The Age of Omics: Opportunities, Transformations, and Paradigm Shifts

I admit I am not your typical citizen scientist. Over the course of the last two years I have had my DNA sequenced by three different companies and another test kit should be arriving in my mailbox any day. I have also had quarterly blood draws that have allowed me — and a health coach who is advising me — to track a panel of biomarkers that provide insights into how my lifestyle choices are affecting my personal biochemistry. And there’s more: I am committed to keeping my Fitbit on and active continuously, and I have also had my gut microbiome analyzed four times, leading me to feel like I am on friendly and familiar terms with the bacterial community that accompanies me wherever I go.

Is this a portrait of self-obsession or perhaps 21st century hypochondria? Actually, no. It’s much more exciting than that. It is evidence of a revolutionary sea change in healthcare that is based on personal empowerment, accessible digital technologies, and the democratization of data. We are living in the age of omics, which means that both healthcare professionals and private citizens have a range of new tools available — genetic testing arrays, microbiome composition tests, metabolomics — that can provide incredibly detailed information about physiological function. Although my activities collectively may be evidence of a person with an unusual enthusiasm for personal data monitoring, consider this very important fact: all of the testing options and devices I describe above are now widely available (and at relatively affordable prices) to anyone who wishes to learn more about how their body is functioning. Even just one decade ago this was not only impossible, it was also unthinkable. Tests were ordered by doctors. Biologic samples were collected by laboratories. And consumers only received results (and interpretations) that their physician authorized. This old model — one that not only limited access patients had to their own personal information, but also likely hindered potential advancements in medical research due to lack of collaboration and data sharing — is falling fast. This is the power of the omics revolution and it is poised to transform every aspect of medicine.

Here are 3 ways it is already happening:

Research is Evolving

Medicine has always been data driven. What this means is “standard of care” — the way doctors diagnosis a condition and then the steps they recommend for treatment — is generally a protocol that has been studied in multiple clinical trials involving hundreds and sometimes thousands of people. The data from these trials are then published in the medical literature, and healthcare providers around the world begin using the approach in clinical practice. In theory, this all sounds very reasonable. In the real world, however, this methodology is fraught with flaws. Perhaps most significantly, this system — at the center of which is the study design called the Randomized Controlled Trial (RCT) — is based on population averages rather than individuals. But every person is unique (an n-of-1, as we say in science and medicine circles), and therefore there is a growing recognition that designing treatments for statistical humans is a practice that is falling short in terms of both rationality and success.

Today, several forces are converging in ways that are challenging the once unshakeable belief that the randomized controlled trial is the gold standard for clinical research. The field of genomics has exploded over the last several years, which has made genetic testing and analysis accessible to the general population. Advancements in personal digital technologies have made it possible to easily collect detailed information about a variety of lifestyle factors that affect health, such as diet, activity level, sleep, and stress. On a parallel track, technologies that support big data and analyses of informatics have transformed the ways in which information can be examined, sifted, and applied. And underlying all of these new developments is the rise — and staying power — of social networks. The internet and the social communities that have come to exist online have fundamentally changed how the world communicates.

In April 2015, Apple launched a platform called ResearchKit, which is designed to be an open source tool that can support medical research using interactive apps that people can install on their iPhones. These apps allow researchers to recruit participants for large-scale studies, and they remove many of the barriers that have hindered recruitment in the past, such as physical proximity to a clinical research facility. Importantly, ResearchKit provides a mechanism for an informed consent process, and this may prove to be a valuable tool in measuring how willing the general population is to share personal health data if doing so may one day lead to research breakthroughs and more effective treatments.

It is significant that individuals and teams from some of the most prestigious research institutions in the United States collaborated with Apple in the development of apps for ResearchKit. Studies associated with the following conditions, research groups, and digital development companies were all active at the time of ResearchKit’s launch, which is evidence of a high level of cross-disciplinary collaboration:

· Asthma (Icahn School of Medicine at Mount Sinai, LifeMap Solutions)

· Breast Cancer (Dana-Farber Cancer Institute, Penn Medicine, Sage Bionetworks, UCLA’s Jonsson Comprehensive Cancer Center)

· Cardiovascular Health (Stanford Medicine)

· Diabetes (Massachusetts General Hospital)

· Parkinson’s disease (Sage Bionetworks, University of Rochester)

Dr. Dennis Ausiello is the Jackson Distinguished Professor of Medicine and Director, Emeritus of Harvard Medical School. He is also Chief Emeritus of the Massachusetts General Hospital and is currently Director of the Center for Assessment Technology and Continuous Health (CATCH), the group that developed the GlucoSuccess app for ResearchKit. In 2015, Dr. Ausiello spoke at a conference sponsored by the nonprofit organization I lead, the Personalized Lifestyle Medicine Institute, and he described the incredible transformations he has witnessed in both medical research and clinical practice over the course of his very distinguished career. To continue the forward progress in the future, Dr. Ausiello describes a model of partnerships not only among researchers and clinicians, but also with the Apples and Googles of the world, and perhaps most importantly with patients.

The Wellness Economy is Expanding

How will the personal services marketplace be influenced by the omics revolution? In fact, we already have an excellent example of future trends that focus on personalization, both in terms of data analyses and actionable lifestyle strategies. In the spring of 2015, a press release started circulating — and making headlines — about the launch of a new scientific wellness company called Arivale. It was especially exciting news in Seattle, where I live and where Arivale is headquartered. Arivale is a spinoff company that was formed as a result of research into personalized medicine that was done through the Institute for Systems Biology (ISB), a Seattle nonprofit led by National Medal of Science recipient and genomics pioneer, Dr. Leroy Hood.

Arivale co-founder, Dr. Nathan Price, describes scientific wellness as a proactive approach to health focused on minimizing disease and optimizing wellness. The Arivale team has developed a model for clients that is very focused on personalization using a combination of assessments, analyses, and ongoing coaching. Less than a year into its existence, the company had more than 100 employees and had raised $39 million in capital funding. They have over 1000 clients in the Seattle region alone. As they expand into other states, Dr. Price expects Arivale to have 10,000 clients by the end of 2016 and 50,000 by the end of next year. Arivale’s success is an extraordinary indicator of the interest and enthusiasm people have for engaging with their own health data and using that information — with appropriate guidance — to inform the decisions they make about their present and future health.

While Arivale is successfully demonstrating the readiness for personalized services in the public sphere, initiatives are also taking place in more institutionalized settings. In March 2016, the Institute for Systems Biology announced a collaboration with Providence Health & Services, a health network that has a patient population of 3.3 million individuals in a five-state region. This new initiative is expected to not only create a more pronounced emphasis on wellness, but also to use anonymous health data in ways that will inform further research.

Clinical Practice is Transforming

Wellness and personalization in healthcare are definitely trending. But how is this shift in thinking transforming the practice of medicine at its most grassroots level: the relationship between doctor and patient?

On a recent trip to New York City I was invited to visit the offices of Dr. Robin Berzin. Dr. Berzin is the founder of an innovative functional medicine practice — Parsley Health — and I was grateful for the opportunity to learn more about how she interacts with her patients in her daily work. Parsley Health is a membership-based wellness practice. Dr. Berzin and her team see patients both in-person and virtually via video, phone, or email. She offers — and encourages — a range of omics-based testing options that inform the design of personalized wellness programs. Dr. Berzin is a respected expert in the field of digital health and uses wearable devices and other technology regularly in her practice. Notably, Parsley Health members are offered 24/7 online access to their secure medical records — a practice that is not widespread among physicians as of yet, but should be encouraged as the physician-patient partnership model continues to evolve.

Dr. Jeff Bland and Dr. Robin Berzin

When Dr. Berzin speaks of wellness, she describes it as more than just biomarkers and biometrics. Rather, it is the creation of a whole and meaningful life in which the patient feels empowered and can make changes that allow them to build awareness and use the tools that are available to optimize their personal function. She sees herself as both a guide and a translator of information, but the control and the power lies with the patients themselves: “We have to get beyond the world where the doctor manages your care plan and your data for you. Connected devices are simply a vehicle for one piece of that. I think they offer promise to transform research, but also to just transform the way that people take ownership of and get involved with how they think about their health.”

If you have not yet considered your own place in the omics revolution, now may be the time. The spectrum of options available to individuals is both diverse and accessible. We are moving into a world that places value on the participation and the power of patients. Your entry point may be as simple as a phone app or as ambitious as embarking on a lifelong personalized wellness journey — what’s most important is that today you have the power to choose your own path. Science is becoming more humanistic and translational. I believe there has never been a more exciting time in medicine.

Do You Want to Learn More?

The Personalized Lifestyle Medicine Institute organizes an annual conference called the Thought Leaders Consortium. In 2015, Dr. Dennis Ausiello, Dr. Nathan Price, and Dr. Robin Berzin were featured presenters at this meeting. Videos of their presentations — as well as others on topics pertaining to omics and healthcare — can be viewed for free at the nonprofit website: http://plminstitute.org/.