Carrier screening for genetic diseases can prevent severe untreatable disorders; however, the implications of screening for less serious and treatable diseases has not received much attention. In an analysis of carrier screening for Gaucher disease among Ashkenazi Jewish couples in Israel, Zuckerman and colleaguesArticle assessed the scope and process of screening and screening outcomes, including use of prenatal diagnosis and pregnancy terminations. The authors report that among an estimated 28 893 individuals who were screened in an 8-year period, 83 carrier couples were identified. Among 65 couples at risk for offspring with Gaucher disease and interviewed by the authors, prenatal diagnosis was performed in 68 of 90 pregnancies, 16 fetuses with Gaucher disease were identified, and 4 couples chose to terminate the pregnancy. In an editorial, BeutlerArticle discusses phenotypic variability associated with many single-gene diseases and the implications for screening and clinical and personal decision making.
Heart failure and sudden death are common among patients with end-stage renal disease (ESRD). In a randomized trial comparing the effects of frequent (6 times per week) nocturnal hemodialysis vs conventional hemodialysis (3 times per week) on left ventricular mass and quality of life in 52 patients with ESRD, Culleton and colleaguesArticle found that patients who received frequent nocturnal hemodialysis had reductions in left ventricular mass and blood pressure and improvement in some measures of mineral metabolism and quality of life during 6 months of follow-up. In an editorial, KligerArticle discusses the relationship of dialysis dose and duration to patient outcomes and particular challenges in conducting clinical trials involving patients with ESRD.
To address possible publication bias in prior assessments of the association of apolipoprotein E (apoE) genotypes with lipid levels and coronary risk, Bennet and colleagues conducted an updated meta-analysis, which specifically focused on large studies with sufficient participants to assess the relationships by genotype frequency, lipid levels, and coronary outcomes. Examining the apoE genotypes in the order ε2/ε2, ε2/ε3, ε2/ε4, ε3/ε3, ε3/ε4, ε4/ε4, the authors found approximately linear relationships of the apoE genotypes with low-density lipoprotein cholesterol levels and coronary risk, a weak inverse association with high-density lipoprotein cholesterol, and a nonlinear relationship with triglycerides. Compared with the most common genotype ε3/ε3, ε2 carriers had a lower risk of coronary heart disease and ε4 carriers had a slightly higher risk.
Amiodarone is approved by the US Food and Drug Administration for patients with refractory ventricular arrhythmias, but in practice, amiodarone is one of the most frequently prescribed antiarrhythmic medications in the United States. Vassallo and Trohman conducted a systematic literature review to evaluate and synthesize the evidence regarding the optimal use of amiodarone for various arrhythmias.
“Like other residents, I had my share of scary as well as exhilarating moments during my first months of internship.” From “Ghosts.”
Hospitals are embracing palliative care, which can be delivered along with curative or life-prolonging therapies, as a way to improve patient satisfaction and reduce the costs of treatment for an aging population with complex health problems.
Elements of an effective technology and outcomes assessment initiative.
Benefits of greater public education and engagement about the nature of science and scientific evidence.
Join Romsai T. Boonyasai, MD, MPH, on October 17 from 2 to 3 PM eastern time to discuss effective teaching of quality improvement concepts. To register, go to http://www.ihi.org/AuthorintheRoom.
Dr DeAngelis summarizes and comments on this week's issue. Go to http://jama.ama-assn.org/misc/audiocommentary.dtl
For your patients: Information about Gaucher disease.
This Week in JAMA . JAMA. 2007;298(11):1253. doi:10.1001/jama.298.11.1253