As has been discussed previously in this column, the Food and Drug Administration label for clopidogrel now carries a black box warning about reduced efficacy in patients with diminished activity of the CYP450 enzyme 2C19.

Clopidogrel is a prodrug that needs to be converted to an active metabolite in order to inhibit platelet function. CYP2C19 is involved... »

Since the discovery of the cystic fibrosis transmembrane conductance regulator gene in 1989, the promise of a targeted treatment for cystic fibrosis, the most common lethal genetic disease of Caucasians, has seemed within reach. The public and at least a generation of medical students heard the message that fixing the underlying defect, perhaps by gene... »

Technical aspects and costs have limited the use of personal genome analysis and whole genome sequencing to major research institutions and large clinical collaborations. However, these barriers are falling quickly and a critical tipping point is being reached whereby such analyses will soon start emerging into clinical care.

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The prevalence of end-stage renal disease is four times higher in African Americans than it is in European Americans. When I was an internal medicine resident in the late 1980s, I recall receiving several somewhat vague explanations as to why this was the case, basically suggesting that it was multifactorial, but that it could most often be blamed on... »

As the incidence of Alzheimer's disease rises and genetic risk factors become better understood, patients are increasingly requesting genetic testing for risk assessment. Such testing is generally not recommended, since the results usually cannot definitively determine whether or not someone will develop AD, and because there are no clinically proven... »

Intellectual disability is a diagnosis defined by impaired cognitive and adaptive function with an onset of findings before 18 years of age. Historically, the condition has been referred to as "mental retardation" (the preferred terms nowadays are "intellectual disability" or "cognitive disability"). It is a common condition,... »

The Internet revolution has had a seismic impact on how people interact, connect, and conduct research. The Internet and the Web are responsible for generating an information age in which anyone is a simple online search away from being a self-reported expert on a topic. Who among us has not had a patient present an article on a particular symptom, medical... »