As generalists or subspecialists, pediatricians are often faced with counseling families of children with genetic disorders. The complexity of the field of genomics is ever-evolving as is the terminology. The article by Connolly and Hakonarson (doi: 10.1542/peds.2011-3636) provides a comprehensive overview of the field to help all providers understand the various techniques available and their limitations. Various examples are provided such as use of these techniques for better understanding of asthma, autism and inflammatory bowel disease. Cost considerations are also provided. Overall, understanding genetic variation and its determinants will allow for the development of therapeutic interventions in the hopefully not too distant future.
Wednesday, May 9, 2012
Posted by Dr. Lewis R. First at 12:01 AM