It has been 10 years since the publication of the first draft of the sequence of the human genome. This 13 year-3 billion dollar project was expected by some to immediately result in new insights and potential cures for genetic disease as well as an era of new therapeutics based on individual differences in DNA among people (personalized medicine).  For the most part, these have been slow to develop, raising the question as to whether the human genome project was worthwhile.  It has become clear however, that we will not be able to fully appreciate the significance of the Human Genome Project until the sequences of many groups of people are compared and the significant differences are better understood.  The most surprising aspect of the project has been the degree of genetic diversity seen in the genome sequence in humans.  It is these differences that account for the variable contribution of genes to disease as well as susceptibility of people to infections or cancer and individual response to medications.  As the cost of routine gene sequencing continues to decline, we are moving closer to the day when one’s own individual genetic variations will become an intrinsic part of a “personalized” approach to medical care finally achieving the promise of genomic medicine.

Learning objectives:

To examine the improvements in DNA sequencing technology which have allowed individual genomes to be sequenced more rapidly and with less cost.

To evaluate how DNA sequence information will change the classical approach of disease elucidation with a “genome first” approach.

To appreciate the ways in which genomic medicine will alter preventative health care as well as treatments for cancer and infectious diseases.

See-H. Stern’s Presentation-Achieving-the-Promise-of-Genomic-Medicine