How the Genomics Revolution is Changing Everything We Know about Health and Wellness.
A Conversation Between Nebula Genomics CSO Sam A. Beeler and the ‘Founding Father of Genomics’ Professor George Church
The Genomics Revolution is ushering in a new era of science and medicine. It promises to be more impactful than the digital revolution, which changed our world profoundly. Whole Genome Sequencing (WGS) is at the heart of this revolution. At-home WGS tests give consumers an unprecedented opportunity to better understand their genetic makeup, and empowers informed decision-making that can lead to better health and wellness outcomes. The implications for population health are even greater, enabling precision medicine, accelerating the rate of drug development, supporting targeted clinical trials, and lowering the overall cost of care.
Nebula Genomics Chief Strategy Officer Sam Beeler sat down with Professor George Church, the scientist and serial entrepreneur who founded the company and is widely regarded as the “Founding Father of Genomics,” to explore ways in which the science of genomics is remaking healthcare.
Sam A. Beeler: Let’s start with the big picture. Can you share your perspective on why the human genomics revolution is so important for the future of health?
George Church: Well, the genomics revolution is much bigger than healthcare alone because of its impact on agriculture, forensics, history, biology, and a wide range of other fields and industries. But even if we focus only on medicine, it’s groundbreaking. For the first time in history, your genome is no longer your destiny. Understanding what your genes say about your predisposition toward certain conditions and diseases allows you and your physician to make smarter decisions about prevention and treatment, and there’s more to it than that. For the most part, your inherited genome remains the same throughout your life. But now, with genetic counseling and gene therapy, you can choose to change your genome just like you can change your environment or lifestyle. Change the environment or change your genetics or change both.
SB: So, it gives us a blueprint or framework, if you will, for significantly improving outcomes, while reducing or even eliminating the physical, financial, and emotional toll often associated with a specific diagnosis or treatment.
GC: That’s right. There are major implications for individuals, families, and society at large. For individuals, with a precise enough model, physicians can adjust the type of treatment, the category of drug, the choice of brand or the dose to result in much less unjustified morbidity and mortality. Then globally, trillions of dollars are spent on rare diseases. These diseases can be treated once they’re diagnosed, often with great expense and lots of pain — or they can be prevented for a few hundred dollars. Whole Genome Sequencing (WGS) is the key. For example, by spending a few hundred dollars on WGS, parents could potentially save millions in medical costs by making sure their children are born with the best shot at a healthy life.
SB: I’m glad you mentioned Whole Genomic Sequencing, the technology we use at Nebula for our direct-to-consumer at-home genetic tests. When WGS data is combined with lifestyle, environmental, demographic, and medical data, you create the opportunity to find meaningful and actionable insights that have significant predictive power for people worldwide. That said, there are millions of people who have taken a recreational DNA test and don’t understand how WGS is different. What can you share about the benefits of Whole Genome Sequencing over the more common at-home tests that use genotyping instead?
GC: With genotyping, you’re decoding less than one percent of your DNA. When you do a little piece of the genome, you might get some ancestry information, but very little actionable health data. As the name implies, Whole Genome Sequencing decodes 100% of your DNA. This allows for better interpretation of the results, significantly higher accuracy, and a much lower rate of false negatives – meaning areas where it may appear you’re free of genetic abnormalities but you’re not. If you decode the whole genome, you’re doing the best that you can do for yourself, your partner, and your children.
SB: What would you say to someone who figures that some information is better than no information? After all, the odds that you or someone close to you are a carrier for some rare disease is relatively low.
GC: Low odds are an acceptable risk if you’re playing the lottery. But they’re a terrible risk if you’re talking about your own life or the well-being of a family member. For example, there’s a sub-one-percent chance that you might die in an automobile accident. You probably take several preventative steps to protect yourself against those low odds: drive safely, don’t drive under the influence, buckle your seatbelt, and so forth. Why would you take the risks of not knowing beforehand and not doing everything you can do to protect yourself and your loved ones?
SB: Part of the challenge is that people mistakenly believe that getting access to the best genomic information available must be prohibitively expensive.
GC: The truth is that today, the difference in cost between genotyping and Whole Genome Sequencing is not even worth worrying about. In fact, WSG plus genetic counseling costs hundreds of dollars, whereas traditional medical treatment can cost hundreds of thousands of dollars to millions.
SB: This is why Nebula is dedicated to making sure that the best sequencing technologies, exploration tools, and personalized insights are available at a price that’s affordable for just about anybody. We are dedicated to putting the power and value of Whole Genome Sequencing into the hands of everyone throughout the world.
GC: And that’s an important point – not just for altruistic reasons. The interpretation of the genome at this point is a bigger deal than the technology behind it. As companies like Nebula have made WGS tests and comprehensive reports more affordable and raised the bar on data quality, the resulting feedback also has been improving the quality of the interpretation. We can’t just depend on data sets that over-index on Great Britain or Western Europe. We need to make sure the data sets truly represent the entire world.
SB: With Nebula having customers in over 130 countries throughout the world, we’re certainly doing our part to bring the power of whole genome sequencing to global populations while also creating diverse data sets that accurately reflect all of us. I’d like to switch gears. We’ve spoken at length about why genomics is a massive game-changer for consumers. Genomics is also poised to revolutionize the pharmaceutical industry. What opportunities do you see on that front?
GC: Today, approximately 90% of new drug development fails. Whole Genome Sequencing will allow for faster, better, more accurate clinical trials through better, more personalized patient recruitment. That alone, plus follow-on effects like improved drug labeling, could turn 90% failure into a 90% rate of success. I would also point to the development of so-called orphan drugs – pharmaceuticals that treat a rare condition for a small percentage of the population and, because of their limited use case, can cost millions per dose. Now, instead of millions spent on medicine and palliative care for very sick patients, one gene therapy treatment could, in theory, fix the patient for life. Because of the massive financial and public health implications, governments or insurance companies should be willing to help people pay for this. To give you a sense of just how high the stakes are, for rare diseases alone we could be looking at a multi-trillion dollar return on investment.
SB: I also see huge potential in pharmacogenomics, as sequencing makes it possible to tailor medications to the individual, improve treatments, and deliver even better outcomes. At Nebula, we see our partnerships with biopharma companies and leading academic research universities as a key component of our strategy for reinventing the pharma industry. We agree that WGS offers substantial benefits across the board – for individuals, for industries, and for the world. So, why aren’t more people getting tested so that they can take more control over their own health and wellness?
GC: It’s early. Back in the 1980s, if you asked somebody if they were interested in owning a computer, they’d look at you like you were a lizard from Mars. They couldn’t even imagine why they would want one. Fast forward to today and there’s been a significant change. People will stand in a line, wrapped around the block, waiting for the Apple store to open. That’s going to happen with sequencing. It’s a matter of whether you want to get in on it now or be part of the next wave. Either way, we’re not far from a day when billions of people use Whole Genome Sequencing to make more informed, more effective, health and wellness choices. The companies that make high-quality WGS accessible and affordable will reap outsized rewards.
About George Church, PhD
George Church is a Professor of Genetics at Harvard Medical School and Professor of Health Sciences and Technology at Harvard University and the Massachusetts Institute of Technology (MIT). His pioneering work has contributed to the development of DNA sequencing and genome engineering technologies for which he received multiple awards, including the 2011 Bower Award and Prize for Achievement in Science from the Franklin Institute and election to the National Academy of Sciences and Engineering. He is the co-author of Regenesis: How Synthetic Biology Will Reinvent Nature and Ourselves and more than 600 articles and papers, over 150 patent publications, has co-founded 46 companies, and initiated the Personal Genome Project. In 2017, Time magazine listed Dr. Church as one of the 100 most influential people in the world.
About Sam A. Beeler, MBA, MS
Sam A. Beeler is Chief Strategy Officer at Nebula Genomics. He is an accomplished healthcare executive with over 18 years of extensive leadership experience spanning multiple ecosystems, including hospital-based medicine, multi-specialty private practice, clinical research, and community health. Sam has served in progressive enterprise leadership, strategy, and operations roles for The Advisory Board, Advantage Care Physicians, TeamHealth, PivotHealth and more. He is the co-founder of a disruptive clinical research and human performance laboratory with clients that include championship athletes from the NFL, NHL, and MLB, gold-medalist Olympic athletes, the United States Navy Seals, and high net-worth clientele from around the world. He was also appointed as Director of Health & Human Services for one of the most densely populated cities in the United States. Sam holds an MBA from Cornell SC Johnson Graduate School of Management, a Master of Science in Healthcare Policy & Research from Weill Cornell Graduate School of Medical Sciences, a BA in Philosophy from Rutgers University and has completed executive-level coursework at Harvard Business School on Sustainable Business Models.
About Nebula Genomics
Nebula Genomics’ mission is to usher in the era of personal genomics by providing access to affordable and secure Whole Genome Sequencing. This is made possible by the contributions of Prof. George Church to the development of multiple DNA sequencing methods. In particular, molecular multiplexing approaches that enabled next-generation DNA sequencing (NGS) as well as long-read nanopore sequencing. Today, Nebula Genomics is turning these breakthrough technologies into products and making them available to people around the globe.