Ten Years into Personalized Medicine: What We’ve Learned and What’s Next

Ten years ago, the sequencing of the entire human genome, along with the development of aggregate “omics” technologies began giving rise to a fundamentally new capability for the practice of medicine – the ability to predict and track disease risks on a personalized basis, to understand diseases mechanistically, and to target therapy to treat an individual’s specific disease.

Based on the potential impact of these technologies, I predicted in my 2002 Chairman’s address to the Association of American Medical Colleges, that medicine would be transformed from being disease-focused and reactive to being proactive and personalized. I believed that the “one-size-fits-all” approach to disease care was outmoded and would soon be replaced by one that would prevent and treat disease on a personalized basis.

Since its inception ten years ago, many of those predictions have been realized; personalized medicine has begun to have major impacts on components of medical practice and has engendered health care industries estimated to grow to $450 billion by 2015 with $42 billion related to drugs, devices, and diagnostics. Molecular diagnostics have gained traction in cardiology, rheumatology, transplantation, endocrinology, and, in particular, oncology. Targeted therapies have revolutionized cancer therapy and whole genome sequencing is providing insights into baseline health risks and understanding of some diseases. However, while the use of personalized medicine tools to treat disease is gaining traction, the transformation of medical practice to being proactive, strategic, and personalized; i.e., personalized health care, has been slow to develop.

There is, however, evidence that this movement is gaining momentum and with increases in health care consumerism, a more predictable regulatory environment, and changes in medical reimbursement to reward better outcomes, the adoption of personalized health care is inevitable. Personalized medicine will go beyond the use of technologies to individualize disease care to finally transforming the approach to care itself by enabling individuals and care providers to foster proactive, personalized care. In turn, the clinical adoption of proactive, personalized care will broaden the need for personalized medicine technologies thus spurring the growth of this industry.

Appreciating the value of a ten-year review of personalized medicine, the Personalized Medicine World Conference will host, and I will moderate, a panel discussion titled, “Ten Years into Personalized Medicine: What We’ve Learned & What’s Next” on January 27, 2014 in Mountain View, Calif., with luminaries including Kim Popovits of Genomic Health, Randy Scott from InVitae, Brook Byers of KPCB, and Jay Flatley from Illumina, opining on what they initially anticipated, what they’ve learned, and what’s coming next.

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 Look for additional posts from speakers and participants prior to the 6th Annual Personalized Medicine World Conference on January 27-28, 2014. For more information and the full agenda, visit: 2014sv.pmwcintl.com.

Shaping the Future of Personalized Medicine with TEDMED

I had the opportunity recently to participate in a TEDMED Great Challenges panel discussion entitled, “Shaping the Future of Personalized Medicine.” My fellow panelists and Challenge Teammates included representatives from 23andMe, Foundation Medicine, Illumina, and InformedDNA.

As we discussed the challenges, opportunities and benefits of personalized medicine, three themes emerged.

First, personalized medicine, at its root, is about empowering patients to participate in their own healthcare. Trends in popular culture are meshing with advances in technology to allow consumers access to their health information and the ability to make informed decisions, and our culture is changing in that many now demand to be an involved party in their healthcare.

Amber Trivedi of InformedDNA noted that the power of personalized medicine lies not only in treatment, but prevention. As a genetic counselor, the most common questions asked by her patients are:  “What does my genetic information mean to me, and what will it mean to my children?” The best scenario for personalized medicine in action will come when patients are able to see not only the implications of their genetic dispositions, but also are motivated and empowered to use that information in preventative care.

Second, as Michael Pellini, the CEO of Foundation Medicine said, data has to be “accurate and actionable” to have value. However, we cannot discount the potential future benefits of the data discoveries that are underway today. We must find a balance between supporting ongoing data discovery and analysis, while also pushing for data that are actionable now.

Third, traditional healthcare models need to continue to shift to aid in the advancement of personalized medicine. Research cannot continue to solely focus on large population studies; payers need to develop innovative approaches to improve reimbursement policies; and healthcare professionals need training and resources to enable the adoption of personalized medicine in the clinical world.

Finally, when asked what we found to be the most invigorating about personalized medicine, my fellow panelists were quick to share the advances they see on the horizon, including an explosion in targeted therapies aided by new technologies; the shift of cancer to a chronic disease; revolutionizing the treatment of infectious disease through the application of lessons learned from personalized medicine advances in cancer; and deeper data mining enabled by technology currently used in other fields.

Regardless of our individual areas of focus within the world of personalized medicine, this Challenge Team is energized and optimistic about the future of medicine.

Follow the Great Challenges conversation, and submit your questions or comments on Twitter using #GreatChallenges, or at TEDMED.

Still Skeptical about Personalized Medicine?

Over a century ago Sir William Osler, M.D., stated: “Variability is the law of life and as no two faces are the same, so no two bodies are alike and no two individuals react alike and behave alike under the abnormal conditions which we know as disease.” Despite our deep and long-standing understanding of the heterogeneity of disease and the variations in response to treatment, we are slow to adopt the notion that despite its complexity, the heterogeneity of human illness is decipherable. Skepticisms that we can actually deliver on the promise of personalized medicine is understandable, since converting such variables as severity of illness, uncertain vulnerability to side effects, co-morbid conditions and our cultural environment, to name a few, to precise algorithms for care seem daunting.

So, why has it taken so long for medical science to unravel this heterogeneity and why should we be optimistic that personalized medicine will happen? In part, our current views stems from where we have previously focused our attention. “Bergkrankheit “(mountain sickness) was known in the 14th century as an affliction of metal ore miners in Europe. By the 20th century we knew this as lung cancer and attributed it to a variety of environmental exposures. In this century, we have further refined our description of this disease to specific aberrations in molecular pathways, which if not entirely causative, account for much of the disease biology.

By contrast, medicinal chemistry as a science started much later than clinical medicine and is now closing the gap between knowing precisely what causes an illness to precisely what to do about it to improve the outcome for individual patients. No doubt we have a long way to go, but the current pace of personalized medicines suggests that it is becoming everyday reality for many lung cancer patients.

Join Dr. Stephen Eck on November 28, 2012, when he moderates a panel discussion at the 8th Annual Personalized Medicine Conference hosted by Partners HealthCare Center for Personalized Genetic Medicine, Harvard Medical School, and Harvard Business School. 

From The Catalyst (blog) – A Conversation with Marcia Kean, Chairman, Feinstein Kean Healthcare

This entry is reposted with permission from PhRMA’s blog, The Catalyst.

ASCO’s Annual Meeting this week highlighted some of the exciting advances that are emerging in the fight against cancer. PhRMA has joined with many other organizations in supporting a conference next week, “Turning the Tide Against Cancer Through Sustained Medical Innovation,” which is focused on the critical issue of how we sustain this progress in an era of increasing cost-cutting pressure. Conference participants will examine how we measure the value of new treatments and how we can promote high quality, patient-centered care.

The conference is being convened by the American Association of Cancer Research, the Personalized Medicine Coalition, and Feinstein Kean Healthcare. We sat down with each of the conference co-hosts about the event and progress in cancer care.

Conversation with Marcia Kean, Chairman, Feinstein Kean Healthcare

Q:  In the course of 30+ interviews of national thought leaders that you conducted to develop a Discussion Paper for the Turn the Tide conference, what themes emerged most strongly? 

Marcia Kean:  I was very surprised at how much consensus there was from such a disparate group of stakeholders from academe, patient advocacy, industry, providers and payers.  There was strong agreement, for example, that as daunting as cancer is, innovation is going to be the best way to overcome both the clinical and economic burden of cancer in coming years, and that above all, innovation has to be protected.

Five major themes recurred.  The first was around the need for an ongoing, community-wide commitment to overcome the issues we face as a society in oncology.  I don’t mean that everyone had the same perspective about those issues – remember, this was a very diverse set of individuals – but rather, there was agreement that we have the opportunity at this moment to do things differently to accelerate research and improve care, and that in order to reward innovation, it’s important for stakeholders to identify overlapping interests rather than remaining rigid in their safe and separate silos.  Creating a joint, defined vision of what constitutes value will help to outline a pathway for development.

Second, while everyone recognizes that we’ve made progress toward patient-centered cancer care, much more needs to be done. We need a better system for measuring value that puts patients’ needs and preferences first, and keeps up with the rapidly evolving scientific and clinical environment. As personalized medicine becomes more central, of course, this kind of dynamic measurement will only become more difficult.

Third, there’s huge excitement about the potentially positive impact of digital technologies to accomplish the dramatic productivity gains in cancer research and care that they’ve done for other fields.  Developing effective tools for shared decision-making and clinical decision support is seen as a major opportunity in that regard.

Fourth, there’s a desire to move to “next-generation” tools for assessing value through Health Technology Assessment, as well as a fervent desire to develop next-generation Comparative Effectiveness Research that aligns with personalized medicine and gives a fuller picture of real-world value. We heard that current approaches aren’t centered enough on patient value, and don’t do an adequate of job keeping pace with how the use and value of tests and treatments evolves over time – they are just too static in a highly dynamic world.

Finally, there’s a strong drumbeat about the shift to models of “continuous learning” that give a more dynamic, patient-centered picture of value, so that every clinical encounter informs our overall knowledge base and research advances are moved rapidly into clinical use.  That virtuous circle is seen as the light on the horizon for all of us.

Q:  Your firm has been very active in efforts to implement health information technology and develop a learning health care system. How will these concepts accelerate progress in cancer care?

Marcia Kean:  In some ways, the field of biomedicine has been the last to benefit from the digital revolution.  For many cultural – and technical – reasons, we just haven’t been able to move data rapidly from lab bench to doctor’s office to hospital to patient, and so on.  But there is a growing cadre of researchers and clinicians and patients who are demanding the kind of ‘data liquidity’ in science and health care that they see in every other sector of their lives, and they are gaining traction.  Once we have seamless data exchange, based on the use of standards in Health Information Technology and bioinformatics tools, we’ll have a solid foundation for a learning health care system. In that picture, everyone wins:  innovators can accelerate and improve research; patients and doctors can get the information they need to make wise decisions; and the efficiency of the process can drive down costs.

However, we need to remember that even a digitally-enabled system doesn’t happen in a vacuum — it has to unfold in a community where every sector is interconnected and working towards a common, patient-centered vision, because all these challenges and solutions are inter-related in a very complex and dynamic ecosystem.

Levin, O’Kelly Provide Perspective on Decades of Personalized Medicine Progress, Urge Action and Support

On Tuesday, May 8, 2012, the Personalized Medicine Coalition (PMC) welcomed our chairman, Stafford O’Kelly, President of Abbott Molecular and keynote speaker, Mark Levin, Partner and Co-Founder of Third Rock Ventures to its Eighth Annual State of Personalized Medicine Luncheon. The event brought together PMC’s members, partners and other stakeholders involved in realizing the future of personalized medicine for researchers, industry leaders, patients, caregivers, advocates and policymakers.

Stafford O’Kelly reminded us, in his introductory remarks, of the progress and success we’ve made toward achieving personalized medicine in practice within the past year alone. Just last week we saw that Xalkori is showing progress in fighting certain childhood cancers. O’Kelly pointed out the assurances by the FDA that co-approval of drugs and diagnostics will occur more frequently. He also challenged attendees to think about what they can do “to accelerate the shift toward personalized medicine in a way that will improve treatment outcomes for the patient while, at the same time, lower overall costs for our health care system.”

Mr. Levin sought to use his significant experience and background in venture capital, product development and marketing to answer O’Kelly’s provoking question during his keynote address. He urged attendees to support personalized medicine. He explained that “personalized medicine is one of the most important things in medicine today” and lauded its potential to reduce safety challenges, increase efficacy, and improve productivity in the pharmaceutical industry.

I agree that we are at a point where the scientific and clinical progress made in personalized medicine is undeniable. But to echo Stafford O’Kelly’s call to action:  “We need to get the right stakeholders involved to help develop pathways for accelerating growth in the field….We need commitment from payers, providers and patients.”  In order to continue to make progress against disease and improve outcomes for patients, it is necessary as O’Kelly and Levin said, for the entire ecosystem of players to focus efforts in the direction that scientific discovery points us – toward targeted, patient-centric approaches to research and care.

We hope to continue the discussion around these themes and the future of innovation, specifically in cancer research and care at “Turning the Tide Against Cancer Through Medical Innovation,” a national conference that the Personalized Medicine Coalition, American Association for Cancer Research and Feinstein Kean Healthcare are co-hosting on June 12, 2012.  I encourage you to join us in Washington, D.C. as we look to identify and build support for an environment that sustains innovation and drives our evolution toward personalized cancer care.