And Suddenly Everything will be Different - Biology’s iPhone Moment
Ten years ago, Steve Jobs introduced the iPhone. As Steve put it: “we’re introducing three revolutionary products of this class…an iPod, a phone, and an Internet communicator. An iPod, a phone…are you getting it? These are not three separate devices, this is one device.”
What few remember is that this “iPhone moment” was more than two decades in the making. Back in 1987, Apple started development on the Newton MessagePad, its first and failed attempt at a personal digital assistant. Apple was way ahead of its time in envisioning both the iPhone and the iPad, but it took 20 years to bring the right product to market. Why so long? Because Apple had to wait for the technology: faster processors, new operating systems and applications, digital cellular, better touchscreens and improved battery technology. Over the course of that 20 years, every piece of the technology destined for the iPhone got better enough, so that when Apple recombined them in one package and announced it on January 9, 2007, magic emerged. Magic that transformed the user experience and made smartphones a natural and essential part of our lives. Magic so profound it changed the world.
I believe we’re about to have our iPhone moment in personalized health and medicine. What is different today is that unlike earlier approaches, which were driven largely by genomics and generally provided limited insight into our future or “fate,” this new technology will be driven by the digitization of “state” biology. Today we can measure protein and RNA expression, immune signatures, annotations to DNA, and our biome at scale. We can now begin to combine these tools with real world patient outcomes, experience, environment, care and advanced machine learning.
Proust once wrote: “The only true voyage of discovery, the only fountain of Eternal Youth, would be not to visit strange lands but to possess other eyes, to behold the universe through the eyes of another, of a hundred others, to behold the hundred universes that each of them beholds, that each of them is.”
The new eyes we found are the patients themselves. More than 500,000 are using our patient-centered personalized health network to observe and learn from the natural experiments they and others do every day to improve their lives. The iPhone magic we imagine is what will happen when we combine a network of patients, the health system and the new technologies that can measure state biology.
The importance of the change from fate to state should not be underestimated. In 2000, seven years before the iPhone announcement, John Craig Venter and Francis Collins announced that they had read the entire code of a human being. Since then the task has been to figure out what that code means. The power of DNA is that, for some components, when they break, the system breaks. Just one change in the “sentence” of the SOD1 protein, for example, makes it highly likely that a person will develop amyotrophic lateral sclerosis (ALS) during their lifetime.
While thousands of traits or phenotypes can be linked to specific changes in a gene, these discoveries are not generally meaningful for most people. As it turns out, the hard part isn’t figuring out the consequences when something in our DNA is different. The hard part is figuring out what to do about it. More importantly, the vast majority of disease is connected to environmental, behavioral or other factors into which DNA provides limited insight. For those of us who are trying to study what regulates inflammation or neurodegenerative disease, or even simply what might improve our well-being, DNA makes it fairly easy to find the things that break the system, but very hard to find the ones that modify and could improve it.
To understand health and disease, or help someone manage their pain or depression, we need to use these tools together. The answers exist in our own bodies, choices, and environment. We just need to observe them. This is what will free us from the current one-size-fits-all approach to health and medicine and create the beginning of what we have been seeking for so long: precise guidance about where each of us is on our health, disease and aging journey, and insight into where the changes we make in our lives, treatments and environments should take us and when. More important it can enable feedback about the accuracy of our predictions, closing the loop and creating a truly personalized learning health system.
The key to this new way of seeing is a new user interface that maps the journey of life with our own eyes and those of everyone like us. That system must connect the data about our own experiences, healthcare, history and biology, and link us to millions of others so that we’re contributing to and learning about the best path forward to optimize our collective health. PatientsLikeMe built the first generation of this user interface 12 years ago and continues to evolve it today.
My own voyage of discovery began when my brother Stephen was diagnosed with ALS in 1998, and it was through his eyes that I discovered the limits in the system of discovery, development and healthcare. As Stephen was just beginning to decline, Craig and Francis were finishing the first genome, and I founded the ALS Therapy Development Institute (ALS TDI). We used the most advanced applied genomic technology to try to save him, but the technology of the day was not enough. Technology did make his life better though, and our family of MIT engineers built the most advanced wheelchair possible. Stephen could drive it and play music, or read to his son with a twitch of a muscle on his jaw. It was magic, and Stephen loved it, and he would have instantly recognized the magic Jobs created with the iPhone, but he did not get the chance to see it. Despite nine years and $50 million in effort, we lost Stephen to ALS months before Jobs announced the magic of the iPhone.
Moments are instants, but their effects are eternal. The idea that technology can allow us to understand biology, that networks can bring us together in new ways, were mere dreams a decade ago. Today they’re real in every element. We may not have to wait long before the iPhone moment in biology gives us a new way to see. I wish Stephen could have seen it, because he would have loved it.
