‘Big consequences for using genetic information to improve the diagnosis and treatment of disease’

BBI’s Dr. Doug Fowler will be a featured speaker September 16 at a National Human Genome Research Institute (NHGRI) seminar on “Bold Predictions for Human Genomics by 2030.”

Fowler, a UW Medicine Associate Professor of Genome Sciences, will address the prediction, “The clinical relevance of all encountered genomic variants will be readily predictable, rendering the diagnostic designation ‘variant of uncertain significance (VUS)’ obsolete.” He will be joined by Dr. Heidi Rehm, co-director of the Broad Institute’s Medical and Population Genetics Research. Dr. Ben Solomon, NHGRI’s clinical director, will moderate the 90-minute seminar starting at 12 noon (Pacific). Registration is free and is available here.

“I hope people appreciate the incredible challenge this prediction encompasses, and how embracing new approaches, both in the lab and in the clinic, is the only way to make the prediction come true,” Fowler said. “I also want people to appreciate that we are at an exciting turning point in our understanding of the human genome. In particular, we have developed methods that will enable us to comprehensively understand the effects of genetic variation, which will have big consequences for using genetic information to improve the diagnosis and treatment of disease.”

The seminar on the 16th is the seventh in a series of events hosted by NHGRI, the topics of which are related to the agency’s 10 “bold predictions” outlined in a 2020 article in Nature, “Strategic vision for improving human health at The Forefront of Genomics.” Among the other predictions are:

·      Generating and analyzing a complete human genome sequence will be routine for any research laboratory, becoming as straightforward as carrying out a DNA purification.

  • The biological function(s) of every human gene will be known; for non-coding elements in the human genome, such knowledge will be the rule rather than the exception.
  • The regular use of genomic information will have transitioned from boutique to mainstream in all clinical settings, making genomic testing as routine as complete blood counts.
  • An individual’s complete genome sequence along with informative annotations will, if desired, be securely and readily accessible on their smartphone.

For additional information on the sessions, visit the NHGRI website.