Driven by his passion to help others, Konstantinos N. Lazaridis, M.D., has a depth of genomics expertise that comes from decades of sifting through sequences of human genomes to uncover genetic variants and mutations associated with rare liver diseases. He's made significant contributions in genomic research and medicine in a quest to predict and better diagnose disease, as well as devise individualized treatments. Here, Dr. Lazaridis shares his past experiences and his hopes for the future of personalized medicine.
How did you become involved in individualized medicine, and where has your research taken you?
From 2000 to 2003, I served as a Mayo Foundation Scholar in Genomics in the National Human Genome Research Institute at the National Institutes of Health (NIH) in Bethesda, Maryland, when the Human Genome Project was still underway. It was an exciting and fascinating opportunity to get in on the ground floor of what was then an entirely new branch of science: genomics.
Since then, I established and continue to direct two NIH-funded, nationwide patient-oriented studies to examine the genetic and environmental underpinnings of primary sclerosing cholangitis and primary biliary cholangitis ― both rare liver diseases.
In 2012, as the Center for Individualized Medicine's associate director, I led the integration of individualized medicine into patient care at Mayo Clinic, where we've now provided personalized care to more than 7,500 patients.
And most recently, in 2019, I helped initiate Mayo Clinic's Program for Rare and Undiagnosed Diseases (PRAUD), which aims to integrate genomics into subspecialty practice using targeted gene panels, thus better serving our patients with rare diseases. At present, 25 PRAUD genomics clinics are active across Mayo Clinic, and we continue to expand.
The Center for Individualized Medicine is now leading the transition from genomic medicine to 'multi-omics.' What does this mean?
Genomics, or mapping genomes, is one part of what scientists mean when we talk about "omics," but there's much more. We're now working with proteomics, the study of proteins; metabolomics, the study of metabolic processes to identify the underlying causes of disease; epigenomics, the study of epigenetic changes on DNA; transcriptomics, the study of RNA molecules; and the study of the microbiome, the bacteria, fungi, protozoa and viruses that live inside the body.
Multi-omics, then, is a combination of two or more omics approaches to create a multidimensional or layered perspective.
In a way, it's like building a house, and in fact, the principles of architecture help me think through how to understand and intervene in disease. Every beam, rod and column is strategically placed to create a structure, similar to the structure of genes, proteins, cells and organs that create the human structure — or, if a piece is missing or changed, can result in disease.
But, disease processes are complex. There are many layers of elements that interact. You have to understand every layer, just like you have to know how every element of a cell is woven so intricately together. This is how we'll understand why cancer develops in an individual and how to treat it, or what led to a patient's rare disease and how to customize a therapeutic.
What are your goals for the center's future research?
I see the Center for Individualized Medicine putting a razor-sharp focus on the exposome — the measure of all the exposures of a person in their lifetime and how those exposures relate to health. My colleagues and I believe that a profound understanding of environmental contributors to disease and health, when combined with genomics, could lead to vast improvements in knowledge of the causes and risk factors for many diseases.
Additionally, we'll be leading Mayo Clinic and the field of medicine overall in further integrating genomic medicine into clinical practice — particularly in rare disease and cancer — and pushing the bounds of multi-omic discoveries. This quest will be powered by sophisticated research, artificial intelligence, educators and bioethics experts to help navigate critical issues.
We will continue to harness the brightest minds in medicine, reach higher in our innovations, and delve deeper in our understanding of human health and disease to improve the lives of our patients. It's an honor and privilege to lead this exceptional multidisciplinary team and to build on the center's extraordinary legacy of advancing genomics in an effort to prevent, treat and even cure devastating illnesses.
How does the Center for Individualized Medicine directly affect patient care?
We're in a unique position to fuel new discoveries to improve care for our patients, particularly in the space of rare diseases, which affect nearly 30 million Americans. At the same time, we're continuing to illuminate the biochemical markers that could help us predict disease development.
The Center for Individualized Medicine is advancing the idea of sequencing the genome of every Mayo Clinic patient. I envision that one day, all patients will be offered an omics testing kit — even before they come to the practice — for collecting saliva, urine, stool or hair to get a detailed health analysis.
It's of utmost importance that with all this scientific progress in omics, we must not lose our focus on the patient. We have to keep a pulse on their concerns and expectations. We need to keep educating and learning from our patients. And of equal importance, we must pay attention to the learning of our students and practitioners. Delivery of omics-based care requires an educated workforce of health care professionals.
For that reason, I'll continue the center's tradition of encouraging a collaborative environment of intellectual curiosity, exceptional expertise, innovative drive and risk-taking ― all key ingredients for medical breakthroughs. Our collaborative efforts will ultimately result in livesaving innovations for our patients. That is our singular focus.
Dr. Lazaridis is the Carlson and Nelson Endowed Executive Director for Mayo Clinic's Center for Individualized Medicine. He succeeds Richard Weinshilboum, M.D., who provided outstanding leadership as the interim director of the Center for Individualized Medicine following the departure of Keith Stewart, M.B., Ch.B., in 2020. Dr. Weinshilboum played a critical role in advancing the center's 10-year strategic plan in alignment with Mayo Clinic's 2030 strategy, and he was pivotal in coordinating the center's COVID-19 research and laboratory efforts.