Magee-Womens Research Institute & Foundation

Reading the tea leaves: New DNA tests may promote better interventions

Here we are, sort of in a new era of clinical chemistry. You think about your standard blood test that you have routinely at the doctor’s office, and the complexity of those tests, and the information content within the results is evolving rapidly. And a lot of the reason for that evolution is driven by this field.
Dr. David Peters

For the better part of the past two decades, David Peters has been developing diagnostic techniques that harness the potential of human DNA to predict the future — and open a window of opportunity for safer treatment.

Peters, who specializes in human genetics, initially developed a test that can search for Down syndrome in an unborn baby without the risk of traditional amniocentesis. That work led him to a series of collaborations that, thanks to the mapping of the human genome, offer new hope for better detection of a wide variety of conditions, from endometriosis to pre-eclampsia and beyond.

A current collaboration with Lisa Pan, a professor of psychiatry at the University of Pittsburgh’s School of Medicine, sequences the genome of patients with major depressive disorders who do not respond to any form of therapy. Pan found metabolic anomalies in their spinal fluid, and in many cases, she was able to apply corrective drug therapy that allowed the patients to recover.

The two are working to determine whether there is a genetic root cause to the metabolic anomaly identified in Pan’s research, one that might show up in biomarkers that predict or allow for diagnosis of psychiatric disease, or predict how a patient might respond to therapy.

During a meeting that was part of that collaboration, Peters was also drawn into a project related to necrotizing enterocolitis (NEC), a catastrophic autoimmune reaction some premature infants have to their own intestines, causing them to shed the lining of their own tiny guts. Diagnosis often doesn’t happen until after the babies are already in significant danger.

Peters had never heard of it, but he theorized that he might be able to find biomarkers in stool samples taken from the infants’ diapers. So now he is working toward developing a diagnostic tool for NEC. His work targeting genomic analysis of neonatal necrotizing enterocolitis won a $1.5 million grant from UPMC’s Center for Commercial Applications of Healthcare Data.