Archive for the ‘Personalized Medicine Conference’ Category

Collaboration Key to Improved Reimbursement Policies for Personalized Medicine

April 1, 2014

Significant reimbursement challenges to personalized medicine began in 2012 when the Centers for Medicare and Medicaid Services (CMS) changed payments for diagnostics from a stack of different types of codes describing different parts of lab testing to a unique code for a type of test.

The Personalized Medicine Coalition (PMC) has engaged with CMS on reimbursement issues for personalized therapies and companion diagnostics in a variety of ways, most recently when Patrick Conway, M.D., Deputy Administrator for Innovation and Quality and Chief Medical Officer, CMS, delivered the keynote address at the Tenth Annual State of Personalized Medicine Luncheon.

Dr. Conway outlined his perspective on the state of personalized medicine and where it is headed, noting that we are in an era in which the power of genetics is driving innovation, informing treatments and improving patient outcomes.

As Dr. Conway noted, diagnostics are a challenge as a new market, and CMS is working with FDA to streamline the process further. We want and need diagnostics that enable physicians’ to tailor therapies for individual patients and influence decision making, all resulting in better health outcomes and improved patient care.

Dr. Conway emphasized innovation, noting that we need a system that values innovation and pays for it appropriately. We should cover and pay for technology that may have greater costs in the short-term, but which will result in long-term savings and improved outcomes.

Yet, innovators are facing significant challenges stemming from CMS policies, through the unintended consequences related to coding, in particular. PMC is focused on working with CMS to ease the pressure on innovators, and identifying opportunities to make sure this does not happen again.

A key theme of Dr. Conway’s talk was that of collaboration. PMC will continue to facilitate engagement with CMS, taking up Dr. Conway on his open door policy to ensure that future policies encourage innovation and support continued developments in personalized medicine.

Dr. Conway’s presentation is available at the PMC website.

Finding My Future, or, How to Coexist with Cancer

March 24, 2014

In October 2007, my identity was stolen.

In September 2007, I was a 39 year-old wife and mother of two young girls. Then, suddenly, I was a 39 year-old wife, mother of two young girls, and Stage IV lung cancer patient.

At the time of my diagnosis, I learned a majority of late-stage lung cancer patients die within one year. Just one year. One birthday. One summer. Would I make it to another Christmas? I didn’t know. Already a “glass half empty” kind of person, I wondered if this was my death sentence as the sense of a future ahead of me drifted away.

For the first six months, I tried traditional treatments, and I felt terrible. I was finding out what it felt like to experience the decline of death.

But here I am. More than six years later, alive and kicking. And personalized medicine is the reason.

My experience with molecular testing and targeted therapies
My first line of treatment was the classic carboplatin-taxol combo, combined with bevacizumab—the first of the newer, targeted therapies. Even though I was epidermal growth factor receptor (EGFR) negative and might not respond, I fit the common demographic for success closely enough that my doctor and I decided to try erlotinib with bevacizumab. That run lasted over two and a half years—precious time. I spent that time with versions of the most common side effects but otherwise felt pretty normal and lived life actively, something I never expected to do again.

During that time, I learned about the clinical trial for crizotinib on the news, and after three different people contacted me to pass along the story, I considered it an omen of sorts and asked to have my tumor specimen tested to see if I was a fit for this new personalized treatment.

When I found out I was ALK positive—and therefore likely to respond to the treatment—I felt relief. I knew how promising crizotinib already was and now I had my next plan in place. I have been on this targeted therapy for more than two years and I have been living a virtually symptom-free, normal existence with my daughters, with the hope for more.

Targeted therapies have been invaluable to my treatment. I know that I am very fortunate and remain in the minority to have my disease controlled so well. Frankly, that fuels my feeling of responsibility to do something productive to change things. So many—too many—die so quickly.

From my perspective, there are two important considerations for targeted therapies.

  1. We should use molecular testing as a way to inform treatment—not exclude access to drugs: I am enthusiastic about the value of molecular testing, and I also believe that its value lies not in its exclusionary potential, but in informing the priorities of a treatment plan.

    Having benefited over a period of almost three years from erlotinib when I tested negative for the genetic marker, I’d hate to see that same possibility be denied outright to others. I know that for some cancers and other illnesses, there is a concern about “overtreatment,” but in the lung cancer world, we’ll take whatever we get because our odds are so poor.

  2. We should better keep healthcare providers educated and up-to-date on the latest in molecular testing: I have heard horror stories about oncologists who don’t know much about the testing, never mention it to their patients, and trudge down the traditional paths without pause.

    We need better approaches to ensure doctors have access to the latest research and tools for diagnosis and treatment. I worry about the patient that doesn’t have the tools to advocate for their own healthcare.

Millions of people are depending on scientists, business people, and policymakers to keep working hard and collaborating to bring access to promising therapies to those in need and accelerate medical breakthroughs.

Now, I live with Stage IV lung cancer. It is a part of my body and part of my identity. My outlook on life has changed dramatically since my diagnosis, but my ability to take care of my daughters and live my life hasn’t at all. And that is incredible.

Molecular testing and personalized medicine gave me my life back, and my sense of a future back. While I’m realistic enough to know that my daughters are fairly certain to lose their mother before they are grown, I also know I have tools to fight with, and a responsibility to share my story.

We need earlier detection.
We need the tools to cure.
We need to increase survival for those, like me, who live with cancer.

2013: A Year of Innovation, Inspiration

December 20, 2013

As we look forward to 2014, we engage in the time-honored tradition of reflecting on the year of activities and progress as we bid 2013 farewell.

For personalized medicine, it was another year with big advances, and big questions. The following captures highlights from The Age of Personalized Medicine Blog for 2013.

We started the year with a call to action from Amy Miller, PMC vice president, public policy, about the power of personalized medicine, the need for “accurate and actionable” data, and for a shift in traditional healthcare models. As Amy noted:

…The power of personalized medicine lies not only in treatment, but prevention. 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.

In May, personalized medicine took the international spotlight as Angelina Jolie shared with the world her genetic prognosis and personal decision to pursue a course of preventative care. The high-profile case inspired much discussion of the value of personalized medicine, as well as the need for access to diagnostic testing for all:

Ms. Jolie’s contribution demonstrates that without patients who are educated, empowered to get tested and to act, the progress and innovation could be for naught. We need to make sure that patients are knowledgeable enough to pursue personalized options for their own health but also so that they are motivated to support policies that foster continued progress in this area.

Kristin Ciriello Pothier, Diagnostics and Life Science Practice lead at Health Advances, shared key take-aways from the PMC/BIO Solutions Summit panel she moderated on “Evidentiary Standards and Data Requirements for Payer Coverage.”

Ms. Ciriello Pothier examined the challenges facing the personalized medicine diagnostics industry and summarized her panel’s conclusions:

First, panelists agreed that there must be more education for all stakeholders so that each stakeholder can actually evaluate novel products appropriately, a key finding echoed throughout the day. Second, the emphasis on outcomes must shift from only clinical outcomes to clinical outcomes and quality of life for patients. Finally, all panelists agreed the ideal situation is open, trusting lines of communication and split of the responsibility according to expertise.

William Chin, M.D., identified research, collaboration, and innovation as critical components to advancing personalized medicine, while Stephen Eck, M.D., Ph.D., cited the need for funding for basic research, diagnostics testing research, increased healthcare provider education, and reimbursement for diagnostic testing as key.

At the mid-point of 2013, pressures to reduce federal spending elevated the need for policy that will support biomedical research and innovation. PMC responded to these concerns through comments submitted to the Centers for Medicare and Medicaid Services (CMS) regarding the charge on regional Medicare Administrative Contractors (MACs) to set new prices for molecular diagnostic test reimbursement through a process called “gapfilling”:

The Personalized Medicine Coalition (PMC) submitted comments to CMS on the Gapfill Payment Amounts and CLFS, iterating the concerns of PMC members that insufficient payment amounts threaten the sustainability of the laboratory industry and continued investment in the developing field of personalized medicine. As a consequence, this policy has the potential to stifle innovation and progress in healthcare and possibly eliminate the potential for lowering overall costs through the elimination of unnecessary and or ineffective treatments.

In 2013, PMC also released a set of policy principles key to advancing personalized medicine in a deficit-reduction environment. Debuted at a Capitol Hill Briefing, these principles lay the groundwork for consensus-building around key issues to ensure that efforts to contain rising healthcare costs do not undermine continued progress in personalized medicine and protect innovation, the physician-patient relationship, patient values, and choice.

The reality of personalized continues to be realized with patient triumph stories bringing new advances in science, technology, and research to life:

The promise of personalized medicine is very real. Personalized medicine is not an abstract concept for the future of medicine. It is here, it is now, and the true promise has been realized in the lives of Kellie and Stephanie, and the precious days, weeks, months, and years they have taken back from their disease.

I encourage you to read more about Kellie and Stephanie, and to draw inspiration from their strength.

At the 9th Annual Personalized Medicine Conference in November, it was an honor to present Kathy Giusti, founder and CEO of the Multiple Myeloma Research Foundation (MMRF) with the 2013 Leadership Award. Ms. Giusti’s story of ingenuity in the face of adversity has led to a redefinition of the role of patient advocacy organizations in research:

Clinically, MMRF has funded research and paved the way for FDA approval for six multiple myeloma treatments in 10 years, and doubled the lifespan for many patients. Today in her remarks, Kathy shared that her daughter, who was just one year old when Kathy received her myeloma diagnosis, is now a 19-year-old college student with a younger brother. Incredible results.

2013 was a year of progress and inspiration. We look forward to the new year ahead and personalized medicine advances on the horizon, bringing new treatments and improved outcomes to patients.

Personalized Medicine Coalition Honors MMRF’s Kathy Giusti with 2013 Leadership Award

November 6, 2013
Kathy Giusti with Edward Abrahams and William S Dalton

Edward Abrahams, Ph.D., President, PMC, (left) and William S Dalton, Ph.D., M.D., Director, Personalized Medicine Institute, Moffitt Cancer Center and CEO, M2Gen, recognize 2013 Leadership in Personalized Medicine Award recipient Kathy Giusti, Founder & CEO of the MMRF (Photo: Justin Knight)

The personalized medicine community has convened in Boston for the Ninth Annual Personalized Medicine Conference. Last night, the Personalized Medicine Coalition welcomed more than 250 attendees to the Boston Museum of Science and the new Hall of Human Life exhibit to kick off the two-day event. As colleagues gathered, the prevailing conversation focused on how far personalized medicine has come. It has been nine years since we first gathered researchers, academics, policymakers, clinicians, patient advocates and other stakeholders to identify the key questions facing – at the time – an emerging approach to healthcare.

Then, and over the years since we first gathered, we have often spoken of the “promise of personalized medicine.” Today, as the Personalized Medicine Conference opened, we focused on how that promise has come to fruition. The personal stories of panelists who carry a dual title of “healthcare expert and patient”, or “genomics expert and caregiver”, riveted the audience and provided a poignant reminder of the need to continue to encourage and enable innovation and access to personalized approaches to care.

One leader in the field, who embodies the promise of personalized medicine is Kathy Giusti, Multiple Myeloma Research Foundation (MMRF) Founder and CEO. This year, the Personalized Medicine Coalition honored Kathy with the 2013 Leadership in Personalized Medicine Award. The award recognizes an individual whose work and contributions are advancing personalized medicine research, product development, reimbursement and policies. Kathy Giusti has done all that and more through her passionate and driven work to empower patients and advance research in multiple myeloma.

The unique and creative business model Kathy employs at MMRF has yielded both clinical and personal results. Clinically, MMRF has funded research and paved the way for FDA approval for six multiple myeloma treatments in 10 years, and doubled the lifespan for many patients. Today in her remarks, Kathy shared that her daughter, who was just one year old when Kathy received her myeloma diagnosis, is now a 19-year-old college student with a younger brother. Incredible results.

The Personalized Medicine Conference continues to be an important gathering for information sharing, consensus development, and, just as critically, these inspirational moments that remind us all that the Age of Personalized Medicine is here as we continue to gain more evidence each day that the science is moving us toward more personalized approaches to research and care.

As Kathy shared at the podium, “I accept this award on behalf of all of you, because you are here as innovators in a field where patients desperately need you. You are here because you are innovators in the field of personalized medicine. You are going to change the lives of thousands and thousands.”

Personalized Medicine Community Gathers in Boston for the Ninth Year to Share Insights and Innovation from the Field

October 29, 2013

Personalized Medicine was an emerging field of medicine in 2005 when we first held what was to become an annual event, our personalized medicine conference. The importance of personalized medicine was given a boost by the then U.S. Secretary of Health and Human Services, Michael Leavitt, who said in January 2005, “I believe we are moving into a remarkable and powerful new era in medicine and particularly in prescription drugs.  I’d refer to it as an era of personalized medicine.” Since then many different names have been given to this approach to medicine. They include “Precision Medicine”, “Genomic Medicine”, “Genetic Medicine”, “Individualized Medicine”, and “P4 Medicine” to name a few.

This year, we gear up for our 9th Annual Personalized Medicine Conference on November 6th and 7th, in Boston, arguments can be made about what name adequately describes the enterprise in which genetic and genomic information informs us about a person’s risk for human disease; about a clear diagnosis on which treatments depend; about prognosis for a disease such as cancer; about genetic variants in an individual patient that may determine that person’s ability to metabolize a particular chemical entity; about genetic and genomic changes that might inform physicians about the appropriate therapeutic approach; and about many other aspects of health and medicine where genetics may play a role. Some people in the scientific community contend that the use of such a diversity of names for the same enterprise is natural and reflects the evolution of the field. What we cannot ignore is the direction that the science is leading us – toward precision diagnosis and treatment of disease at the molecular level.

As I reflect on the past nine years, some aspects of personalized medicine have changed rapidly and others are relatively unchanged. One of the biggest and most exciting changes involves the growing commitment of drug developers to the development of targeted therapies. At the beginning of the 21st century, there were only a few drugs that could be considered “targeted” therapies. Now, in cancer, for example, the development of such targeted therapies is becoming the norm because many of these drugs have few adverse effects and the response rates of patients, whose tumors have the molecular target for the drugs, are very high compared to other non-targeted therapies. We can find similar “personalized” approaches to treatment in the areas of infectious disease, cardiovascular disease and other areas.

Today, much of personalized medicine is fueled by new technologies related to DNA and RNA sequencing. It has been estimated that the cost of sequencing has dropped by a factor of 100 from the beginning of this century. The amount of DNA or RNA required to sequence whole genomes has also been reduced by orders of magnitude and there are now technologies in development that promise to sequence single molecules of DNA in a matter of few hours. As the technologies improve and associated costs decline, the benefits of genome sequencing become more apparent. It is easy to imagine a not-too-distant future when people around the world have their genome sequenced as part of the standard of care. Despite present concerns about the cost to analyze all of these genomic data, I am certain that newer algorithms will enable us to automate much of the analytical and interpretive processes to propel us toward a new level of understanding regarding the prevention and treatment of disease.

As the science evolves and entrepreneurs continue to innovate, we are faced with new challenges.

Open and informed discussions about issues related to personalized medicine are critical for better understanding of the successes, failures and promises of this relatively young medical enterprise. Our Conference in Boston provides one such forum and we hope that you will be able to join us.

The future of medicine is before us.

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Harvard Medical School, Harvard Business School and the Partners HealthCare System in Boston will convene the 9th Annual Personalized Medicine Conference on the campus of Harvard Medical School this November 6 and 7. As has been the practice since the Conference’s inception, this year’s meeting is in association with the Personalized Medicine Coalition (PMC). For the first time, we also welcome the participation of the American Association for Cancer Research (AACR), a member driven organization that has been dedicated for more than a hundred years to promoting cancer research and cancer care, as a co-convener.

For more information and to register for the 9th Annual Personalized Medicine Conference, please visit www.personalizedmedicineconference.org.

Randy Scott: Bringing Metcalfe’s Law to Genomic Medicine

December 11, 2012

Each year, the Personalized Medicine Coalition recognizes an individual whose contributions in science, business, and/or policy have helped advance the frontiers of personalized medicine. This year, the Leadership in Personalized Medicine Award was presented to Randy Scott, Ph.D., during the Harvard Personalized Medicine Conference on November 28, 2012 in Boston, Massachusetts. 

Receiving the 2012 Leadership in Personalized Medicine Award from the Personalized Medicine Coalition (PMC), Randy Scott reflected on his success as the founder and former CEO of Genomic Health, but also looked ahead to new opportunities with his latest venture, InVitae Corporation.

Scott received the award this week at the 8th Annual Personalized Medicine Conference at Harvard Medical School. “Randy has transformed our understanding of how medicine can be practiced by creating one of the most successful personalized medicine companies to date,” stated Brook Byers, a partner with Kleiner Perkins Caufield & Byers and a previous honoree. Past winners of the PMC Award include Janet Woodcock (FDA), Elizabeth Nabel (NIH), Ralph Synderman (Chancellor Emeritus, Duke University), and Leroy Hood (Institute for Systems Biology).

After a successful stint at Incyte, Scott founded Genomic Health in 2000 and led the firm for nine years, overseeing the development of the Oncotype Dx gene expression test for breast cancer. He modestly shared the credit with numerous colleagues. “My contribution was I probably did a good job of hiring a lot of people at Genomic Health who are way smarter than I was,” he said, naming in particular co-founder Joffre Baker, CMO Steven Shak, and CEO Kim Popovits.

As a graduate student in the early 1980s, Scott said he had been excited about biotech but worried he was too late. “All the exciting genes had been cloned! TPA, Factor VIII, human growth hormone, insulin,” he recalled thinking. Today, Scott said, “we’re on the precipice of incredible accelerating change in this field… Everything we’ve experienced to date pales in comparison to what we’re going to experience in the next 5-10 years.”

But he also shed some personal insight into the launch of his latest venture, InVitae Corporation. He said he is “unabashedly excited” about the future of personalized medicine. “Personalized medicine is really when disease happens to you—your friends or your family. Suddenly it’s no longer just an industry we’re working in but something so personal, so intense, and so emotional. We should never forget that.”

The Network Effect

Scott said reading Intel founder Andy Grove’s book Only the Paranoid Survive in the mid-90s, during his tenure at Incyte racing to identify human genes, was highly influential. In the book, Grove discussed the impact of Moore’s Law on the revolution in computing; Scott saw parallels with the biotech industry. “The way we were sequencing DNA [at the time] was so embarrassingly simple,” he said. Just as computing costs were plummeting, Scott reasoned it was inevitable that sequencing costs would also fall.

Perhaps more importantly was the concept of “the network effect.” Just as Metcalfe’s Law—the community value of a network is proportional to the square of the number of its users—drove change in the computing world, so too will it drive the future of biotechnology.

“Having a really cheap genome sequenced is really not very useful. We still see articles in The New York Times, ten years after the genome project, [saying] ‘so what?’ At some level, they’re horribly wrong, and at some level, they’re horribly right. We’ve not yet seen the network effect or the full implication of Moore’s Law.”

Scott said the community is still “1-2 years away from the inflection point” where the cost of sequencing reaches the point that will trigger “massive consumer demand.” The value of genome sequencing will be most strongly felt in the network effect. “How we connect that genomic information across millions and millions of individuals… Somebody can be sitting at a computer, link into the network, and find how a mutation and how it correlates with their patient and a patient somewhere else in the world.”

Scott said he was also a believer in what he called the “Law of Finite Genomes.” The human genome is like a complex finite puzzle with about 150,000 pieces (20,000 genes and 100,000 non-coding RNAs). “All common diseases are really rare diseases,” Scott said, with cancer a prime example. “Medicine goes from an infinite game to a finite game,” he said. By comparing lots of genomic information, we can begin to rule things out.

Patients, Patients, Patients 

Scott was inspired to launch Genomic Health when a close friend was diagnosed with colon cancer in 1999. For the first time, Scott was personally struck by the chasm between science/technology and medicine. “We’ve got to bridge the gap—bring the science into clinical practice,” he said.

The focus at Genomic Health, Scott said, was “patients, patients, patients.”

“I’m not sure we had a model other than this maniacal focus on patients that wouldn’t be denied,” he said. If we could really do the science right, the science would sell.” Genomic Health spent an enormous effort on clinical studies.

“Clinical data wins over physicians, and it is physicians that win over the payors,” Scott said. “The onus is on us as an industry to build the value proposition [for payors]… so physicians have to adopt those products. If physicians adopt, they will drive payers to cover.”

Scott left Genomic Health this year to launch InVitae, spurred by the impact of rare genetic diseases affecting members of his family.

In 2000, Scott’s nephew had a daughter with galactosemia. Fortunately, the disorder was diagnosed within 48 hours of birth, and her diet could be changed, otherwise there could have been “a dramatically different outcome.” In 2005, an adopted nephew collapsed on a tennis court and died from hypertrophic cardiomyopathy. Advanced screening could have saved his life, but nobody knew any family history of cardiac disease, he said.

Finally, one of his wife’s relatives had a young son who developed serious seizures at age 2 years. The infant is developmentally impaired and severely autistic. Earlier this year, Scott revealed that exome sequencing of the child and his parents revealed a single de novo point mutation as the putative cause of the disorder. This is unlikely to provide any tangible medical benefit, but “it gives a clue into potential causes of these disorders,” he said.

Ridiculous Goal 

Scott said his goal in launching InVitae was to bring the power of genetics into the real world of clinical practice. “We have a ridiculous goal,” he said. “We want to aggregate all of the world’s genetic tests into a single assay—for less than the cost of a single assay today!”

In other words, InVitae plans to collapse all Mendelian inherited traits into a single assay that can be performed “reproducibly, at high quality and at reasonable cost for the medical system. So instead of going into these diagnostic odysseys… every parent thinking about conceiving a child can know exactly what their carrier status is and what disease risks lie in their family.”

The initial assay will essentially be an elaborate gene panel, but Scott’s plan is eventually that this will lead into whole-genome sequencing (WGS). Scott believes that “within 10-20 years, everyone in any developed health care system will be able to be provided with a low-cost [WGS] analysis at birth… We’ll be talking about managing your genome over the course of your lifetime.”

As for the question of how to deal with the plethora of data, “that’s Metcalfe’s Law, the network effect,” said Scott. “Much of the data won’t be of value to the patient or physician ordering the test. But collectively, they will be massively valuable to the research community.”

We’re big fans of “Free the Data!” said Scott. The universe of clinical genetic data “won’t be a database held by one company or one academic institution, but you’ll see a massive movement over the course of the next decade to make data broadly available within the research community.” This will create a huge disruption in medicine, Scott predicted, a shift from phenotypically driven medicine to more of a genotype foundation as sequencing costs fall and the network builds.

“Everything will drive off the genotype and it will move very fast,” he said. “This is a given. To me, this is the investment thesis. This will be the place to be, the chance to help people suffering from rare diseases. At the end of the day, every disease is rare.”

InVitae is building a strong management team. The company recently merged with Locus Development, a start-up co-founded by Sean George and Michele Cargill, founding scientists at Navigenics. Steve Lincoln and Jill Hagenkord, both formerly with Complete Genomics, also joined the cause this year, as did Reece Hart, former manager of research computing and informatics at Genentech.

- This article was first published at the Bio·IT World website on November 30, 2012.

Sustaining Progress in Personalized Medicine

December 4, 2012

Last week, I had the opportunity to speak at the Harvard Personalized Medicine Conference in Boston, MA. No other conference on personalized medicine brings together the array of scientists, stakeholders, and experts that this event does. This year the conference drove home to me that the potential to improve patient care via personalized medicine is greater than ever – yet the scientific and clinical challenges remain daunting. It is more important than ever to sustain biomedical innovation, and to ensure that health policy is informed by the enormous opportunity, and complexity, of making continued progress in this field.

The event also underscored that biopharmaceutical research companies are deeply committed to advancing the science of personalized medicine and building it into their research and development strategies. It affirms findings of a report released by the Tufts Center for the Study of Drug Development in 2010 which found that 94% of biopharmaceutical companies surveyed are investing in personalized medicine and 100% are using biomarkers in the discovery stage to learn about compounds. This research has required large up-front investments in new research tools and training. But, as we have seen in the last year-and-a-half with FDA approval of new targeted therapies for lung cancer, melanoma, and cystic fibrosis, it is starting to bear fruit for patients.

I’m hopeful we’ll see more approvals in the months ahead. In the report from Tufts, companies reported that 12-50% of compounds being researched are personalized medicines and over the last five years, they have seen a roughly 75% increase in their investment in personalized medicines. The importance of personalized medicine was illustrated in the reauthorization of the Prescription Drug User Fee Act, which provides FDA with increased resources and staffing to advance the regulatory science in areas such as pharmacogenomics and biomarkers.

This progress, however, doesn’t happen in isolation. The Harvard Conference participants represented, and illustrated, the wide range of organizations and individuals from different sectors that make up the research ecosystem that drives progress in personalized medicine. As the science of personalized medicine advances, research partnerships and collaborations will be more important than ever. To sustain progress in personalized medicine, it is vitally important to ensure that policy and regulation do not erect barriers to these types of partnerships.

Biomedical innovations like personalized medicine will help address major unmet medical needs, and offer a solution to rising healthcare costs.  As we face continued pressure to contain healthcare costs, it is crucial to ensure that healthcare policy sustains the innovation ecosystem and incentivizes continued progress in personalized medicine.

Harvard Personalized Medicine Conference Showcases Progress in the Field

December 3, 2012

Great themes emerged at the Harvard Personalized Medicine Conference last week. This is the third year that I’ve attended and there’s a palpable sense of progress. Examples abound on how precise molecular profiling tools are now being used in clinical practice and the potential going forward is huge.

But this transformation is causing a number of new considerations to come into focus. Working in industry, we have to think about what do these opportunities mean for business? Where can we best add value; what parts of medicine are currently underserved? How can we bring industrial and operational strengths to the emerging new paradigm? And how is the regulatory environment likely to change…for therapies and for diagnostics?

The opportunities and the challenges are breathtaking. Contributors spoke of the opportunity for sequencing data integration into the Electronic Medical Record (EMR) and the subsequent effect on medical decision making. And, the emerging Personalized Medicine paradigm should provide opportunity for the sector to make the case of the value of innovation, both clinical and economic. But what will people make of a new generation of EMRs containing contextual individual information across a continuum of patient care…from predisposition, through screening, diagnosis to therapy selection and monitoring.

The audience-sourced data demonstrated how peoples’ acceptance of precision medicine has increased over the years in which the conference has been held. And although oncology still dominates, pharma representatives described case studies in cystic fibrosis and cardiology. Those same pharma contributors acknowledged the absolute necessity for powerful diagnostics to complement the delivery of personalized medicine.

On the first day of the conference, I moderated a session entitled: Business Models for Genetic Information.” Thought leaders from Siemens, PerkinElmer and Oracle described their companies’ visions for the molecular and digital age.

We had interesting audience feedback. Over 50% of the respondents felt that DNA sequence will become a routine part of an individual’s medical record within the next 10 years. Also interesting was the fact that only about 10% felt that availability of science or technology was the biggest obstacle to the adoption of personalized medicine in the clinic.

We discussed how personalized medicine can become mainstream. This isn’t about enabling personalized medicine for the few, but using technology and scale to deliver to the many. Doing this right not only will benefit patients, but input at the conference from regulators, drug manufacturers, and payors, told us there are a lot of parties interested in the success of this new paradigm. 

Making sense of all this data is a real challenge – how to format; how to integrate? Some contributors spoke of a data-driven industry transformation as has happened in other industries – financial services, retail, and communications. The result has been efficiency and transparency and the appearance of new interested parties – such as those capable of integrating workflow and data. 

The need for workflow integration will continue to be important as well. There are many players out there making individual contributions – from platforms, to molecular markers, to infrastructure, ordering, fulfillment, billing, and reimbursement. But who should take on the task of integration – which is surely needed if the benefits and efficiencies of personalized medicine are to be realized?

Personalized Medicine Is Waiting on the Shelf

November 16, 2012

While there’s a tendency to paint the future of personalized medicine as sunny, there are a number of issues persistently clouding the horizon. Bob Langreth and I examine one of these concerns in a story you can read at Bloomberg entitled, “Life-Saving DNA Test Overlooked in Rise of Colon Cancer.” Provider education has long stood in the way of patient access to genetic tests for Lynch syndrome, an inherited cause of high cancer risk. While the testing has been available for more than 10 years, enjoys recommendations from clinical and public health groups, and has been shown to save lives in studies, many providers remain unaware of its availability and power. The test costs as little as $300 in families where the mutation has already been identified. People who test positive can take preventive action with frequent monitoring, perhaps having vulnerable tissue removed.  Yet in too many cases it remains on the shelf.

How are we going to get the benefit of full genomes when simple, straightforward tests like this go unused?

John Lauerman will be participating in the panel discussion, “Impact of Genome Sequencing and Health,” at Harvard’s 8th Annual Personalized Medicine Conference, November 28-29, 2012, in Boston, Massachusetts.

The 8th Annual Personalized Medicine Conference

November 14, 2012

On November 28th and 29th, Partners HealthCare, Harvard Medical School, and Harvard Business School will host the 8th Annual Personalized Medicine Conference in Boston. As has been customary since the conference began, the meeting is also the venue at which the Personalized Medicine Coalition presents its leadership award. This year, it will go to Randy Scott, Ph.D., a founder and former CEO of Genomic Health, Inc.

During the past seven years, we have seen many changes in personalized medicine. Much of the excitement about personalized medicine continues to be driven by the ever decreasing cost of sequencing DNA and RNA. Whole genome sequencing, estimated to cost a billion dollars or more at the beginning of the century has gone down to a few thousand dollars, and the so called $1,000 genome is not too far behind. All in all, the 20,000 or so genes of the human genome only add up to less than two percent of the genome. If the sequencing cost is directly proportional to the size of DNA that is being sequenced, the cost of sequencing all genes should one day be no more $100. We are not quite there yet, but the rapid decline in costs is fueling the evolution of personalized medicine.

There is also a rapid evolution in our understanding of the genes and genomes of many organisms, including humans. Understanding how a normal gene functions and how changes in it (mutations) alter the cellular function is increasing at a rapid pace. As a result, sequencing whole genomes, whole exomes (all of the coding portions of genes), and subsets of genes for medical purposes is becoming ever more common. The fruits of all of these exciting developments are evident in many specialties of medicine but especially in prenatal testing, diagnosis of newborn and pediatric disorders, and cancer.

This year’s conference will highlight the genomic advances in science and medicine, and how they are being applied to diagnose and treat many disorders. The rapid development of technology also raises many questions about the clinical utility of these advances; about the policy and regulatory issues around what, when, who, and how to regulate; and about how the costs are reimbursed.

Personalized medicine is not just an American issue. Many nations of the world are developing strategies to implement personalized medicine in their own countries, and a number of those efforts will be featured at the conference. Professor Richard Hamermesh of the Harvard Business School and Norman Selby of Perseus LLC developed a business case on companion diagnostics that promises to be thought provoking and, based on previous years’ experience, a highlight of the conference.

Please join us at the end of November and participate in the dialog about how personalized medicine is evolving and what its implications are for your health and that of all peoples of the world.

Register online at www.personalizedmedicineconference.orgFollow the conversation online at @HarvardPMConf and #PMConf.


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