This observation trial reports that whole-exome sequencing provides a potential molecular diagnosis for patients referred for evaluation of suspected genetic conditions, including detection of rare genetic events and new mutations, contributing to disease.
Lee and coauthors report on initial clinical indications for clinical exome sequencing referrals and molecular diagnostic rates for different indications and for different test types.
This cohort study of patients with poor prognosis cancer receiving hospice care vs those who do not reports lower rates of hospitalization, intensive care unit admission, and invasive procedures at the end of life, along with significantly lower total costs during the last year of life.
This retrospective study found that Tdap vaccination during pregnancy was not associated with increased risk of hypertensive disorders preterm or small-for-gestational age births.
This Viewpoint discusses the issues involved in granting insurance companies access to consumers’ genetic information.
This Viewpoint discusses an approach to reimbursement and coding challenges posed by next-generation genomic sequencing techniques.
This Viewpoint examines the infrastructure and quality of health systems in West Africa against the backdrop of the Ebola outbreak.
This Viewpoint discusses data about consultants becoming available to referring physicians and patients in an effort to improve the selection of specialists.
This Editorial discusses possible contributions of genomic sequencing to progress in clinical care, from molecular diagnosis to improved outcomes.
This Review article concludes that the mainstay of syphilis treatment is parenteral penicillin G despite the relatively modest clinical trial data that support its use.
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