Personalized medicine has promised to radically change the way we look at health and disease. Talk of tailored drug therapies and early detection of cancer has captured the attention of scientists and lay people alike. So when will patients start to reap the benefits of this medical revolution?
The transition to personalized medicine won't be seamless or swift, says Lee Gutkind, who co-authored "An Immense New Power to Heal: The Promise of Personalized Medicine" (In Fact Books, May 2012) with novelist and science writer Pagan Kennedy. The authors explain the complex world of personalized medicine in an engaging, approachable story-telling style.
Gutkind is the distinguished writer in residence at ASU's Consortium for Science, Policy & Outcomes (CSPO) and a professor in the Hugh Downs School of Human Communication in the College of Liberal Arts and Sciences. He is also the founder and editor of the journal Creative Nonfiction.
In researching the book, Gutkind learned the tremendous potential for personalized medicine, and the obstacles keeping doctors from putting it into practice.
Giving up turf
One aspect of personalized medicine involves the use of genetics to get a detailed and accurate picture of human DNA and how it responds to disease. When the first complete human genome was sequenced in 2007, scientists gained insight into how genetic variations can predict certain diseases and disorders. The idea is that having access to genetic information will allow health care providers to take a more preventative approach to caring for patients.
However, physicians are traditionally reluctant to adopt new technologies. Most primary care doctors have little training in genetics, and many have never even heard the term "personalized medicine."
"When I started this book between 2007 and 2008, I could go to physicians in major medical centers across the United States and say the phrase 'personalized medicine,' and at least half of those people wouldn't even know what it was," Gutkind says. "Again and again, I had to define personalized medicine for the people who ought to have known 10 years ago what it meant."
Of the physicians who were aware of personalized medicine, few seemed eager to share their knowledge with colleagues and patients. Even most medical schools have yet to amend the curriculum to include genetics and personalized medicine. Gutkind attributes this to a lack of understanding of the importance and potential of personalized medicine. It also speaks to the physician's unwillingness to "give up turf" to the field of genetics, an area they may know little about.
"We want a revolution in health care, but we are not making the transition," Gutkind says.
The meaning of genes
It's understandable that doctors with no training in genetics would be wary of personalized medicine. But Gutkind was surprised to learn that even for a geneticist, garnering useful health information from genetic data is no easy task.
"I really thought we would be able to find a gene or two genes and connect them to all sorts of different diseases, and it would be in fact a simple matter to slowly but surely deal with the biggest challenges in the medical world," Gutkind says. The reality, he found, is much more complicated.
Imagine being handed a thick book of sheet music and having to comb each line for mistakes. Even if you were a skilled musician, the job would be daunting. That's similar to what a geneticist must do when examining a sequenced genome. When one does find a genetic variation, it's rarely obvious what disease or disorder may come of it.
Further complicating the process, a person's environment and behavior can actually alter their genome. This makes it difficult to determine if a genetic variation is really to blame for a certain disease, or if it is the result of external factors. Additionally, many diseases, including diabetes and most cancers, are caused by small variations in multiple genes, which can be hard to decipher.
Finally, genome sequencing runs about $10,000, which doesn't include the cost of storing and interpreting the data. While that price is expected to drop significantly in the next few years, Gutkind says there's no guarantee that our ability to translate genetic data will improve as sequencing becomes more affordable for the average patient.
Scientists have made some progress in linking genetic variations to diseases such as Parkinson's and type 2 diabetes. But these connections are not conclusive, and account for only a small fraction of diseases thought to have a genetic link.
Outside of genetics, other aspects of personalized medicine have been applied successfully. Joshua LaBaer, director of the Center for Personalized Diagnostics at ASU's Biodesign Institute and professor in ASU's School of Life Sciences, has been using protein molecules called biomarkers to develop better therapies for breast cancer. Another promising development in personalized medicine is the field of biomedical informatics, which would fully digitize information about patients, medications and research. That way, doctors have easy access to a bounty of information to create more effective and efficient treatment plans.