular profiling of refractory or relapsed cancers in children and adolescents.
This cross-sectional diagnostic study evaluates the accuracy of a machine learning method that uses the whole transcriptome to identify gene markers in primary and metastatic tumors.
This JAMA Genomics and Precision Health article explains how next-generation sequencing can be used to identify pathogens and provide insights into disease transmission, virulence, and antimicrobial resistance.
This Viewpoint about heritable genome editing–the modification of DNA of an embryo, sperm, or egg to alter its characteristics for future generations–summarizes the 2018 Nuffield Council on Bioethics report on social and ethical issues raised by the technique, and questions its rejection of a distinction between gene editing for therapeutic vs feature enhancement purposes.
This Genomics and Precision Health article reviews clinical applications of tumor DNA sequencing to direct treatment of melanoma and of myeloid, lung, and colorectal cancers.
This JAMA Insights article explains how precision health, which uses mechanistic insights to treat individual patients based on their unique abnormalities, can treat variants causing cystic fibrosis.
This JAMA Insights article explains cell-free circulating tumor DNA and its utility in noninvasive cancer detection and characterization, prediction of treatment response, monitoring of disease relapse, and identification of mechanisms of resistance to targeted therapies.
This JAMA Insights article explains how preimplantation genetic diagnosis can help reduce the risk of inherited genetic conditions among newborns.
This JAMA Insights article explains process of cascade screening for familial hypercholesterolemia and its efficacy in reducing risk of atherosclerotic cardiovascular disease.
This Genomics and Precision Health article discusses the advantages of chromosomal microarray analysis over G-banded karotyping for evaluating neurodevelopmental disorders in children.
This Genomics and Precision Health essay discusses the risks and potential benefits of performing genome sequencing in healthy people.
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