Dawn Barry There Is Nothing More Personal Than Your Genome TEDxSanDiego 2016
What if you could predict if your health was going to break? This question really sticks with me. My phone. My car. They tell me when they’re going to break. But my parents’ health, some of the most precious machinery, broke down without any warning.
What if we could better understand our predispositions to developing cardiovascular disease, diabetes, neurological conditions, cancer? How might our healthcare be more personalized, preventative, participatory based on knowledge of our disease predispositions?
We wait for something to hurt. We feel around for lumps. We check for something to just not look right. By the time these things manifest in our body, something’s broken. We live in a world of remedial medicine. We engage with the healthcare system largely when a problem presents itself that we need to fix. We react to disease, but we rarely get ahead of it.
What if we could look a little deeper, not just for the signs and symptoms of something gone wrong, but at our foundation? Literally at the DNA blueprint that builds us to get proactive about our health and understand the health strengths that we can leverage and the weaknesses we can try to work around.
I’m up here today to convince you that your genome holds the promise to help predict your health. Let me tell you about a genome, because it’s fascinating. Inside each and every one of your cells is a code of instructions for life. This is your genome. It’s the ingredients list and recipe for making every living thing. It’s uniquely yours, like an invisible signature. You inherited 50% from your mom and 50% from your dad.
Your genome is written in a four-letter language of DNA, G, A, T and C. Genome is just a fancy word for the entire collection of your DNA. Genome sequencing simply means revealing and putting in order your Gs, As, Ts and Cs.
If genome is the instruction manual for you, your genes are the individual chapters within that book. We have genes that code for making eyes, lungs and a heart. We all have the same genes. In fact, we’re 99.9% genetically identical across all humans. But as you can clearly see by looking around the room, we’re different.
It’s that .1% genetic variation that exists between us that makes us unique. Unique in the color of our eyes and the texture of our hair. Unique in our perception to taste. Unique in our response to medications. Unique in our predisposition to disease. Your genome holds the promise to help predict your health.
This biology lesson would be over if it was as simple as your genome predicts your life. But alas, it’s a little more complicated. You have outside influences, lifestyle, environment and nutrition, that can play a role for or against your genome. Imagine an individual with an increased genetic risk for lung cancer. If this person smokes and works in a coal mine, as you can imagine, they will have a higher likelihood of developing the disease than someone who doesn’t smoke and works in an office.
Your genome is the instruction manual for you, but it’s not your destiny. Your DNA is not your destiny. Let me bring this back to you and why it’s important to your health.
Fact: Genetic factors are known to play a role in nine of the ten leading causes of death in the United States. That’s 90%. Ninety percent of the leading causes of death have something to do with your genetics, yet hardly any of us have accessed our genetic information. It’s just not part of our healthcare.
We need to do better. I believe doing better means understanding your genome as a matter of course in your wellness management throughout your life. This is called personalized medicine, leveraging genome information to flip the emphasis in healthcare from reaction to prevention, and from disease to wellness.
I’m extremely passionate and committed to this space. I’m sure many of you have been asked, what drew you to your particular profession? What was that moment? For me, it was never a moment but rather a series of moments that drew me towards genomics. In 2012, I knew I was exactly where I needed to be.
In the course of one year, I lost both my mom and my dad to cancer. Both cancers were caught late. Both cancers moved throughout their bodies. Both cancers did not respond at all to chemotherapy. What a mess that year was. I’m a planner. I like a fair amount of control. I don’t like showing sadness. Unfortunately, it makes me feel weak.
Having two parents dying before me was terrible. But I was going to get through it. I was going to lead my family through it. I was not going to miss a beat on my path to becoming a biotech executive. I was going to be a great wife and an awesome mom to my two and four-year-old at the time. I was going to be a good daughter. Like a lot of women, we take on a lot. We expect a lot of ourselves.
After my parents’ health slipped from bad to worse, the ability to control the situation slips away. I start skipping business trips when Hospice calls to say, “It’s time,” which was, sadly, more than a few times. After my dad had passed and my mom was struggling, my awesome boss at the time called me out for using work as a distraction for life, which I was doing. At least I was in control at work. He said, “Dawn, I need you to schedule some time to be sad.”
I’m still sad but I’m okay with that because sadness powers me to work every day, focused on how we can keep people healthy by leveraging the power of the genome. Sadness causes me to reflect and ask how my parents’ situation could have turned out better. Could the information in their genome have helped us understand their predisposition to cancer?
Once the cancer presented itself, could we have treated it with more precision? Could we have been monitoring the growing amount of tumor DNA in their body so that we could have detected it sooner? Can we do better than just react and poison with chemo, burn with radiation and carve out tissue? This is the promise of personalized medicine and why I’m so passionate about it.
Personalized medicine is still in its early days. Some of you may remember the Human Genome Project. In 1990, the US Government initiated a challenge to sequence the first human genome. It took 13 years and $3 billion to complete a single genome.
Today, based on technology invented right here in San Diego, we can sequence entire genomes in a day at a cost of about $1,000. Since having access to such powerful technology, we’ve made tremendous strides in our understanding and applications of genomics in areas like reproductive health, carrier screening, adverse drug response, tumor sequencing, rare and undiagnosed disease. There is no question that we have improved patient care and even saved lives based on genomics. We know the technology works.
But we don’t know enough yet for it to be applied preventatively, proactively. We need to decode more of the genome to unlock its complete potential. Who’s going to do that? Who’s going to decode more of the genome so we can use it preventatively? This has typically fallen to scientists who seek grants, collect samples, hopefully make publications.
But I believe there is a better way. By engaging the community. We don’t know more about the genome because we, quite simple, haven’t sequenced enough genomes. It’s a scale problem. What we do know is based largely on the study of white males, so we have a diversity problem. By engaging the community, we can put all of the parts and pieces together.
I have my genome information. My doctor and I know my family history, health history, lifestyle, environment and nutrition. We put all of the information together and then we multiply by a large and diverse population. This creates a rich data set that computer scientists and geneticists can dig into, to start to look for patterns and associations that form the basis of genetic health connections. Such a data set doesn’t exist.
My position is this. The greatest and fastest change can happen at the level of community. By engaging the community, we can bring in the diversity we’re so sorely lacking in science. By engaging the community in a meaningful way, we can create long-term relationships between individual and researcher so that they stay in touch about changing personal and health information.
By engaging the community, they can feed back to technology companies and doctors so that the right solutions are built to solve the right problems. Of course, because the community must embrace and support genomics if personalized medicine is ever to take root.
I believe the community should be engaged as research partners and not just sources of samples. I know what it’s like to experience the science. I had my genome sequenced as part of an Illumina program called Understand Your Genome. It’s exciting and a little bit scary to have your genome sequence. It’s all about probabilities and not certainties. DNA is not my destiny. I know all of these things, but there was still a fair amount of anticipation.
Friends asked me, “Why did you want your genome sequenced? Why not just let the song of life play out?” This is an important question because it’s a personal decision that may present powerful information. For me, I’m naturally drawn to the innovation. But most important to my decision was in my role as a mom. I believe knowledge is power. Not only that, it’s my responsibility so that I can be in the best position to care for my daughters as long as possible, as healthy as possible.
Was my genome valuable to me? Absolutely. First, I learned that I’m a carrier for a rare recessive condition. It’s unlikely that my husband is also a carrier, but I’ll watch my daughters’ health and talk to them about carrier screening when they’re older. Second, my genome had value to society. Just having my genome sequenced helped the scale problem I mentioned earlier.
My genome helped science. Third and most important was the impact my genome had on me and the clarity it may reveal about the past. I learned from my genome that I’m unlikely to respond to the typical course of cancer chemotherapy. Sound familiar? I’m 50% my mom and 50% my dad. I believe this information would have helped them. Perhaps we should have treated their cancer with a different chemotherapy. Maybe we should have skipped chemotherapy altogether.
The healthcare system of the future will have your genome on file as a resource to be queried throughout your life, from planning a baby to making sure that baby has a healthy start, to preventing disease and encountering disease in the environment, to choosing medications best suited for your unique biology. When people pass away, we have a proper understanding of why they died so that we can inform family survivors and possibly avoid untimely death of future generations.
Please notice genomics more in your everyday lives. Seek out more information. Start a conversation. Be an advocate. You’re closer to influencing this change than you think you are. Let’s not just wait for things to break, especially when those things can be the lives of the people we love.