The research paradigm had been: examine a person’s traits or symptomsthen, then search for genes or gene variants that cause or contribute to them. But it was difficult for researchers to recontact people with genotypes of interest for “downstream” follow-up.
Now, the National Institute of Health (NIH) and Inova Health System are launching The Genomic Ascertainment Cohort (TGAC), a 2-year pilot project that will allow researchers to recall genotyped people and examine the influence of genes and gene variants on phenotypes. “This is essentially match-making between genes and gene variants and the researchers who study them,” says Richard Siegel, MD, PhD, TGAC co-organizer, and clinical director and chief of the Autoimmunity Branch at the National Institute of Arthritis and Musculoskeletal and Skin Diseases. For instance, a researcher might locate a genotype of interest in the database and ask participants with the genotype to come to the NIH Clinical Center in Bethesda.
Participating NIH institutes will contribute genome and exome sequences from existing research programs to the database. Another 1,000 patients will be recruited to have genome sequencing performed. Half of the new recruits will be from Hispanic backgrounds.
The researchers are aiming for 10,000 genomes and exomes to allow recruitment of people with both common and rarer gene variants.
“We’re trying to advance science in a new, creative, and slightly radical way,” says Leslie Biesecker, MD, TGAC co-organizer and chief of the Medical Genomics and Metabolic Genetics Branch at the National Human Genome Research Institute. “We’re especially interested in using this as a platform to test our ability to predict phenotype from genotype—one of the key underpinnings of predictive genomic medicine.”