The Promise of Personalized Medicine
Jan 27, 2015 10:00 PM
Recently, Willard H. Dere, M.D., FACP––an internationally regarded medical researcher and leader in the biopharmaceutical industry, and former U. faculty member––returned to the University of Utah to lead our Program in Personalized Health. Dere comes to us following 25 years in the biopharmaceutical industry where he held top posts at some of the world’s largest drug makers, such as Amgen and Eli Lilly. A history major in college, Dere offers an interesting perspective on advances in health care and the emerging role of personalized medicine. I’ve invited him as a guest blogger to share his thoughts on this transformative movement.
Ushering in a new era of medicine
In the 6th Century BC, Pythagoras cryptically pronounced in his writings, “avoid fava beans.” Legend has it that the Greek philosopher and mathematician objected so strongly to the vegetable that he met his death for refusing to run across a fava bean field to escape an angry mob. Whether this is true–– and why Pythagorus, and his cultish following of Pythagoreans, shunned favas––has been the source of much speculation.
Most recently, scientists put forward this theory: Pythagorus feared poisoning. We now know that for a percentage of the population with an inherited condition called “favism,” ingesting fava beans can be fatal due to lack of an enzyme (glucose 6-PD) needed to metabolize them. It’s a quirk of genetics that, not too long ago, could only be diagnosed after someone reacted negatively to the beans.
Such has been the traditional practice of medicine. Diseases are diagnosed, and success of treatments is measured through their effects on signs and symptoms, such as the growth or shrinking of a tumor. But we’re on the cusp of a new era. Advances in our understanding of the human genome, genetic and environmental factors such as diet or interactions with infectious agents, and molecular biology make it possible to understand the root causes of disease.
This emerging field of “personalized” medicine is true patient-centered care. It’s the recognition that each patient has a unique genetic makeup and is exposed to a set of environmental circumstances—and that treatments, particularly medicines, need to be more tailored to each individual’s needs. Pythagorus’ fear of favas represents one of the first stories of a genetic deficiency causing an adverse effect from an ingested substance. In modern times, there are many more examples of this and the field of pharmacogenetics––an initial pillar of personalized medicine––has been built on the study of the interactions of medicines with one’s complement of drug-metabolizing enzymes.
Today, we know that a subset of individuals with AIDS should not take the medicine abacavir due to a potentially fatal side effect. Similarly, a subset of breast cancer patients should take the drug Herceptin because their tumor cells carry a receptor which helps mediate Herceptin’s effectiveness. Tomorrow, we could have new medicines—developed through the efforts of identifying disease-causing genes, and specially tailored to interdict the protein products of these genes–– which could help prevent heart attacks or osteoporotic fractures. Personalized medicine offers us the promise of more efficacious and safer therapies.
But it’s bigger than just genomic medicine and oncology. The tools and technological advances enabling it are not just in genetics. They include major advances in biomedical informatics, epidemiology, biostatistical insights, the world of “Big Data” and decision-support tools to help physicians deliver care more consistently and in line with the best evidence and the individual patient’s needs. Advances also include smart phones and other instruments that measure patient glucoses, help titrate dosages of medicines according to one’s needs and remind patients to take their medicines.
I was moved to return to Utah for many reasons. First, the U.’s rich legacy of genetic discovery and resources like the Utah Population Database, the largest repository of family genealogies tied to public health and medical records in the world, make Utah a very attractive place for working in the arena of personalized health. Second, the generosity of the people in Utah who volunteer to participate in studies that advance our understanding of disease is critical for success. Third, the spirit of collegiality here with great minds like Mark Yandell, Ph.D., developer of computer-based tools for analyzing DNA sequences, such as VAAST, which is used at more than 200 research sites throughout the world, and Lynn Jorde, Ph.D., a world-renowned geneticist and leader in the field of understanding the genetic mechanism of high-altitude adaptation in the Tibetan population are a few examples. Lastly, the Utah Genome Project, a commitment to harnessing and directing the flow of scientific knowledge and resources to the bedside where it benefits patients is an incredible resource.
But probably the biggest point of persuasion was the U.’s commitment to actually improve health care, its desire to enhance the quality of care and transform health delivery systems in an integrated, interdisciplinary way, and to develop medicines and diagnostic tests based on newly discovered disease-causing genes. We are on the cusp of major breakthroughs for diseases that have reached epidemic proportions in the U.S. – cancer, diabetes, heart disease, obesity and Alzheimer’s. But breakthroughs are of little use, if we as a society, can’t afford to pay for them.
If the promise of “personalization” is realized, we can help transform our health care system to be more effective and efficient, and most importantly, improve patients’ lives by identifying disease earlier and treating it more effectively. It’s an exciting time to be in academic medicine and there’s no place I’d rather be than at the U.
- Will H. Dere, M.D., FACP, Executive Director of Personalized Healthcomments powered by Disqus