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The concept of personalized medicine.

The advent of rapid, affordable genetic tests to help determine a person's risk for developing a disease has made the concept of personalized medicine--where medical treatment is tailored to an individual based on his or her genes--a clinical reality For example, a study is underway here at the University of Maryland to see if prescribing anticlotting therapy based on a patient's genetic information will result in better outcomes after cardiac stenting: Most recently, the results of a genetic test and a family history of breast cancer led actress Angelina Jolie to undergo a preventive double mastectomy. The growth of sequencing technologies represents a major shift in medical practice and has dramatically changed how physicians approach patient care.

Genetic testing also has transformed the field of maternal-fetal medicine. Only a few decades ago, obstetricians had little access to the developing fetus. At a fast pace, innovations and technological advances brought us the fetal heart rate monitor, noninvasive ultrasound, embryoscopy and fetoscopy, and, more recently, methods to measure maternal biochemical analytes as a means to assess the developing infant's health. Today, we can now add genetic screening to our toolkit for determining the health of an unborn baby and to identify potential interventions before birth.

As genetic screening during preconception and prenatal care becomes virtually the standard of care, the field of prenatal evaluation also evolves. In the past, we had few options to treat the fetus, but these new diagnostic approaches give us the opportunity to treat the fetus in a more comprehensive way. It is essential for practitioners to become well versed in the variety of screening options available--and the limitations of these technologies--as well as to understand how to use this new information to inform and counsel patients. Therefore, we are devoting this Master Class to a discussion of universal carrier screening.

We have invited Dr. Ronald J. Wapner, who is serving on a work group developing practice guidelines on the use of expanded carrier screening panels, to address the issues surrounding this technology. Dr. Wapner is a professor in the department of obstetrics and gynecology at Columbia University Medical Center, New York, and is recognized as an expert in reproductive genetics. Recently, Dr. Wapner led a landmark study which demonstrated that chromosomal microarrays were superior to standard karyotyping to identify potential disease-causing genetic defects during prenatal examination (N. Engl. J. Med. 2012;367:2175-84). This study is expected to result in revised guidelines for prenatal diagnosis by invasive testing, including the recommendation that chromosomal microarrays be used in first-line testing.

Caption: DR. REECE


Dr. Reece, who specializes in maternal-fetal medicine, is vice president for medical affairs at the University of Maryland, Baltimore, as well as the John Z. and Akiko K. Bowers Distinguished Professor and dean of the school of medicine. Dr. Reece said he has no relevant financial disclosures. He is the medical editor of this column. Contact him at

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Title Annotation:MASTER CLASS
Author:Reece, E. Albert
Publication:OB GYN News
Geographic Code:1USA
Date:Nov 1, 2013
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