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Duke Clinical Research Institute Announces ‘Discovery Genomics’ Venture

Duke Clinical Research Institute Announces ‘Discovery Genomics’ Venture
Duke Clinical Research Institute Announces ‘Discovery Genomics’ Venture


Duke Health News Duke Health News

Citing an increasing need to incorporate pharmacogenomics into clinical trials, the Duke Clinical Research Institute (DCRI) has created “Discovery Genomics,” a novel, fully integrated, one-stop solution for pharmaceutical companies hoping to harness the power of genomic investigation in planning and carrying out experiments on new drugs and therapies.

The move pairs expertise in the DCRI, the largest academic research organization in the world, with that in Duke’s Center for Human Genome Variation (CHGV).

The center is a global leader in conducting whole exome/whole genome sequencing and genome wide association studies that have already led to landmark discoveries in the fields of Mendelian diseases, neurological disorders, HIV and response to hepatitis C therapy.

“Fully understanding how and why people respond differently to new treatments will help drug developers make better decisions about how to design efficient, cost-effective and meaningful clinical trials,” says David Goldstein, PhD, director of the CHGV and The Richard and Pat Johnson Distinguished University Professor who will direct the new program.

“Ultimately, incorporating pharmacogenomics at the outset will generate more focused studies that should speed up the pace of discovery.”

Discovery Genomics will offer research partners a full range of services, including assistance with informed consent, tissue sample collection and storage, workflow design, sequencing and analysis, guidance on how to apply the findings and suggestions for future work.

Traditional clinical trials typically test a drug in small, early-phase, safety studies and then move to dose and comparison investigations among larger numbers of patients who share the same diagnosis.

But often, only a small percentage of patients will respond favorably to a drug. As a result, signals of real efficacy can be missed in large study populations.  

“It could be that we’ve already tossed aside the perfect drug for a specific disorder, all because we didn’t make use of tools at hand to fully test it in the appropriate set of patients,” says Kevin Schulman, MD, associate director of the DCRI and director of the Fuqua Health Sector Management Program.

“Discovery Genomics will help identify genetic markers that identify patients who respond well to a drug, as well as those who could potentially be harmed by it. That’s information that could be invaluable for drug companies needing to select or salvage drugs that may not otherwise be viable.”

The CHGV can perform whole genome or whole exome studies in a timely, cost-effective manner and has already compiled a reference set of over 200 genomes that have been sequenced at high coverage.

“This means that in identifying rare, adverse drug reactions, we would only need to sequence those individuals with the adverse reactions and could use our reference set as controls, saving on cost,” says Goldstein. 

Sequencing data alone do not tell much of a story; they must be analyzed and interpreted. The CHGV has developed a quick and efficient data analysis pipeline to do just that.

One component of this pipeline, SequenceVariantAnalyzer (SVA), is software that can identify the functional effects of the genetic variants identified by sequencing and prioritize variants that are most likely to have the biggest impact on the study variables.

The software is readily downloadable online. Over 500 researchers worldwide have begun using the software in the past year.  

While the idea of using genetics to streamline drug development has been around a long time, technology has only recently matured enough to allow cost effective application of genetic analysis to pinpoint adverse reactions and drug responses. CHGV’s identification of genetic variants near IL28B that predict successful response to hepatitis C treatments is one recent example of this success.

“The IL28B discovery made last year -- which was a collaboration between CHGV and a pharmaceutical company sponsor -- is already changing the way drug companies are approaching clinical trials for hepatitis C,” says Robert Harrington, MD, director of the DCRI. “Through the launch of Discovery Genomics, we hope to work with additional companies interested in accelerating the pace of similar discoveries.”  

For inquiries about Discovery Genomics services, call Darcy McMullin, PhD, at the Center for Human Genome Variation, at 919-684-7573 or

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