Thursday, January 26, 2012

The promise of genetic diagnosis for children at Arab Health

Our delegation to the Arab Health Congress also included Marshall Summar, MD, Division Chief of Genetics and Metabolism at Children’s National. Both Dr. Summar and Dr. Kim were featured at the 5th Middle East Paediatrics Congress.

Dr. Summar discussed how the development of new technologies in biochemistry, DNA microarrays, and genetic sequencing have greatly expanded the diagnostic reach and scope of genetics. He also noted, however, that while these analyses have come a long way, they still have a long way to go to live up to their full promise: the idea that drilling down into the genetic causes of disease will allow us to immediately “personalize” treatments based on each person’s unique genetic makeup.

For Dr. Summar, a world renowned geneticist, there is much to be excited about in the world of analyzing and understanding how genetics plays a role in disease. At the same time, though, he cautioned pediatricians about perceiving that genetic analysis, in its current state, will be a one size fits all solution for families who must live with disorders caused by their genetics.

While we may be able to drill deeper than ever before and generate more information about a specific disorder based on new genetic technologies, he said, “identifying the underlying disease or cause does not mean we already have a cure or treatment for it.”