The Third Wave: How Genomic Medicine Will Accelerate the Move to Value

The Third Wave: How Genomic Medicine Will Accelerate the Move to Value

by dparker

In 2011, I was fortunate to participate with a group of a dozen highly talented individuals in the health care industry thinking about health care innovation and transformation as part of what ultimately became the Oliver Wyman Health Innovation Center. Our first meeting was held at the Hudson-Alpha Institute for Biotechnology in Huntsville, AL where cutting-edge research was being done to translate the science of genomics into practical applications in biotechnology, life science, and health care. The mission of Hudson-Alpha is to provide an environment for research and business development through genomic technologies. During my visit, I saw companies such as Diatherix, which was focused on making highly accurate bacterial diagnoses in emergency departments and Kailos, which was working on genetic tests predicting responses to drugs. Companies such as these at Hudson-Alpha were positioned to guide medical care with a degree of precision and speed far greater than the current health care delivery system could provide. But those of us sitting around the table that week, were thinking in broader terms: how could our inefficient health care system be transformed over the next fifteen years to one that was far better in cost, quality, and convenience than the status quo?

In that dialogue six years ago, we began to use the concept of moving from “volume to value” and thought about the journey as essentially taking place in three waves. The first wave is the move to patient-centered care. The physician-centered health care delivery system of 2010 would be transformed by 2016 into patient-focused care with convenient 24/7 access and evidence-based standards managed by care teams. Although this part of the journey has not been a cakewalk, the acceleration of the adaption of patient-centered medical homes, convenience care retail clinics, and quality-based pay-for-performance standards throughout the payment system indicates an implicit acceptance of these tenants of patient-centered care on the part of the health care industry.

We believed the second wave would be focused on consumer engagement. We discussed a refocus of patient-care, from a system in which uninformed, limitedly engaged patients interact with a health care system built on bricks and mortar and office hours to one that would be an environment reengineered for informed, shared decision-making by socially connected, highly empowered consumers with access to just-in-time sources of health care services empowered by mobile devices and social platforms. The crest of this second wave would be from 2014-2020 as the technology necessary for consumer engagement was developed and introduced into the health care delivery ecosystem and allowed to mature to meet the ecosystem’s needs. What we are currently seeing with devices such as Kardia, that turn my smart-phone into a very accurate EKG machine, iTriage, that can help direct symptomatic patients to the most appropriate site of care, and Withings biometric devices, are simply the first of many examples to come in this second wave of health care transformation.

But from my point of view, the most interesting part of the transformation of the health care delivery system would occur from 2018-2025. At the time, we referred to this period of transformation as the Science of Prevention. As this wave crests, reactive basic health management will be replaced by a genome-linked life plan, where symptoms treatment can give way to monitoring and prevention, and one-size-fits-all medicine will be replaced by personalized medicine with accurate diagnostics and tailored therapies empowered by the personalized integration of multi-omic (genomic, metabolomic, proteomic), environmental, and social information.

I certainly never imagined back then as the twelve of us sat around that table that I would be back in Huntsville six years later working with the Envision Genomics team who is leading the transformation to wave three. Envision Genomics was established by the world-class group of scientists and clinicians who brought genomics into clinical medicine by sequencing, diagnosing, and curing Nic Volker, a child who was dying from a previously unknown disease. From that beginning, genomic medicine has begun to hit the mainstream, with hundreds of companies now offering sequencing and sequencing related services to primarily help in the diagnosis and treatment of cancer.

Envision Genomics has a different vision: we believe that whole genome sequencing is the most cost-effective solution for diagnosing rare and undiagnosed disorders, so long as it is integrated into evidence-based clinical care models designed to identify patients who could most benefit from genomic medicine services. And many such patients exist, because rare disease is not all that rare. Thirty million people in the U.S are living with a rare disease, which is one out of ten Americans. There are more than 7000 types of rare diseases defined as affecting less than one in 200,000 people. That means that the average physician will not likely encounter a specific rare disorder multiple times over his or her entire career. But these same physicians will likely see patients every day with rare disorders that impact the course of care or response to treatment.

On average, the time it takes to correctly diagnose a rare disorder is more than seven years, with thousands of dollars of unnecessary medical testing done in the process of this diagnostic odyssey, and three misdiagnoses made during the process. This thoroughly unpleasant diagnostic odyssey is one where patients bounce from specialist to specialist, undergoing multiple diagnostic tests and ineffective therapies, even unnecessary exploratory surgeries. Over fifty percent of those affected by rare disease are children, with thirty percent dying before the first year of life. The 2.5% of children with rare disease contributes 30% of the total cost of hospital care for children.

Even more important than the financial burden of the current state of medical care for those with rare and undiagnosed disorders is the adverse impact these diseases have on individuals and their families. The anguish of bouncing around a medical system ill-prepared to address their complex problems, the lack of social services integrated into their care management, and the anxiety associated with having a medical problem for which no one can provide a satisfactory explanation or treatment plan are enormous burdens for these patients and families to bear.

Envision Genomics is prepared to tackle these problems today. We are committed to improving the quality and reducing the cost of healthcare by unlocking the utility and value of the genomic sequence for patient care. We partner with health systems to provide state-of-the-art whole genome sequencing and analytics as well as care models in cost-effective clinics where patients with rare and undiagnosed medical disorders are provided answers, treatment plans, and integrated care coordination. We invite health systems to join us as we move on to the next wave of health care transformation. Together we will improve medical care in ways we hardly dreamed of a few short years ago.

Grace E Terrell MD MMM
Chief Executive Officer

Envision Genomics
601 Genome Way
Huntsville, AL 35806