For Christa Lese Martin (PhD, HUGEN ’96), you might say the future was in her genes.
Though she had a high school interest in the biological sciences, Martin’s career path gained focus as she prepared for college. “I learned about the field of human genetics and decided then and there that was it,” she says. “And I haven’t turned back.”
Today, Martin is chief scientific officer at Geisinger Health System, where she leads systemwide clinical research initiatives, including those of more than 500 faculty and staff whose disciplines span precision health and genomics to population health, implementation science and clinical trials. She is also vice dean for research of the Geisinger Commonwealth School of Medicine, one of three health sciences schools included in the Geisinger footprint—along with a research institute and 10 hospitals in central and northeast Pennsylvania.
“I’ve always had a mix of clinical and research interests—born, I think, out of the type of department I was in at Pitt, where you were exposed to both sides,” says Martin. “Pitt faculty showed me that I didn’t have to choose one.”
Martin was recruited to Geisinger in 2013 as founding director of the system’s Autism & Developmental Medicine Institute, an initiative that combines a clinic for diagnosis and treatment with a research component to advance and guide care for children with autism and other neurodevelopmental disorders. The institute has served more than 10,000 patients and their families in the past decade.
“We’ve really led with a genomics-first approach to developmental medicine and doing clinical genetic testing as part of routine clinical care,” she explains. “We can use those genetic diagnoses to help develop and drive clinical follow-up.”
Susanne Gollin, PhD, emerita professor of human genetics, remembers Martin as an inquisitive, insightful student with excellent skills who relished being part of a team. “She was my first doctoral graduate student,” says Gollin. “I am enormously proud of what she has accomplished.”
During her final year at Pitt, Gollin recalls, Martin successfully managed Gollin’s laboratory and taught her “Chromosomes and Human Disease” course while Gollin took a three-month sabbatical to study in Germany. “She did this without missing a step either in class or her doctoral research progress,” says Gollin. “She was just amazing.”
The appreciation goes both ways, says Martin. “Susanne gave me the best doctoral training experience – I still refer to her as my scientific mother! She exposed me to so many opportunities and I knew that in addition to research, I wanted to go for board certification, just like Susanne was board certified to run a clinical cytogenetics laboratory.”
A branch of genetics also related to cell biology, clinical cytogenetics involves studies of blood, bone marrow, tissue or cell cultures to determine the relationship between changes in chromosomes and genetic diseases.
After leaving Pitt, Martin completed postdoctoral studies at the University of Chicago, where she stayed on as faculty and ran the clinical cytogenetics laboratory. She also served as director of Emory University’s genetics laboratory before moving back to Pennsylvania.
“At Geisinger, we have some unique opportunities for research based on our patient population,” says Martin, explaining that residents have lived in the rural area for generations. “Many are born here and received care throughout their entire life span with us,” she says, adding that more than 20% of Geisinger patients have provided DNA for research purposes.
In a 2020 JAMA Psychiatry publication, Martin and colleagues described analyzing DNA from more than 90,000 patients for genetic variants known to be associated with neuropsychiatric disorders such as anxiety, depression, autism spectrum disorder, schizophrenia and bipolar disorder. Of those found to carry relevant genetic changes, some 70% experienced at least one clinical symptom. Nearly 30% of variant-positive individuals were found to have relevant diagnoses in electronic health records.
“Finding out there was a genetic cause for their illness was a tremendous relief to many of these people,” says Martin. “They’d say ‘Wow. You’ve given me a medical reason for something I’ve just dealt with my whole life.”
- Michele Dula Baum