As she looks back on her 40-plus year career, what surprises Nancy Cox, PhD, an internationally known geneticist at Vanderbilt University Medical Center, is how much progress has been made, and yet how much more there is to learn about the role genetic variation plays in human disease.
“I’m amazed,” said Cox, who directs the Vanderbilt Genetics Institute, as she accepted the American Society of Human Genetics (ASHG) Leadership Award Nov. 1 during the society’s annual meeting in Washington, D.C.
Even since 2003, when the human genome was first sequenced, “dazzling” progress has been made in understanding and treating genetic diseases, said Cox, the Mary Phillips Edmonds Gray Professor of Medicine and director of the Division of Genetic Medicine at VUMC.
“It is also astonishing how much we still don’t know and don’t understand, and from my perspective, how many of the new things we do understand are quite different from what we might have predicted — or even thought that we knew — when I was a student,” she said.
Why, for example, is there so much diversity among people with the same genetic mutation? Why do so many healthy people have mutations that once were thought to be “completely penetrant” in causing disease?
“One of the most surprising things I’ve learned is how much less deterministic genetics is than we thought back then,” Cox said. Genes are important harbingers of health but so are environmental factors and social determinants, including lifestyle.
“None of us could have conceived that we would have so many highly significant, highly reproducible (genetic) signals and understand so little of the actual biology of those discoveries,” she said.
Established in 1948, the ASHG, in the words of the society, “is the world’s largest professional community driving the field of human genetics and genomics research and translation.”
In presenting the Leadership Award, ASHG president Brendan Lee, MD, PhD, chair of molecular and human genetics at the Baylor College of Medicine in Houston, acknowledged Cox’s research achievements, her leadership roles in scientific consortia, and her commitment to graduate education.
“Nancy is a thought leader, a role model and a compassionate advocate for diversity, equity, and inclusion in science,” Lee said.
“There’s nothing more important than training the next generation of scientists,” Cox said.
In her acceptance speech, Cox, who served as ASHG president in 2017, urged her colleagues to communicate the “nuance” of their discoveries. No one is better suited than geneticists to investigate the interacting or additive contributions of non-genetic factors to long-term health and disease risk.
“Genetics will help us see that better and understand it in a more holistic way,” she said.