When people think of precision medicine they mostly think about genes and drugs that are designed to target specific genes. And though genes play a big role in precision medicine, the term has always encompassed more than DNA.
“Precision medicine is understanding the disease in the context of that individual patient and their individual exposures, lifestyle, and environment,” says Kevin Gardner, MD, PhD, the new senior vice chair for the Department of Pathology and Cell Biology, who is helping to lead the department’s precision medicine initiatives, particularly in underrepresented minority communities. “It’s not just their individual biology, it also matters where and how they live.”
That perspective came early to Dr. Gardner–before the term precision medicine was invented–as he grew up watching his father, a physician in Plainfield, N.J., take care of patients.
We spoke to Dr. Gardner, who recently moved to Columbia University Vagelos College of Physicians and Surgeons after 27 years at the NIH.
Q: Your father–unusually for the time–made house calls along with seeing patients in his office. How did he influence your perspective on precision medicine?
A: After finishing his residency at Bellevue, my father set up a practice as a general practitioner in the first floor of our house in Plainfield, New Jersey.
No one else in the city was doing house calls at the time, and my friends’ parents would always comment on the fact. So one day I just asked him, “Why are you doing house calls?”
And he said that’s where he really had a sense of understanding the patient. You need to know how people live to really understand them. It’s not just having a rote understanding of the disease, you need to add the patient within the context of that disease.
I think that influenced how I look at medicine in terms of looking at the patient holistically. It’s all about the context of the patient.
Q: That sounds unusual coming from someone who trained as a pathologist.
A: In some corners, we still have a kind of ghoulish reputation. If a pathologist moves into the neighborhood, people fear that small animals and the elderly may start to go missing.
However, in all seriousness, I think pathology has evolved over the last couple decades to really have its finger in almost every aspect of medicine. It’s a real bridge between science and medicine.
When I was a medical student, I realized I enjoyed thinking about mechanisms of disease and putting every aspect of new learning and understanding into context.
You begin to understand that for each disease, one size does not fit all and that there are different forms and types that are defined and influenced by multiple distinct determinants or features. These determinants or features comprise every aspect of the patient including their biology and “how and where” they live. The more you can identify and define these determinants the more you begin to learn, understand, and predict both disease susceptibility and response to treatment.
Now, with the evolution of so many new and disruptive technologies like genomic sequencing, proteomics, metabolomics, and microbiome profilin, we can do things we never dreamed of doing before. This is complemented with the ability to house, store, and analyze enormous amounts of data. The availability of “BIG DATA” has become a fertile ground for the development of artificial intelligence. Quite simply, all types of patient information including imaging, lab, epidemiological, behavioral, and social data can be analyzed by computers with sophisticated software that will assist doctors in increasing the speed and accuracy of decision making that will improve overall disease diagnosis, treatment, and prevention.
So it’s an exciting time to be in pathology.
Q: Your own research is in breast cancer and differences in breast cancer among different ethnic groups. How can precision medicine help here?
A: In some of my work, I’ve been studying populations that show disparate or unequal frequency and/or outcome from breast cancer. The big question is why? To answer that question, we have to examine all aspects of the patient.
One well-known example is triple negative breast cancer, a particularly aggressive form of breast cancer that occurs at almost a twofold higher frequency in women of African descent. The disease has a much poorer prognosis because it has no receptors that can be targeted with drugs that are available today.
Some research groups have concluded that the disease seems to be the same, regardless of ancestry. Whether or not this is true will require more investigation, but the higher frequency in women of African ancestry suggests they may be more susceptible to developing this type of breast cancer.
The higher frequency in women of African ancestry suggests they may be more susceptible to developing this type of breast cancer.
The underlying causes for these differences are likely to be highly complex, involving multiple features where biology, behavior, and the environment interact. Fully understanding these linkages will require more studies that include more members from under-represented minority populations.
Q: Right now, there isn’t a lot of diversity among people who have participated in precision medicine research. Why is it important to change that?
A: In order for precision medicine to really show its promise, the research has to be extended into as many diverse populations as possible.
As an example, if you sequence a patient’s genes and you find a variant that hasn’t been seen before, you can’t know the significance of that finding. These types of variant findings are more common when the patient comes from a population where there hasn’t been much sequencing. Until there’s more data to track the abnormality and see how it correlates–or doesn’t correlate–with other aspects of the patient and his/her disease, they have no predictive value.
Columbia is ideally positioned, both geographically and in terms of awareness among leadership, to really make a major contribution toward increasing diversity within its precision medicine initiatives and its ultimate impact.
Q: To make sure precision medicine doesn’t contribute to health disparities, African-Americans and others need to participate in research studies like All of Us, which is gathering information from 1 million Americans. But there is often suspicious among these groups.
A: There’s a history of the scientific community and under-represented minority communities not having the best trust relationship. That will take time to change. But you begin with an awareness. You begin with handshaking, you begin with using your feet. You have to show up, you have to talk truth to folks, and you have to build that trust.
I have met with faculty at Harlem Hospital and will do so many more times in the future. I look forward to working with Maurice Wright to help build bridges, coalitions, and alliances with many of the programs at CUIMC, the Herbert Irving Comprehensive Cancer Center, and the Mailman School of Public Health.
Trust comes from talking, empowering people, and educating each other. That’s what outreach is about, no matter what the discipline is.