Personal Genomic Medicine: How Physicians Can Adapt to a Genomic World

Saturday, February 16, 2013
Room 203 (Hynes Convention Center)
Mira Irons , Children’s Hospital Boston, Boston, MA
The $1000 genome has finally arrived and, along with it, the possibility of utilizing next-generation sequencing technology in the clinical care of patients, i.e. personal genomic medicine.  This technology clearly has the ability to lead to improved diagnostic capability, the development of molecularly-targeted therapies, and guidance of pharmacologic therapy by information obtained from pharmacogenomic panels.  However, while this new technology will provide useful information that is interpretable and clinically valid, it is likely that we will not initially be able to interpret much of what we “see” leading to confusion, uncertainty, and the need to recontact patients and families over time.  In addition, issues having to do with disclosure of incidental or secondary findings may be unclear.   While medical geneticists have been preparing for this time and have the necessary understanding of the issues involved in the area of personal genomics, education of the non-genetic health care workforce will need to be implemented.