Genetic and Genomic Competency in Medical Practice

The principles of Mendelian and molecular genetics have long had a place in the preclinical medical curriculum, but clinical applications of genetics have been barely visible in the clinical training of medical students, residents, and postgraduates. Undoubtedly this absence reflected a perception that the focus of medical genetics is rare disorders, so most medical professionals could get by with minimal exposure to the discipline. Since completion of the sequencing of the human genome, the power of the genetic-and now the genomic-approach has increased enormously, providing new tools to diagnose and even treat both rare and common genetic conditions. Those at all levels of training must now gain competency in a complex and continually evolving area. I will try to set forth some principles that may be helpful in navigating this new area. Principles 1. Focus on competencies, not knowledge. The genome can be a source of endless fascination-how is it possible to encode all of the information necessary for a human to develop in three billion bits of information that can be folded into a microscopic structure?-and the technology is dazzling-how is it possible to decode this information in a matter of days (soon, hours)? The practicing physician, however, is not going to be sequencing the genome or interpreting the raw data any more than he or she now analyzes raw data from blood work or MRI scans

Bioethics · Biology · Computational biology · Engineering ethics · Family medicine · Genetic testing · Genomic medicine · Medical ethics · Medical genetics · Medical practice · Psychiatry · BRCA gene mutations in cancer · Engineering · Medicine · Nutrition, Genetics, and Disease · Genetics · Internal Medicine