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ASHG Conference Enters the Genomic Era

LOS ANGELES, Nov. 6 (GenomeWeb News) - The availability of finished human genome sequence data has catapulted the American Society of Human Genetics into a new era.


While presentations at past year's meetings focused on research into monogenic disorders and paid little heed to genomics, the society's 53rd annual meeting, which is taking place here this week, has genomics written all over it. Sessions include: "the Genome and Evolving Public Policy;" "a Comprehensive Genomics Approach to Complex Diseases in Heart, Lungs, Blood and Sleep;" a plenary on the Cancer Genome Project and a symposium on "the Future of Genomics and Genetics" hosted by Francis Collins and featuring a talk by Eric Lander.


"The genome challenges us not to think just about rare diseases," said Joann Boughman, executive vice president of ASHG. "We're not just working with the zebras anymore."


Posters at the exhibit attest to that. While research into rare disorders -- Kearns-Sayre, Waardenburg syndrome, Johnson McMillin syndrome, and Okihiro syndrome, to name a few -- gets its share of coverage, a genomics section includes 146 posters this year. Topics such as "an HMM model for scoring peptides against tandem mass spectrometry data" and "a model of measurement error for shotgun sequencing" are likely firsts for many in this audience.    


During his opening address, ASHG president David Valle noted that all scientists seem to think their own era is the one during which history is being made. But these truly are "terrific times" for genetic scientists, he said. With 1,500 disease genes listed in OMIM and more than 1,000 diseases with diagnostic tests in GeneTests, Valle said the field is approaching an age when health care practitioners will be able to intervene before patients develop diseases.


Acknowledging that many unknowns regarding individual genetic variability and non-genetic factors that contribute to disease remain to be solved before clinical genomic profiling is ready for prime-time, Valle also noted that the field of genetics has been on this path since as far back as 1908 when Archibald Garrod wrote about the inborn errors of metabolism and, later recognized individual variations in chemical behavior. In later remarks to the press, Valle said that "complexity is such that individualized medicine is a tall order."

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