Every once in a while a young person’s career destiny predicts its manifestation early and accurately. The most notable of these in terms of global awareness are typically athletes like Tiger Woods, Serena and Venus Williams.
At the tender age of six or seven, Greg Gibson, unsolicited, asked his mother a question about … genomics.
After flirting with a law degree as an undergraduate, Greg read a book about genomics that not only reinforced his childhood proclivity, it cemented his post-graduate work and career path.
At that time, the early-mid 1990s, relatively little was known about developmental genetics. PhD work in the labs of the University of Basel, Switzerland got him solidly in on the ground floor in the science’s emerging understanding of how genes orchestrate the body plan.
Post-doctoral work at Stanford University and Duke University expanded upon that work including micro-array analysis and quantitative genetics during the true advent of genomic sequencing and analysis.
“I find the evolution of complex traits and the impact a single nucleotide has on genetics endlessly fascinating,” Dr. Gibson, now Professor and Director, Center for Integrative Genomics at Georgia Tech and Adjunct Professor for the Emory University School of Medicine, said.
The Case for Early Genomic Diagnostics in Pediatric Patients
According to Dr. Gibson, autoimmune diseases in general affect 5 percent of the entire population. The earlier the onset, the more genetic the cause.
“Primary immune deficiencies in a six month old are likely the result of one or two defective genes,” he said. “After 2 years of age, using genomics to diagnose health issues becomes more complex. At that point, there are hundreds of genes to examine making RNA more applicable, compared to DNA at earlier ages. But things aren’t deterministic, we have to learn to think in terms of likelihoods and risk stratification.
“Nevertheless, 1 percent of newborns are admitted to the NICU [neonatal intensive care unit]. Genomic sequencing at that time can diagnose 30 to 40 percent of the causes, more often than not changing medical care recommendations and in maybe one in ten cases resulting in a cure.”
“If we can make genome analysis part of the standard of care, especially for newborns and infants, I believe we can ameliorate lifetimes of chronic illness for absolutely astounding numbers of people.
“Inflammatory and auto-immune diseases continue to present unmet needs, especially for adolescent patients. Currently available drugs tamp down the immune system, which is not optimal, and TNF inhibitors are not only expensive, they only work for around 20 percent of patients while simultaneously creating adverse responses like dependence and resistance.
“Genome-enabled interventions can be life changing for patients with chronic conditions, subject to relapses and general cycles of feeling awful, or a much lower quality of life than those not suffering from their particular condition,” he said.
Over the next decade or two, Dr. Gibson believes we will learn, much like we have learned with cancer therapies, how to do a better job of getting the right treatment to the right people at the right time, as early in their lives as possible. The implications for earlier intervention using genomics in IBD, allergies, arthritis, Lupus and Celiac disease cases, to name a few, are significant.
Dr. Gibson and his colleagues’ current work in the pediatric realm ultimately seeks to identify genetic disease mechanisms in order to identify new drug targets and optimize personal treatments. Another theme of his research is addressing health disparities, making sure that as we move forward everyone benefits regardless of ethnicity, gender or financial disadvantage.
One tangible example of the potential for his group’s work to mesh with others in the Georgia Tech Pediatric Technology ecosystem are the devices (like Mark Prausnitz’ microneedle technology) for the slow release of therapies that might limit or inhibit a young person’s immune system’s reaction (rejection, dependence or resistance) to therapy.
Looking Farther Forward
“In the same way that pediatric oncologists now meet with a large team of scientists, including bio-mathematicians, to discuss individual patients’ treatment pathways, we want to see that process applied ubiquitously to pediatric auto-immune cases 10 years from now,” Dr. Gibson said. “We want to see genomic profiling become a regular, standardized piece of the clinical experience.
“More specifically, scientifically, we have learned that there is not a single gene responsible for inflammatory bowel disease. There are in the neighborhood of 2,000 responsible, and individuals’ responses to available therapies is very rarely the same.
“We are still a very long way from getting the right therapeutics to the right kids. Genetics is great at uncovering why a condition exists, but not how that condition responds to therapies. Genomics and its therapeutic implications are also not very well understood by Insurers and frontline physicians currently. An investment of a few thousand dollars early in life compared to many tens of thousands per year for a lifetime seems like a good one to make, but our system has not yet placed payment for certain diagnostic tests on equal footing with pharmaceutical therapies. That needs to change.
“That’s the frontier, personalized medicine. How to get the right drugs or therapies to the right kids at the right time, keep them off of drugs they don’t need to be on, reduce adverse effects, improve outcomes for a lifetime starting at a very young age and keep lifetime costs low.
“Thanks to entities like Georgia Tech Pediatric Technologies and the engineering expertise abundant in its ecosystem, important research and collaborations continue for technologies with a strong likelihood of improving the lives of pediatric patients close to home and around the globe.”
We thank Dr. Gibson for sharing his story with us here.