Charis Eng, MD, PhD, FACP, is a leader in the field of cancer genetics. She was the first to discover a link between mutations in the cancer suppressor gene PTEN and Cowden syndrome and other disorders that can put patients at an increased risk for several types of cancer.
The Eng lab focuses on patient-relevant research in human genes and genetics to create a roadmap for illness prevention, which can lead to graceful aging. They take a “Knowledge is Power” approach in their work to help empower patients to promote health and well-being for themselves and their families.
Her research in the genomics of heritable cancers, such as breast and thyroid cancers, has led to over 500 peer-reviewed articles, over $50 million in funding, and has earned her a number of awards throughout her career.
Eng is a physician-scientist and geneticist at the Cleveland Clinic, chair of the Genetic Medicine Institute, and director and attending clinical geneticist of the Center for Personalized Genetic Healthcare. She also serves as a professor and vice chair of the Department of Genetics and Genome Science at Case Western Reserve University School of Medicine.
Eng is the next speaker in the Precision Genomic Collaboratory’s Genomic Seminar Series, a quarterly seminar series that highlights leading researchers and their high-level vision for genetics, genomics, and ‘omics broadly.
The next Genomic Seminar Series will be held on August 22 at noon via Zoom. In advance of her lecture, we asked her a few questions about her work:
How did you become interested in clinical cancer genetics and PTEN mutations?
I was very inspired by my high school’s (Laboratory School, University High School) advanced biology teacher, the late Mr. Murray Hozinsky, who was interested in and taught genetics. In his spare time, he taught cancer education. I decided to put genetics and cancer together and have worked inexorably since then.
When I was in residency and fellowship, there was no such thing as clinical cancer genetics in this country. So, the professors at Dana-Farber, who knew of my interest, asked if I wanted to go abroad for training. I chose the University of Cambridge with Professor Bruce Ponder to train at the bench and the bedside.
When I returned to the U.S. in my first faculty position, I decided to practice the then-new subspecialty clinical cancer genetics.
When I was in medical school and completing a reading elective, I said to the professor in charge that I wanted to find the Peutz-Jeghers gene, which I did not (oh well!). Instead, I identified PTEN as the predisposition gene for Cowden syndrome, which is characterized by multiple hamartomas and a high risk of breast, thyroid, and other cancers. The rest is history.
What is genetic- and omics-enabled personalized health care, and how do you implement it?
My team discovered and mapped the PTEN gene, and we found that it is critical for suppressing breast, thyroid, and other cancers. Because of our work, we can help people who have inherited mutations in this gene. Our work, together with others, has informed practice guidelines that include enhanced cancer screening, which leads to early detection and cure.
When I was recruited to the Cleveland Clinic, I founded the Genomic Medicine Institute (GMI), which is a single platform for research, education, and clinical work. The clinical arm is called the Center for Personalized Genetic Healthcare (CPGH), and it is where discoveries from the lab can be translated. The clinical arm enables the uptake and enrollment of individuals with inherited conditions. Notably, CPGH houses our PTEN Multidisciplinary Clinic, one of only three PTEN Clinical Centers of Excellence in the United States, which provides clinical services and support for children and adults with PTEN mutations.
What do you think has been your most important discovery so far, and why?
Our ultimate goal is to be able to accurately diagnose and/or predict what condition(s) each person is at risk for, and to select targeted interventions to effectively treat or to prevent, as the situation dictates. In the ideal world, everyone would have knowledge about genetic and genomics-based personalized health care, such that all can take advantage of it, not only for disease management, but also to keep healthy people healthy.
We have made, and will continue to make, great strides towards this goal, thanks to collaboration within scientific and medical communities, advancements in technology, patient engagement in their own health, and the growing support from federal agencies and healthcare organizations. For example, we now know of approximately 400 inherited cancer syndromes with associated genes, and each gene is different. By determining what specific gene is altered, we are able to predict what cancer or cancers that person is at risk for, when the cancers will appear, and, as a result, how to change the clinical care.
The Precision Genomics Collaboratory (PGC) is a community of researchers that spans basic, translational, and clinical sciences across Duke University and the Duke Health System. PGC fuels innovation in the cycle of basic discovery, translational and clinical research, and patient care, spurring discovery across precision medicine, genomics, human genetics, and translational to clinical care. Learn more at bit.ly/genomics-collaboratory