JAMA Clinical Reviews

Clinicians can now sample DNA from in vitro blastocysts to identify embryos with genetic abnormalities and avoid implanting them. This genetic screening allows couples who carry dangerous genetic diseases to avoid having children with those diseases. Interviewees: Siobhan M. Dolan, MD, Tamar H. Goldwaser, MD, and Sangita K. Jindal, PhD Links discussed in this episode: Preimplantation Genetic Diagnosis for Mendelian Conditions  

Some drugs and devices receive accelerated approval from the FDA in order to provide potentially important treatments for patients when effective therapies may not be available. These drugs or devices are supposed to have postmarketing studies to definitively show their efficacy or safety, but sometimes this doesn't happen. Rita F. Redberg, MD, MSc, Aaron S. Kesselheim, MD, JD, MPH, and Robert M. Califf, MD, discuss their articles characterizing studies used for the approval of high-risk medical devices and accelerated approval of drugs by the FDA. Discussed in this podcast: FDA Online

Scott Grundy, MD, PhD, is a professor of medicine at UT Southwestern in Dallas and is one of a small group of investigators who saved statins from being dumped as a potential drug class. Dr Grundy tells the story of how studying patients with familial hypercholesterolemia unraveled the mysteries of high cholesterol levels. This resulted in the development of very effective drugs to treat any patient with high cholesterol. Familial hypercholesterolemia is fairly common and when patients have very high cholesterol levels they and their families should undergo cascade screening. Interviewees: Scott M. Grundy, MD, PhD, and author Joshua W. Knowles, MD, PhD Links discussed in this episode: Cascade Screening for Familial Hypercholesterolemia and the Use of Genetic Testing Dietary Guidelines for Americans Interview with Karen DeSalvo, MD, MPH, MSc, author of Dietary Guidelines for Americans

Asthma often develops in childhood but also affects a significant number of adults. It can present in various ways and with varying degrees of severity. William J. Calhoun, MD, of the University of Texas Medical Branch, Galveston, discusses the approach to diagnosis and provides tips for management of this common condition.

Following placement of cardiac stents, patients receive dual antiplatelet therapy (DAPT) to prevent stent thrombosis. Prevention of thrombosis is offset by a risk of bleeding. The optimal balance between thrombosis prevention and bleeding risk is not always known. How to go about optimizing DAPT therapy is discussed by Glen Levine, MD, professor of medicine at Baylor College of Medicine in Houston, Texas, and chair of the combined American College of Cardiology/American Heart Association Guideline Committees.

Allergy to penicillin is one of the most commonly reported allergies by patients. In reality, true penicillin allergy is uncommon. Dr. Elizabeth Phillips from Vanderbilt University discusses her experience with testing for penicillin allergy in patients who thought they had this problem.

Chromosomal microarray technology (CMA) facilitates the genetic diagnosis of intellectual disabilities, autism spectrum disorder, and congenital abnormalities in children. Previously, G-band karyotyping was the test performed for this purpose but it could only identify very large chromosomal abnormalities and was not very sensitive. Being a molecular rather than microscopic technique, CMA is far more sensitive for identifying genetic abnormalities and is now the test of choice. We interview David H. Ledbetter, MD, and Christa Lese Martin, PhD, from Geisinger Health System, authors of this JAMA Insights article. Articles discussed in this episode: Chromosomal Microarray Testing for Children With Unexplained Neurodevelopmental Disorders New Approaches to Molecular Diagnosis

Multiple guidelines have been issued regarding how aggressively cholesterol should be managed. These guidelines do not agree with one another and the most significant area of disagreement is in recommendations for high intensity statin therapy. In this podcast we discuss this issue with a number of experts in the field to help better understand how high-intensity statin therapy might be applied to patient care.

Depression is very common in old age. Because it is associated with many issues related to aging such as having diabetes, hypertension, and other diseases and also the general ability to do less than when a person was younger, it is often assumed that depression is just part of the aging process. Inadequate treatment is often given for depression, frustrating patients and clinicians. However, aggressive depression treatment in elderly individuals can be very successful and greatly improve an older person’s quality of life. PHQ-9 USPSTF recs JAMA Patient Page on Screening for Depression

Whole-genome sequencing is now easily done for very little cost. It is not known how to interpret the results of this testing. It is inadvisable for healthy individuals to undergo routine whole-genome sequencing but if someone has a reason to suspect a particular disease known to be associated with a unique gene, then targeted genetic sequencing is reasonable. Interviewee: James P. Evans, MD, PhD, from the University of North Carolina at Chapel Hill.