Forty years ago this month, I began my dissertation research on the biochemistry of the control of gene expression in the Epstein-Barr virus. We completed the first restriction nuclease map of the viral DNA genomes from distinct epidemiological niches. The leading genetic and genomic tools of the day were deployed to understand the lifecycle of the virus and its role in disease as it evolved its interaction with the human host and environment. It was exciting work, especially considering that only a generation before, my father was a medical student at the same university when he first heard Jim Watson present his seminal findings on the structure of DNA. And now, four decades after my academic genetics work, and on the eve of my daughter’s graduation as a third-generation medical scientist/geneticist, also at the University of Chicago, the $1000 individual human genome sequence and Century of Biology have arrived. With this rapid pace of progress, imagine the advances to come in personalized and precision medicine.
I have participated in four recent immersive conferences on the lookout for the future promise of personalized medicine: the Milken Global Health Conference and the Health Datapalooza (both in Washington, D.C.), and the Health Evolution Summit and the Milken Annual Global Conference (both in southern California). If I were to pick one key insight gleaned from these events, it is that the complexity of biology, once revealed, appears to perpetually outrun our current altitude in understanding, thus leading to new hypotheses to test.
For example, three current “poster children” exhibits are popular for illustrating the potential of personalized medicine. The first is the discovery of genetic mutations in tumor biology, and the use case of targeted molecular therapeutics like Gleevec, which are elevating the prospects for carefully selected patients. The second is advancing genetic editing and gene therapies for single-gene defects leading to diseases like cystic fibrosis and a small number of other rare diseases. The third is prenatal diagnosis of fetal DNA present in maternal plasma, improving fetal medicine capabilities. All of these advances are powerful, but often benefit small numbers of patients and are expensive. I would draw your attention to chronic diseases, which produce the more consequential cost burden-and-scale problem statement at the population level in our overall healthcare system. They are also multifactorial and more complex at the genetic, genomic, and pathophysiologic levels in producing disease phenotypes.
Preferred care protocols discerned at a population level by payer and provider systems have unintended consequences for personalized, patient-centric care. Disease treatment guidelines are just that, and some experienced doctors have never seen a specific patient who exactly fit a guideline or population-based care plan. Aggregated population “big data” has its perils when applied without understanding its limitations (and there’s nothing “personal” about it). Let’s acknowledge we are at the beginning of something big and need to maximize the learning.
I’ll be moderating a panel, “The Promise and Perils of Precision Medicine” at the upcoming Medical World Americas conference to spur discussion about the many challenges we face in bringing real-world precision medicine to fruition. To get the conversation started, here are few topics I intend to discuss with the group:
Collaboration at Scale: The NIH says precision medicine is a shift from a “one-size-fits-all” approach to a new form of customized care. But good medical practice has always been customized to the patient. So what this really means is that the convergence of new developments in science/tech and medicine will enable the health community to provide more precise care based on genetics and a holistic view of a person’s health, lifestyle, and environment. How can this be done effectively and at scale? The first hurdle to be cleared involves bridging the gap between the medical community and technology innovators, eliminating those distinct silos, educating physicians in advanced medical genetics, incorporating the physician’s perspective in development and innovation cycles, and cultivating active patient engagement. That’s no small task.
The Financials: With skeptics noting that current federal funding models are insufficient to accomplish outlined goals, how can we achieve a more sustainable funding structure and market-sensible approach to the development of precision medicine? I believe it will happen through cross-industry and public-private collaborations to optimize market-ready solutions, movement toward valued-based healthcare measurements and reimbursement models, enhancing workflow for care providers, applying realistic time horizon expectations to allow change, and turning our attention to chronic disease care.
Making Sense of the Data: How can we ensure that the massive amounts of clinically relevant information can be securely and productively translated to the singular physician-patient relationship? This question naturally ties to the need to develop decision-support tools that relay actionable, high-quality, and accessible information, at the point of care in time and place, as well as educational efforts for physicians.
The choreography of current scientific depth and expertise is raising standards of living, accelerating longevity, and making overall positive contributions in human capital. We may never be a prophet in our own land, but the affirmative contributions into the planet’s human capital bank have our future looking good.
But regardless of your impressions about what changes precision medicine may bring, there are still quite a few important questions to answer and some fundamental work to be done before we actually see it in action at scale. So, if there are other precision medicine topics you think it would be important to cover on May 20 at my Medical World Americas panel, please ping me on LinkedIn with your thoughts.