January 23, 2017 5 Opportunities and Obstacles in Personalized Medicine Advancements in genomics and personalized medicine make it increasingly practical/affordable to study all forms of a disease. We explore the potential. Craig Knighton Chief Operating Officer Disruptive innovation comes in waves, and the glut of genomic information now available presents both opportunities and obstacles to responsibly use, store and process it. This information has accelerated researchers’ ability to understand rare/possibly undiagnosed conditions. The problem? Often the detail and complexity the data offers goes well beyond what can reasonably be expected of primary care physicians or even specialists to track. If we overcome the barriers, how can healthcare data improve genomics and personalized medicine treatment success rates? Healthcare Data Opportunities in Genomics and Personalized Medicine 1. Genomic Mapping Costs Decrease Over the last couple decades, we have witnessed a driving force even more powerful than Moore’s Law — a dramatic decrease in the cost to map the human genome. The good news is these advancements in genomics and personalized medicine make it increasingly practical/affordable to study any and all forms of disease. Research can amplify to determine whether conditions have a genetic origin — from the complex, yet frequent to the rare, never-before-seen manifestations. 2. We Have the Space to Process and Store Data Once you have enough examples of the condition and normal genes to compare them to, it’s a matter of compute power to determine if there is a statistically significant difference in the genes to “explain” the condition. Each full human genome requires about 1.5 GB of storage — small enough to easily fit on the phone you carry in your pocket. If your phone is full of pictures, then you could only need to delete about 75 or so pictures to free up the space. If you happen to have a disease such as cancer that mutates over time as it metastasizes, then you would want the cancer itself sequenced at multiple points in time, yet that will still fit quite nicely on that new phone you got for Christmas. Space is not the issue. Healthcare Data Challenges in Genomics and Personalized Medicine If space is not the problem, then what is? We are up against three new fundamental limitations managing/applying genomics and personalized medicine. 3. Compute Power Remember Moore’s law? The rate at which we are collecting new genetic information is growing faster than the rate increase for compute power. Eventually, we reach a point where we can’t keep up even as we accelerate computer production with more processing power per machine. 4. Privacy Computers are great at efficiently making a large number of comparisons and observing differences across relevant samples of genetic information (or cohorts, to our friends in the medical research field) and calculating the statistical significance. But, computers can only operate using the information they can “see”. In our well-intentioned efforts to ensure that the privacy of our individual health records is maintained, we have also created a system that prevents us from using other health consumers’ genetic information to understand our own. 5. Knowledge Management Despite the privacy barriers, we are able to assemble enough information to study particular conditions at an ever-increasing rate. We are discovering, categorizing and exploring treatments for conditions that are considerably narrow in definition. The power of precision medicine to treat and even heal is unprecedented. The caveat? Primary care physicians, specialists, healthcare systems or even countries must be aware that the condition is known and treatable — hence the importance of knowledge management skyrockets. In a recent publication of Nature the American College of Medical Genetics and Genomics had this to say on the topic: “The considerable variation in clinical presentation and molecular etiology of genetic disorders, coupled with their relative individual rarity, makes it clear that no single provider, laboratory, medical center, state or even individual country will typically possess sufficient knowledge to deliver the best care for patients in need of care.” Each of us has a limited ability to master a particular domain of knowledge. As these domains get deeper and narrower, the likelihood that health consumers will happen by chance to work with a doctor who can recognize the problem and recommend the precise, proven treatment diminishes as our overall expertise grows. Humanizing the Solution While technology can not solve all of these problems applying genomics and personalized medicine, there are people at work to make sure that viable solutions are available assuming that we can overcome the cultural and practical concerns that exist. Tags DevelopmentSecurity Share Share on Facebook Share on LinkedIn Share on Twitter Medical Device Software Critical questions to ask before starting a medical device project. Download Share Share on Facebook Share on LinkedIn Share on Twitter Sign up for our monthly newsletter. Sign up for our monthly newsletter.