By: Brandon Colby, MD
I was born with Epidermolysis Bullosa Simplex.  Growing up as a child with this disease, I painfully learned that while other children were running around carefree and playing sports, I had to watch from the sidelines. When I was old enough to understand that something about me was different, I asked my parents what had made me that way. Their response was, “It’s because of a change in your genes.” So, at an early age I came to two very important conclusions about genes: first, our genes determine much of who we are, and second, I wanted to find some way to subvert their sovereign control.
Since then, those conclusions have become the engine that drives my life’s mission to find ways to use genetic technology to fight against disease. I earned a degree in genetics from the University of Michigan, an MD from the Mount Sinai School of Medicine, and an MBA from Stanford University’s Graduate School of Business. I’ve also written a book, Outsmart Your Genes, the definitive layperson’s guide to genetic testing, and founded Existence Genetics, a company that provides first-of-its-kind personalized genetic testing services to the healthcare industry. I am no longer sitting on the sidelines.
In the past, there have been three strategies for fighting back against rare diseases: advocating for those affected, developing better treatments, and searching for a cure. Now, advances in genetic testing and analysis have added a new, very powerful strategy to the arsenal. By screening healthy individuals we can start to identify carriers of recessive rare diseases before they have children, empowering them with the knowledge that they are a carrier so that they can protect their future children against the disease. And we can identify people who have dominant rare diseases (including my form of EB) at birth so that treatment, education, and advocacy are put in place as soon as possible.
Predictive medicine, based on a combination of comprehensive genetic testing and individualized prevention of disease, is a new specialty that changes the medical paradigm from generic and defensive to personalized and proactive.
Utilizing cutting-edge technology, physicians can now offer predictive medicine services and conduct genetic testing for hundreds of diseases at a single time at a cost of just a few hundred dollars. In the past screening for many of the rare diseases (often referred to as “orphan diseases” because of their rarity and the unfortunate lack of resources directed toward preventing and/or treating them) was extremely costly and time-consuming. But now that genetic testing technology has become relatively inexpensive, we can start to screen for hundreds of rare diseases at the same time we test people’s risk for common diseases such as heart disease, cancer, and Alzheimer’s. What this means is that we can identify carriers before they have children and start to protect our future generations against rare diseases while we concurrently battle the common ones.  With this dual approach to genetic testing, orphan diseases will finally have found a home.
With predictive medicine and genetic testing –both of which will soon be coming to a doctor near you—we can predict disease before it occurs. If we predict, we can prevent… and when we prevent, we prevail.

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