Combined strengths

Making genomics research matter to patients today

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Herbert “Skip” W. Virgin, MD, PhD, left, and Jeffrey D. Milbrandt, MD, PhD, combine genetics and genomics to provide clinical care.

BY Stephanie Stemmler

Sitting at a kitchen table one night years ago, Jeffrey D. Milbrandt, MD, PhD, and Herbert “Skip” W. Virgin IV, MD, PhD, hashed out an idea that would help revolutionize medicine. Milbrandt, the head of the department of genetics, and Virgin, the head of pathology and immunology, would combine their departments’ strengths in genetics and genomics and clinical laboratory testing to change the way diseases are diagnosed and patients are treated.

Melding their expertise, faculty, staff and resources, the two established Genomics and Pathology Services, or GPS, a clinical genomics testing service that provides a distinct road map for physicians on how best to treat a person’s specific disease based upon his or her own genetic variation. They call it “precision or personalized medicine.”

“This is not research, this is actual clinical care,” stresses Milbrandt, the James S. McDonnell Professor of Genetics. “We wanted to take genomics research and make it matter to patients today.”

"The issue now is how fast can we do this and how many patients and diseases can we impact? This is a game-changer."
— Herbert "Skip" Virgin, MD, PhD

Testing can identify gene mutations that impact the course of treatment. Once identified, available targeted drug therapies can be used. They started with cancer and saw results almost immediately. They found that one patient whose metastatic cancer was unresponsive to treatment had uncommon genetic mutations. When they offered a different class of drugs targeting those mutations, the tumors decreased in size within one month.

“We’ve proven we can impact care with this type of testing,” says Virgin, the Edward Mallinckrodt Professor of Pathology and Immunology. “We’ve done more than 1,000 cases of cancer already, and we’re finding mutations in those cancers that we didn’t expect to find.”

More resources could expand the testing platform to include other genes. Funding also could help the team expand translational research trials to identify more targeted drug therapies and allow them to evaluate long-term patient outcomes.

“We know what to do, and we’re moving beyond cancer to include sudden cardiac death, kidney disease and congenital birth defects, to name a few,” says Milbrandt.

Says Virgin, “The issue now is how fast can we do this and how many patients and diseases can we impact? This is a game-changer.”

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