Pharmacogenomics – a new scientific research field focused on the interplay between the human genome and the safety and efficacy of modern drugs, may level the playing field for all patients.

According to the Centers for Disease Control and Prevention (CDC), more than 1.3 million Americans each year end up in the hospital because of an adverse drug reaction (ADR). With more than 100,000 deaths per year attributable to ADRs - making it the fourth leading cause of death ahead of pulmonary disease, diabetes, AIDS, accidents and automobile deaths, it has become a critical patient safety problem that the CDC, NIH, and pharmaceutical companies have begun to address with Pharmacogenomics – a new scientific research field focused on the interplay between the human genome and the safety and efficacy of modern drugs.

Pharmacogenomics is focused on helping physicians select the drugs and doses that are best suited for each individual patient.

While most of the research to date has concentrated on the response to drugs tailored to treat illnesses such as cardiovascular disease, Alzheimer’s disease, cancer, HIV/AIDS, and asthma, there may also be some light at the end of the tunnel for patients suffering from neuropsychiatric disorders such as depression, schizophrenia, and bipolar disorder where patients often suffer severe side effects from their medication even after they have been taken off the drug.

According to Dr. Mike Tocci, Associate Dean, New Jersey Center for Science, Technology & Mathematics at Kean University, “Each person has a unique set of genes, so the way the disease manifests itself in an individual and how that individual’s body responds to treatment with specific drugs is different.”

The Future of Medicine

A trained molecular biologist, immunologist, and the former Head of Genomics Science and Biologics at Sanofi, Tocci has worked in drug discovery and pre-clinical development for most of his career, and describes Pharmacogenomics as a major component of “personalized medicine.”

“We are learning the ways drugs are metabolized and achieve efficacy in individuals, or are limited by adverse reactions in individual patients or patient populations through our genes. Physicians and drug researchers are rapidly learning how patients respond to certain compounds in order to better treat disease.”

The Pharmacogenomics research has proven to be more practical for some diseases than others based on our ability to identify and monitor biomarkers. “We don’t have biomarkers for all types of cancer cells or a good appreciation for what types of cells respond to the different types of drugs, but we are learning more about how different cell types function in the human body so eventually we will gain a better understanding of how our genomes influence the actions of specific drugs,” explained Dr. Tocci.

The scope and costs associated with the research raise valid questions about who will benefit the most from this approach both in the short-term and long-term. Patients undergoing cancer therapy are a major focus but there has been progress for those suffering from autoimmune diseases, including diabetes and cardiovascular disease. Physicians will also be a major beneficiary with a more advanced understanding of how to treat patients better with more effective medications and a lower level of risk of adverse events.

While the costs to patients in the early stages may be high, the benefits of Pharmacogenomics in healthcare and drug development will reduce costs over time through increased utilization of biomarkers, gene expression profiling and cell mapping studies. In time, both the efficacy, and safety of drugs will get better and as a result, cheaper for patients.

Consumers have already benefited from Pharmacogenomics research in regard to the safety of drugs being approved by the Food and Drug Administration (FDA). More than 200 drugs have been labeled with new information on genomic biomarkers, which also describe drug exposure and clinical response variability, risk for adverse events, genotype-specific dosing, mechanisms of drug action, and trial design features. This new research has been incorporated into clinical trials and impacts companies involved in the development of compounds.

Pharmacogenomics is heavily dependent on molecular biology and involves a number of processes including PCR, protein ID (Western blotting, ELISA), determining gene expression, gene and protein profiling techniques, cell sorting methods, cell separation techniques (Centrifugations), cell imaging methods, and the ability to analyze and profile cells in diseased tissues in human and animal models.

Obstacles to Advancement

While almost all of the news regarding Pharmacogenomics has been encouraging, there are still a number of factors hindering advancement of the field. Tests in animal models are not always predictive of how humans will respond, access to adequate numbers of patient samples, and social as well as ethical considerations in regard to patient privacy could limit certain groups from participating. The risks and costs associated with Pharmacogenomics research are important factors that can limit who can do the research, or afford to implement this type of treatment.

“The long-term benefits of Pharmacogenomics will be significant. Future work will enable personalized treatment of patients with more effective and safer drugs that will hopefully prolong life, and/or improve the quality of life by limiting side effects and adverse reactions. The biggest concern will be to ensure that we advance the science from an ethical standpoint and guarantee that all people can benefit and afford this,” remarked Dr. Tocci.

In his role as Associate Dean of Research for the New Jersey Center for Science, Technology & Mathematics at Kean University, Dr. Tocci helps oversee the STEM degree programs where they take a multidisciplinary approach to teaching science, integrating Biology, Chemistry, Physics, Mathematics and Computer Science into the curriculum. The STEM program provides students with the opportunity to learn problem solving by experiencing science in the lab and not just through textbooks. STEM students work alongside faculty to research questions that we don’t know the answer to. Current research includes working on cancer biology to better understand biomarkers, medicinal chemistry to understand how one can block cancer cells from metastasizing, and understanding the genomics of how the drugs interface with gene products.

learn more