This JAMA Insights article explains how preimplantation genetic diagnosis can help reduce the risk of inherited genetic conditions among newborns.
This case series of patients with advanced cancer evaluates the proportion and potential clinical implications of inherited variants detected using DNA sequencing of tumor and normal tissue compared with genetic test results based on current guidelines.
This JAMA Insights article explains process of cascade screening for familial hypercholesterolemia and its efficacy in reducing risk of atherosclerotic cardiovascular disease.
This Viewpoint discusses the 2017 National Academies of Sciences, Engineering, and Medicine (NASEM) report on improving the system of evaluation of genetic testing so that implementation of genomic medicine in clinical settings can be evidence-based.
This Genomics and Precision Health article discusses the advantages of chromosomal microarray analysis over G-banded karotyping for evaluating neurodevelopmental disorders in children.
This Viewpoint proposes that standards for interpretation of genetic variants be expanded to include protective as well as pathogenic variants and stresses the importance of considering protective variants for assessing disease risk and guiding clinical decision making.
This survey study describes patients’ desire for and use of genetic counseling and testing after a new diagnosis of breast cancer.
This study uses gene frequencies from an expanded carrier screening program of reproductive-aged adults of multiple racial backgrounds and ethnicities to estimate the rates of children identified as being at risk for severe genetic disease.
This Viewpoint discusses sharing the underlying data of genetic testing to develop more precise disease risk estimates and understand whether physicians should act on them.
This Viewpoint discusses potential drawbacks of regulation meant to to ensure the quality, safety, and validity of laboratory-developed diagnostic tests.
This Viewpoint discusses the need for regulation meant to ensure the quality, safety, and validity of laboratory-developed diagnostic tests.
This randomized trial reports less prenatal testing and more informed choices among pregnant women with access to a computerized, interactive, decision-support guide and access to prenatal testing with no out-of-pocket expenses vs those receiving care per current guidelines.
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