Genomics and Precision Health

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 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.