Substantial advances in genetic and genomic testing mean that a greater variety of rare genetic and chromosomal disorders can be diagnosed, risk of common disorders can be estimated, and drug treatment can be tailored to individual needs. Korf and Rehm describe how physicians can recognize where new approaches to genetic and genomic testing may be applied clinically.
To determine the spectrum and prevalence of mutations in 3 genes that are most long QT syndrome susceptible, Crotti and coauthors conducted a retrospective postmortem genetic testing analysis on 91 unexplained intrauterine fetal deaths in the United States and Italy.
To identify genetic variants associated with late-onset Alzheimer disease in African Americans, Reitz and coauthors performed a genome-wide association study using data sets representing 5896 African Americans 60 years or older. Nussbaum provides comment in the related Editorial.
Xing and coauthors conducted a retrospective study among 1849 patients in 7 countries to investigate the relationship between the BRAF V600E mutation and mortality related to papillary thyroid cancer. In an editorial, Cappola and Mandel discuss molecular testing in thyroid cancer.
Loman and coauthors report on a culture-independent sequence-based metagenomics approach to the investigation of an outbreak of Shiga-toxigenic Escherichia coli O104:H4. In an accompanying Editorial, Relman discusses metagenomics, infectious disease diagnostics, and outbreak investigations.