It cost over $3 billion and took almost 13 years to sequence the human genome for the first time, a task that was only completed a little over ten years ago.
Instead of our current one-size-fits all treatment for most diseases, many envision a future in which we will be able to tailor medical treatment based on one's underlying genetic information, a medical model known as personalized, or precision, medicine.
To better understand what it will take to reach these aims, which will require further advances in many disciplines and have implications stretching far beyond the field of medicine, University President Lee Bollinger recently announced the creation of a task force on personalized medicine.
“When there are major advances in our knowledge that can be translated in very important effects for the world, we want to make sure as the university we are doing everything we can to facilitate that,” Bollinger said at last week's University Senate plenary.
The task force, co-chaired by Provost John Coatsworth and Dean of the Faculties of Health Sciences and Medicine Lee Goldman, brings together almost 40 faculty members across the entire university. Unlike other institutions, including various cancer centers, that are also working in personalized medicine, this task force will use a University-wide approach, rather than just a medical one.
The opportunity is really here now'
“They have the foresight to realize that this is not just a medical center problem, that this really permeates every different aspect of what we do at Columbia,” said Dr. Wendy Chung, director of the Clinical Genetics Program at the Columbia University Medical Center and member of the task force. “It's going to be challenging, I think, to get people who speak different languages to come together and to realize what they can contribute but I've never seen any other initiative where so many people have come together to try and make it work.”
Though the task force has yet to meet, it plans to produce a report next fall that outlines what Columbia should do in this emerging field of medicine.
“It's almost certainly one of those things that you can't just leave to chance to happen. You have to get organized, you have to get the infrastructure, you have to figure out the kinds of intellectual work that you need to do,” Bollinger said.
Personalized medicine will ultimately be the result of a more comprehensive understanding of the genetic underpinnings of disease, but to get to that point, researchers need more data than is currently available.
Medicine and data science are becoming intertwined at an even faster rate in recent years. In 2008, only between four percent of doctors and 14 percent of hospitals used electronic records. That number has since increased to 50 and 75 percent, respectively.
These records could be combined in the future with patients' genetic information to create an enormous database on the human body—something that would lead to advances in genetics, which will also pose fundamental questions about how we view ourselves.
With the costs of whole genoming sequencing dropping rapidly, many researchers believe that the world is on the cusp of even larger revolution in genetics. Earlier this week, Craig Venter, one of the scientists who helped sequence the first human genome, announced the formation of Human Longevity, a new company that plans to study the effects of aging by sequencing 40,000 human genomes per year.
“The opportunity is really here now,” Chung said. “I think if they had thought about starting this initiative five years ago when some other institutions did this, I don't think they would have had as much traction.”
One gene, one disease'
“Originally, 10 years ago it was thought that we'd find the cancer gene, the intelligence gene, the diabetes gene, but it turns out it's much more complicated,” Dr. Robert Klitzman, director of the masters program in bioethics at Columbia, said.
Although researchers have already discovered links between individual genes, and certain diseases like Alzheimer's disease and breast cancer, this is not the case for the vast majority of the diseases. Progress has been slow since genetics alone is often insufficient at predicting whether someone is at risk for disease. Klitzman, who isn't a member of the task force, said that diseases are regulated by many genes, and environmental factors can also shape gene expression.
“We are not at one gene, one purpose anymore,” said Dr. Gerard Karsenty, chair of CUMC's department of genetics and development and a task-force member. “We are now defining genetic networks. We have sequenced the whole genome, and we know the sequence of all the genes, but we do not know all the functions of all the genes.”
Dr. Paul Appelbaum, a professor of psychiatry, medicine, and law at CUMC and another member of the task force, said that cancer is probably the best example of personalized medicine having a big impact.
“Tumor samples are being sequenced and individualized chemotherapy regiments are being developed to target specific mutations. It's an amazing conceptual advance in the treatment of cancer,” he said.
Chung said that current difficulties in understanding disorders caused by multiple genes may be caused by a narrow definition of disease.
“I think one of the things we're coming to appreciate is that within what people think of a single disease there are really many different diseases from a molecular point of view embedded within that single disease,” Chung said.
“This is where the precision comes in: If you know the precise molecular trigger for this, and get at the root cause of this, you can probably be more effective and have less collateral damage.”
The Road Ahead'
Despite the challenges that lie ahead in the new field of personalized medicine, members of the task force said that they are optimistic that these developments in genetics and data science will ultimately lead to better individualized medical care.
“We're still very far away from the time where you can take ones entire genome and perfectly predict risk of every disease under the sun,” Chung said. “At the end of the day we're going to have to be able to prove that we're doing a better job but I do think we can do better than what we're doing now.”
Data collected today has the potential to be useful once our understanding of the information encoded in our genomes has improved.
“You need some mechanism in the future with personalized medicine to effectively come back to the genome and recheck it based on what's recently been published. We're going to learn over time how to use that information,” George Hripcsak, the chair of the biomedical informatics department and task force member, said.
Appelbaum also remains optimistic about where the field is heading.
“Personalized medicine won't be a moment, it'll be a process,” he said. “I expect to see an increasing number of personalized medicine interventions implemented here and elsewhere, and probably at an increasing rate.”
Goldman compared the field of precision medicine to the 20th-century Space Race.
“Just as putting a person on the moon required more than just rockets, personalized medicine will be the result of discoveries, inventions, and research in medicine as well as many other fields,” Goldman said. “It's on that same scale.”
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