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To examine the diagnostic yield of clinical whole-exome sequencing in patients with suspected genetic disorders, Yang and colleagues analyzed exome sequencing data from 2000 consecutive patients referred for such evaluation. The authors report that whole-exome sequencing provided a potential molecular diagnosis for 25% of the patients and included detection of rare genetic events and recently identified mutations. In an Editorial, Berg discusses the value of molecular diagnosis for patients and their families.
Editorial and Related Article
Continuing Medical Education
Lee and colleagues assessed molecular diagnostic rates of clinical exome sequencing in a cohort of 814 consecutive patients with undiagnosed, suspected genetic disorders—including 410 patients whose parents also had clinical exome sequencing (trio-CES). The authors report the overall molecular diagnostic rate was 26%. Trio-CES was associated with a higher molecular diagnostic yield than proband sequencing alone.
In a case-control study involving 36 330 Medicare beneficiaries with poor-prognosis cancers, Obermeyer and colleagues compared health care use and costs among patients enrolled with those not enrolled in hospice. The authors report that receipt of hospice care was associated with lower rates of hospitalization, intensive care unit admission, and invasive procedures at the end of life and lower total health care costs during the last year of life. In an Editorial, Teno and Gozalo discuss transparency and accountability in policies regarding end-of-life care.
Author Video Interview
Kharbanda and colleagues assessed the safety of the tetanus toxoid, reduced diphtheria toxoid, and acellular pertussis vaccine (Tdap) during pregnancy in a retrospective cohort of 123 494 women, among whom 26 229 received Tdap during pregnancy. The authors report that receipt of Tdap during pregnancy was not associated with increased risk of hypertensive disorders of pregnancy or preterm or small-for-gestational age births. A small increased risk of chorioamnionitis was observed.
Treatment regimens for syphilis are controversial, particularly in certain patient populations such as pregnant women and patients with neurosyphilis or human immunodeficiency virus infection. Clement and colleagues report results of a systematic review of the evidence regarding penicillin and nonpenicillin treatment regimens from studies involving 11 102 patients. The authors conclude that parenteral penicillin G is the treatment of choice despite relatively modest clinical trial data that support its use.
An article in JAMA Pediatrics reported that depictions of healthful foods—specifically apples and milk—in fast-food television advertisements from 2 popular restaurants are often misinterpreted by children. In this From the JAMA Network article, Grow and Schwartz discuss strategies to reduce unhealthful food marketing to youth.
The Advisory Committee on Immunization Practices (ACIP) recommends the human papilloma virus (HPV) vaccine for girls and women aged 11 through 26 years and boys and men aged 11 through 21 years. This JAMA Clinical Guidelines Synopsis article by Davis and Cifu summarizes the evidence supporting the 2014 ACIP HPV vaccine recommendations, benefits and harms associated with vaccine receipt, and areas in need of study.
This JAMA Diagnostic Test Interpretation article by Hicks and Clement presents the case of a 45-year-old man who is being seen for follow-up after an emergency department evaluation for dysuria and treatment for gonococcal urethritis. He reports the dysuria has resolved and his physical examination is normal. Serologic screening for other sexually transmitted infections is performed. Both the rapid plasma reagin test and Treponema pallidum enzyme immunoassay are reactive. How would you interpret these results?
Highlights. JAMA. 2014;312(18):1831-1833. doi:10.1001/jama.2013.279823