Genomics at Your Fingertips: DNA Sequencing in the Primary Care Office

Personalized medicine is on the horizon. Social media, wireless devices, mobile smartphones and emerging medical technologies have allowed us to track our own health indicators and monitor our bodies like never before. Genomics allows us to better understand why certain people are more susceptible to certain diseases and why disease may be more aggressive in particular individuals. Combining the power of data with the power of genomics will revolutionize the way in which we care for patients in the future–most likely this will occur in my lifetime.

Imagine a day in which you are given a prescription that is specifically made to target disease in YOUR body based on YOUR own genetic characteristics. The future of medicine is in genomics. Diseases that have been long thought incurable or untreatable may very well be cured and successfully treated through matching DNA and therapies. In the past genetic sequencing has been a tool of the research center and has been cost prohibitive for most–nearly $250,000 dollars per genome. Now, technology has improved significantly and sequencing is around $6000 dollars and is expected to drop even further.

This week in the New York Times, author Anne Eisenberg describes a new company that is marketing genomic sequencing machinery (cleverly calledKnome)–currently these are being sold to academic and private research laboratories at about $125,000 dollars each. However, in the not so distant future, I can imagine a world in which a primary care physician has a sequencer like the Knome on-site and is able to analyze your DNA when you come into the practice as a new patient. Your personal physician can then utilize the information for choosing your therapies for years to come. If you move or transfer care to another provider, your genome sequencing would transfer with you–just like your medical records do now. I would also expect that ultimately we would have an encrypted national database of our personal genomes so that when you are travelling and need medical care, a provider in an Emergency Department in another part of the country can (with your permission of course) access your genome data when prescribing therapy.

Certainly, genomics has much promise. We are just beginning to see the potential that targeted therapies can have on treating particular forms of certain cancers. As our knowledge of genomics increases and the availability of DNA sequencing becomes more mainstream the archaic data driven population approaches to treatment of disease are likely to be abandoned for more efficient, more effective and more directed, patient specific approaches. The transition to the genomic based practice of medicine will not be without difficulty. As we approach a time when patient-specific genetic information will be commonplace, we must prepare for the inevitable administrative responsibilities and controversy that are sure to arrive at the same time. Protecting individual privacy (and you think HIPAA is bad now) and avoiding discrimination for “genetic predisposition” to particular disease come to mind as potential hot button issues. However, the potential impact on our ability to practice medicine is infinite. As Dr Eric Topol clearly articulates in his book The Creative Destruction of Medicine, doctors will be able to combine data obtained from personal technology with powerful genome sequencing tools to provide the BEST medical care where drug effects are predicted and diseases are treated with certainty as opposed to a trial and error approach. Ultimately, the digital revolution will improve healthcare and allow for new technology and tools such as genome sequencing to be quickly incorporated into everyday practice.

So, one day in the not so distant future, I expect all of us will know our own genetic sequences. A visit to the doctor will likely include a look in your ears, a look in your throat, a stethoscope on your chest AND a quick glance at your DNA….