By Ruben Bonilla Guerrero on Jan 11, 2019 10:00:00 AM
I love to drive race cars. I am also passionate about a different type of race, personalized medicine. Personalized medicine is a race against the consequences of empirical trial and error, the “one size fits all” approach to medicine that has historically been the norm. My observation that medications were generally given to all kinds of patients at very similar doses started during the ’70s when I was growing up in Mexico and living above what years before was my mother’s first drug (Farmacia) store. In the back, there was a small laboratory (Rebotica) where liquid medications made out of “powders (active pharmacological compounds),” rice paper used to make tiny, easy to swallow envelopes, syrups, and active compound solutions, arrived. Talking to many friends from around the world, they shared similar recollections concerning both sides of the pharmacy counter. Many years later, my race against the consequences of trial and error medicine accelerated during my pharmacology classes in medical school when I learned that medications were only dosed based on a patients’ age, and in some pediatric cases, by weight and/or skin surface area. At this point, I made it a personal goal to study as many potential factors that contributed to differential drug response among people.
During my Experimental Pathology Fellowship at the Mayo Clinic in Rochester MN, I performed research focused on explaining how fast hepatitis C virus (HCV) hepatic re-infection occurred after orthotopic liver transplantation (OLT) due to an HCV infection, while peripheral blood mononuclear cells (PBMC) remained HCV free. The results showed that patients were re-infected as early as seven days post-OTL depending on their pre-surgery viral load. Not surprisingly, OLT is no longer offered as an HCV infection related hepatic failure solution.
Over time, my interests evolved, and I wanted to learn why some patients established a long-lasting competent immune response after measles vaccinations, while others failed to do so. At the same time, I became passionate about understanding the molecular reason why people respond to drugs differently (pharmacogenetics), including, drug efficacy, and adverse drug reactions. My race continued, and I completed a three-year Clinical Pharmacology Fellowship with a focus on vaccine development and pharmacogenomics at Mayo.
The results of my work during this fellowship were striking. It showed that patients had different cytokine mRNA expression levels, which lead to a different Th1 or Th2 cytokines production levels. Furthermore, it was the Th2 type cytokines that produced a long-lasting immune response to the measles vaccination. In a similar fashion, drug response was directly correlated with the functional levels of enzymes associated with drug metabolism (pharmacokinetics) and the genes associated with the biological targets (channels, receptors, etc.) where medications exert their effect (pharmacodynamics), which in turn corresponded with certain allele combinations in several genes (pharmacogenomics).
With several laps around the race track behind me, I wanted to understand the molecular and biochemical basis of disorders associated with the metabolism of endogenous compounds (inborn errors of metabolism). So, I immersed myself in another fellowship at Mayo, a two-year Clinical Biochemical Genetics Fellowship. During this time, I drove myself to understand, develop, and interpret clinical assays related to diagnosing biochemical genetic conditions. During this work, it became apparent to me (again) that personalized medicine was still not widely applied to patient care. Pharmacogenomics tests were not ordered for patients with metabolic disorders who were already metabolically compromised and couldn’t afford to be given medications that were not either effectively treating their symptoms or prescribing drugs that may produce adverse drug reactions, adding severity to their existing condition.
My training at Mayo gave me the tools necessary to adroitly handle my racecar in the precision medicine race. Many years later, after working in a large commercial reference laboratory, I decided to join Admera Health and fully apply these skills to advance personalized medicine and promote its use to improve patient care and reduce healthcare cost, while focusing in three genetic areas: pharmacogenomics, cancer, and inheritable cardiovascular disorders.
Truly personalized medicine is the utilization of all available analytic platforms to accurately diagnose a patient and implement effective therapy for the condition. Several platforms are currently used in precision medicine: cytogenetics, microarray, sequencing assays, and biochemical and metabolomics assays using mass spectrometry analysis to mention a few.
My current areas of focus in personalized medicine are:
- Pharmacogenomics, the specific analysis of genes that impact drug response to guide effective therapy with less or no adverse drug reactions;
- The accurate analysis of specific cancers (Tumor type) for susceptibility or resistant to treatment including targeted therapy or standard chemotherapy agents. This area includes solid tumor analysis and liquid biopsy analysis;
- The specific diagnosis and treatment of inherited cardiovascular disorders.
This race is far from over; it is an endurance race with constant course changes that will never end. Like all aspects of medicine, personalized medicine is multidisciplinary. It requires a dedicated team comprised of people with several very different sets of expertise to create a clinically useful result.
I am proud to say that at Admera Health, our commitment to patient care goes beyond the requirements to get the job done. We thrive to improve patient care and personalized medicine.
About the Author:
Dr. Ruben Bonilla-Guerrero is an award-winning published author with specialties in clinical pharmacology/pharmacogenomics,molecular biology/genomics, and clinical biochemical genetics. Dr. Bonilla-Guerrero obtained his M.D. from the Universidad Veracruzana in Veracruz Mexico, followed by 14 years of post-medical school education, and work experience at the Mayo Clinic in Rochester Minnesota, and 9 1/2 years of work experience as part of the Genetics Medical Directors team at Quest Diagnostics. Dr. Bonilla-Guerrero is board certified in Clinical Biochemical Genetics by the American Board of Medical Genetics (ABMG) and in Molecular Biology by the American Society of Clinical Pathology (ASCP). He is also a member of several national and international professional organizations. In addition to being a physician, Dr. Bonilla-Guerrero is also a race car driver, electric guitar player and a proud father of two bulldogs.