SAN DIEGO, Oct. 15 – In his address at the 2001 American Society of Human Genetics meeting here on Saturday, Huntington Willard, the group’s president, described the bridge connecting basic science with medicine as “black boxes,” and called them “the uncertainty that surrounds research” that must be overcome if genetic understanding can be applied to medicine.
For biotech companies and other organizations that build and deliver genomics technology, the black box is the reason for their existence. GenomeWeb polled exhibitors at the meeting, which ends on Tuesday, to uncover the contents of theirs:
“Trying to reproduce multi-protein complexes and interactions in vitro,” said James LeBlanc, senior field scientist at Ciphergen .
“Outcome studies,” said Alan Guttmacher, senior clinical advisor to the director, National Human Genome Research Institute . “We need outcomes studies to know the facts about the basic science and how it changes outcomes. As we move from basic science to clinical care, we will make assumptions; some of them will be wrong. We need to prove this new medicine.”
“We’ve got a pretty good view of the genome, but it’s still a black box,” offered John Smutko, applications scientist at DoubleTwist . “We’re still trying to bring the genome out and forward. [And] adding proteomics, adding more functional data.”
Cynthia Gregory, product marketing manager at Gene Logic , said that researchers must “go in silico , beyond the wet lab. [And] acceptance of biotechnology genetics by people in the genetics field.”
“Better communication between scientists and biotechnology,” suggested Camilla Heinzmann, laboratory training manager at Qiagen . “We need to open communication more.”
“The only way to get to medically valuable information is to do billions to trillions of experiments; SNP genotyping, expression profiling, proteomics,” said John Stuelpnagel, vice president of business development, Illumina .
“You have to demonstrate a correlation between utility of SNPs and application,” added Robert O’Fee, director of business development, Orchid BioSciences .
“There’s a big gap between the way we diagnose and describe a disease and treat a disease,” offered Gonzalo Acuña, global project leader, Roche Genetics . “We treat a disease molecularly but we have no clue what the disease really is. We are trying to bridge this gap.”
Donna Maglott, staff scientist at the National Center for Biotechnology Information , said scientists need “the informatics to go from the basic sciences to something clinically useful.”
“You need to scale up genomics, to do discovery at a whole different scale,” agreed Lance Fors, CEO of Third Wave Technologies . “And productize it. Also need a technology that’s idiot proof, it has to be turn-key.”
Suggested Edvin Munk, senior marketing manager at Sequenom : “You need a map to figure out what SNP correlates to what disease. And then design assays that you can use with the appropriate technology at the point of care, cheap and fast.”
Gregory Yap, senior director of genotyping at Affymetrix , summed it up this way: “To harness more information and harness more information cost effectively.”