Pharmacogenetics is the study of how genes affect the metabolism of medications/drugs in individual people. The use of pharmacogenetic testing has the potential to predict response to medications and avoidance of adverse drug events. Adverse drug events are one of the leading causes of hospitalization in the United States, so reducing the potential for adverse drug events has important implications for patient experience, compliance, and healthcare spending.
Cleveland Clinic’s Center for Personalized Healthcare is playing a central role in selecting and integrating select pharmacogenetic testing into clinical practice. Pharmacogenetic testing is already being used routinely by our clinicians for many forms of cancer therapies. It is also recommended and being used appropriately for certain specialized medications such as Abacavir.
As more evidence becomes available supporting the use of select pharmacogenetic testing for particular groups of patients on certain drugs, we will work with our clinicians to develop the guidelines, recommendations, and the infrastructure to use these tests in clinical practice. At the same time, because the field of pharmacogenetics is still in its infancy, we will participate in “comparative effectiveness research” in order to study the impact of pharmacogenetic testing on clinical practice and patient outcomes and to prove that the use of pharmacogenetic testing is better than the current standard of care.
The Center for Personalized Healthcare is driving the development of a new web-based decision support platform in close collaboration with our Genomic Medicine Institute. The platform will be used as a tool to facilitate the collection of family structure and disease history from patients. This information will be used to assess patients' risk for specific conditions which will be reported to the clinician along with evidence-based, clinically-actionable suggestions that can be used to guide clinical practice. Elements of this information will be integrated into the electronic medical record.
This project is being supported collaboratively with many clinical partners including key physician subject matter experts from many of our world-renowned clinical institutes.
Patient Journey – Hemochromatosis
Mr. X is a 40 year old man who comes to Cleveland Clinic for a wellness/preventive care visit. He is healthy and feels well, but he is concerned because his older brother died unexpectedly at age 45 of a heart attack. His brother had no medical conditions that Mr. X is aware of, although he remembers that his brother looked “tan” in his last year, despite living in Vermont. As part of his wellness visit, his primary care physician explores his family history in more depth. Mr. X had only 1 sibling (the one who recently passed away). His mother died of liver failure at age 50, although she was not known to be a heavy drinker. His father is still alive. His mother’s parents are both deceased: his maternal grandfather died of a heart attack early – just before age 45, and his maternal grandmother died of a stroke in her 70s. Mr. X has 1 child, a daughter, age 20.
Based on this family history, his primary care physician suspects a common genetic condition called hemochromatosis, a disorder in which iron levels build up in the arteries and organs. This can lead to cirrhosis of the liver and early heart attacks. He checks Mr. X’s iron levels and indeed, finds them to be high. He then refers Mr. X to a medical geneticist, who confirms the family history, counsels the patient about the implications of genetic testing, and sends a genetic test to confirm the diagnosis. Mr. X’s genetic test returns positive for the hemochromatosis gene. Based on all of these results, his physician sends him for a treatment to reduce his iron stores and prevent organ damage. Also based on his results, his daughter is advised to have regular blood tests to monitor her iron levels and to begin the same when her iron levels rise to above-normal levels.