Personalized medicine, also termed precision medicine, is a procedure that separates patients into different groups—with medical decisions, practices, interventions, and/or products being tailored to the individual patient based on their predicted response of risk of disease (Wikipedia). It aims to shift the emphasis in medicine from reaction to prevention, helping to increase patient adherence to treatment, avoid adverse drug reactions, and improve quality of life. In addition, it can also reduce trial-and-error prescribing and reveal alternative uses for medicines and drug candidates—ultimately helping control the overall cost of healthcare.
On the forefront of the personalized medicine movement is pharmacogenetics (PGx) and disease-related genetic testing. These help identify predisposition for disease and predict adverse drug response or likelihood of response as well as aid in making informed medical decisions, and improving the quality of treatment and overall health outcomes.
At the 2017 Health Action Council Annual Conference, we heard from Dr. Charis Eng MD, PhD and Founding Chairwoman of the Genomic Medicine Institute and Director of the Center for Personalized Genetic Healthcare Cleveland Clinic Lerner Research Institute, about how advancements in genetic medicine are opening a world of proactive care, and treatment opportunities that are positioned to have a significant impact on both population health and healthcare policy.
In basic terms, if it takes longer for a disease to be detected, there is a greater chance that the disease has become advanced or even irreversible. Currently, intervention in the US healthcare system often occurs too late, long after the point of the earliest potential clinical detection at a time when the cost of treatment is very high and the likelihood of remission or recovery very low.
Genetic counselors act as educators, and walk you through your family and personal medical history to determine what type of genetic tests are necessary, if any. When tests are recommended, they also work with patients to review results and explain what the presence of a genetic mutation means.
For example, if you are at an elevated risk for cardiovascular disease, your genetic counselor will help connect you with a heart specialists to monitor the situation. If you have a higher risk of developing cancer, your counselor will help you to assess the situation and weigh your options, from “watchful waiting” to more proactive, preventive treatments.