New Approaches for Practical Challenges in Personalized Medicine

When I received the invitation to speak at the Personalized Medicine World Conference (PWMC), I was excited. When I saw the program and faculty, I was honored. When I received my “assignment,” I was intimidated. To share the podium with many of the luminaries in the field of genomics — even to hear them speak — is tremendously exciting. In contrast, how can they really be interested in hearing me speak on the real-world challenges providers and payers face in bringing genomics advances from bench to bedside more quickly?  I cannot answer this question. Although based solely on the number of conferences to which I am invited on this topic, someone must care. They should. Making the science “work” is only the first step in moving from bench to bedside.

As I was preparing my talk, I reflected on the story Sid Mukherjee, M.D., Ph.D., tells in his fabulous book, The Emperor of All Maladies: A Biography of Cancer. I’m not usually a big non-fiction fan, but if you are involved in cancer care in any way, this is a must read. Perhaps the book resonated because my professional career spanned many of the seminal events described in the book. That, and I share Dr. Mukherjee’s general perspective on the challenges of making meaningful advances in cancer treatment. The bottom line: cancer is tough. Just when we think we’ve made some great progress, it teaches us humility. Still, it is impossible not to be excited and enthusiastic about how far we have come in our understanding of the genetics of cancer. I really think we are experiencing a sea change. We must begin to think about navigating these changing currents in the world of health care reform in order to take best advantage of that progress.

So what are the practical challenges? There are many. And many share the underlying theme that the old paradigms do not work so well. Traditional methods of quality control in test performance, i.e. analytical validity, are a big problem. Proficiency testing and standards do not currently exist. To be honest, most doctors do not think about them when ordering a test. The billing and coding of molecular tests have been undergoing dramatic evolution but is still not suited to multi-analyte assays. Perhaps the biggest challenges lie in the area of clinical utility, which impacts providers, payers and regulatory agencies. Patients are impacted in a huge way. Most people have an idea of where we need to go, but we have a shortage of ideas about how to get there. Finally, all of this occurs in the setting of unsustainable growth in health care spending, and the near uniform agreement that we need to spend our money in a more intelligent, impactful way.

We have a lot of work to do together. It is important to remember we are all on the same side. We have a chance to make a huge difference, but we need to do it right.

What do you think our greatest challenges and opportunities are today? I look forward to the discussion in California.

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

A Look at the Regulation of Diagnostics

Participants at the upcoming Personalized Medicine World Conference 2014 (PMWC) will be engaging in thoughtful debate and discussion on some of the biggest topics in the field of personalized medicine. I anticipate a lively discussion with Andrew Fish, Executive Director of AdvaMedDx on the topic of regulatory issues in molecular diagnostics.

The regulation of diagnostic products is one of the most contentious issues within the personalized medicine community today. Regulatory issues have led to confusion and uncertainty in the industry due to the involvement of multiple agencies with varying standards. Consensus on solutions among kit manufactures and laboratory developed test companies has been hard to come by.

At the Personalized Medicine Coalition (PMC), we have heard from some who would prefer that the status quo is maintained; however, PMC contends that the status quo is not an option. While our members may not agree upon the exact course of action, it is time to acknowledge that action is needed to build a consensus around the development of an efficient, cost-effective process for bringing safe, high quality diagnostic tests to market in which patients, physicians, and payers can have confidence.

To initiate this process, PMC published Personalized Medicine Regulation: Pathways for Oversight of Diagnostics. The paper established baseline knowledge of the status of diagnostic regulation, and set the groundwork for future collaboration among industry, government, and other organizations.

To learn more about this important issue, with a look at the complex and diverse perspectives from key stakeholders, as well as to explore potential solutions, join me on January 28 at the PMWC 2014. Our discussion will look at areas of agreement and disagreement regarding the regulation of molecular diagnostics and likely scenarios for the future.

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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.

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.

The Future of Sequencing in Silicon Valley

Those working in (or reporting on) the fascinating fields of genomics and personalized medicine will have no shortage of conferences to attend in early 2014, including the increasingly important JP Morgan Healthcare Conference in San Francisco; the annual Advances in Genome Biology and Technology (AGBT) meeting on Florida’s Marco Island in February; and Eric Topol’s superb gathering next March, The Future of Genomic Medicine, held on the Scripps campus overlooking the Pacific Ocean.

The meeting I’m most looking forward to, however, is the 6th Annual Personalized Medicine World Conference (PMWC), to be held on January 27th and 28th in Silicon Valley. This event has flourished in recent years, offering a magnificent opportunity to meet and hear from world-renowned experts at the forefront of genomics, molecular diagnostics and personalized medicine.

The overarching theme of PMWC 2014 is: The Arrival of Actionable Personalized Medicine: The Age of Guided Disease Management. The opening session includes discussions featuring personalized medicine luminaries including Brook Byers, Randy Scott, Lee Hood, and NHGRI director Eric Green. I expect vigorous debate of pressing issues including the impact of the Supreme Court’s gene patent decision, the development of targeted therapies in cancer and neurological disorders, as well as regulatory and reimbursement trends.

PMWC 2014 will also showcase the remarkable pace of implementation of next-generation sequencing (NGS) in a clinical context, as the cost of a full genome sequence has plunged to just a few thousand dollars. Diagnostic companies and medical centers are now routinely offering comprehensive genome analysis, as evidenced by the recent report from Christine Eng and colleagues at Baylor College of Medicine in the New England Journal of Medicine on the first 250 patients studied using whole-exome sequencing.

On the eve of PMWC 2014, the conference organizers are hosting a special event to honor Jay Flatley, CEO of Illumina. Since the acquisition of the British biotech company Solexa in 2007, Illumina has been a dominant leader in NGS technology.

But Illumina and the rest of the NGS field are bracing for another seismic event as exciting new technologies, led by nanopore sequencing, are poised to emerge. Just a few weeks ago, I was privileged to attend a live demo of Oxford Nanopore’s new MinION sequencer, as portable as a smartphone, along with a couple of dozen sequencing experts. Judging from the enthused reaction of the assembled guests, I would anticipate a commercial launch sometime in 2014.

So there will be plenty to talk about when, on Day 2 of PMWC 2014, I’ll be moderating a special panel discussion – Killer apps, genome interpretation and the future of NGS – featuring five outstanding authorities in DNA sequencing. The panelists include Stanford University’s Steve Quake, the co-founder of Fluidigm and Helicos; Michael Hunkapiller, chief executive of Pacific Biosciences (and formerly of Applied Biosystems); Cliff Reid, the founding CEO of Complete Genomics, now part of BGI; Stefan Roever, CEO of nanopore sequencing start-up Genia Technologies; and Maneesh Jain, who handles business development at Ion Torrent.

One of the panelists suggested – not entirely tongue-in-cheek — that we subtitle the session: Will anyone succeed in knocking Illumina off its perch? I suggest you book a place at PMWC 2014 and find out!

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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.