On March 9th, Jennifer Logan, Ph.D. spoke at the Leonardo After Hours “From Helix to Healthcare” event, co-sponsored by the Leonardo and USTAR. She is Program Director for Personalized Health Care at the University of Utah. The following is based on her remarks.
It’s ten years from now, and you’re perched on your physician’s examination table. Your doctor is consulting an electronic tablet that contains your health history, including a representation of your whole genome sequence. That vast and complex data set has become a standard part of your medical record, and will influence the doctor’s decision as she enters a prescription order for a specific medicine best suited to treat you. She is confident of a good outcome, that a debilitating condition has been nipped in the bud.
The first human genome sequence took a decade to complete and cost $2.7 billion. Scientists can now sequence a human genome in a few days at a cost of $50,000. In a decade, the sequence should take a few hours to process for less than the cost of a steak and potato dinner (which you shouldn’t have given your family’s predisposition to high cholesterol).
What will that sequence tell your doctor, and what impact will it have in the long run when access to personal DNA data becomes ubiquitous?
A genome sequence can be thought of as a blueprint. It contains three billion base pairs of DNA, which in turn comprise tens of thousands of genes. This blueprint is “read” by each of your 100 trillion or so cells. These cells are like construction workers who build the house that is your body. You hope the plans are solid.
Of course, the maintenance will get you too. Add time, natural aging of the building materials, sun, wind, pests, trauma, and a raucous party or two. Things can get a little creaky around the homestead.
At the current state of the art, our technical ability to process the genome far outpaces our ability to interpret the data. With a few exceptions, we can’t read the genome, weigh environmental factors and aging, and then confidently predict the long-term health implications of a given set of genes. In other words, we understand what personalized medicine will do for us someday, but we are less sure how to make it happen.
Ten years from now, we will have made progress in achieving three main objectives of personalized medicine:
- Wellness – The medical community will increase its focus on maintaining health rather than treating illness. Your genome will help your doctor predict health risks you might exacerbate in different environments, and prevent problems before they start.
- Early diagnosis – Your doctor will be able to detect problems before they become symptomatic. This could make all the difference in treating diseases such as Alzheimer’s and Parkinson’s.
- Treatment – Hand in hand with a more precise diagnosis comes the best available treatment. Currently drugs are effective in about 50 percent of cases, and a significant number of those cases incur detrimental side effects. Genetic information and environmental predictors will give physicians the ability to prescribe the best course of treatment with minimal detriments.
There is a well-worn phrase for personalized medicine that describes it as “The right treatment for the right patient at the right time.”
I happen to think that adage needs updating. “The right information for the right person at the right time” is more accurate.
Why? The old phrase glosses over the reality of our current information bottleneck, where technology outpaces knowledge, and we are unable to turn ever-expanding banks of data into best practices that help people live fuller lives. It also doesn’t account for the reality that even the best diagnosis and treatment approach will be useless unless people understand it, and know how and when to apply it.
The “person” is the new phrase refers to the doctor, the patient, the patient’s family, and ultimately the community. Expanding capabilities in personalized medicine will bring on a new age of participatory healthcare.
There are challenges before we see that new age. These range from informatics and data management, regulatory and policy issues, awareness in the research community and general public, as well as a slew of social, legal and ethical considerations.
The good news is that Utah is well positioned to make personalized medicine a reality. We have research strengths in genomics, informatics, diagnosis, and healthcare delivery, as well as a collaborative environment. We have a tight community that supports this research and has a strong spirit of altruism. We have people and organizations that see the big picture, such as Intermountain Healthcare and other systems, the University of Utah and Utah State University, USTAR and the Utah Department of Health, various patient advocacy groups and the religious community. We collectively can knit our efforts into an effective sum greater than our individual parts.
About USTAR:
The Utah Science Technology and Research initiative (USTAR) is a long-term, state-funded investment to strengthen Utah’s “knowledge economy” and generate high-paying jobs. Funded in March 2006 by the State Legislature, USTAR is based on three program areas. The first area involves funding for strategic investments at the University of Utah and Utah State University to recruit world-class researchers. The second area is to build state-of-the-art interdisciplinary facilities at these institutions for the innovation teams. The third program area involves teams that work with companies and entrepreneurs across the State to promote science, innovation, and commercialization activities. For more information, go to www.innovationutah.com or follow http://twitter.com/Innovationutah.
The next Leonardo After Hours event in June 8th. Check www.theleonardo.org for updates.
