11:54 AM
May 10, 2018
 |  BC Innovations  |  Strategy

Finding phenotype

NIH, Inova flip the typical approach to matching genotypes to phenotypes

NIH wants to find direct relationships between genes and disease more efficiently than GWAS or other standard approaches allow. The institute has teamed up with Inova Health System to create a searchable pool of genomes from volunteer donors, whom researchers can call in for additional studies to test their hypotheses out on.

The partners are taking a thrifty approach to demonstrating proof of concept; their launch of a two-year, intramural pilot leverages participant recruitment, DNA sequencing and clinical profiling resources that are largely prepaid.

Dubbed The Genomic Ascertainment Cohort (TGAC), the program is establishing a database of genomes or exomes from 10,000 individuals who have consented to be contacted. Most of the donors were previously recruited for prior NIH or Inova studies.

NIH and Inova will search the database for gene variants of interest, make predictions about their biological consequences, and test them out by evaluating individuals carrying the variants at the institute’s Clinical Center in Bethesda, Md. “We sort of turned clinical research on its head; instead of gathering people by their clinical attributes, which always involves assumptions about what we think diseases are, we let the genome tell us what’s going on,” said program co-organizer Leslie Biesecker.

Biesecker is head of the Medical Genomics and Metabolic Genetics branch at NIH’s National Human Genome Research Institute (NHGRI).

John Niederhuber, CEO and EVP of Inova Translational Medicine Institute, thinks the approach could improve on the low success rate of traditional approaches.

“Every experiment we do is a test of the question, can you predict phenotype or outcome from genotype?”

Leslie Biesecker, NIH

“It’s been mostly frustrating, I don’t think we’ve gained a lot of information. We’ve gained some suggestive relationships between variants in genes and particular disease phenotypes, but we have not been able to show very clearly that these are causative.”

Researchers typically look for genetic drivers of diseases via small, patient-focused sequencing studies, or by genome-wide association studies (GWAS) -- which use DNA microarrays to find...

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