Posts Tagged ‘personalized medicine’

BREAKING NEWS: FDA Notifies Congress of its Intent to Publish Framework for Regulatory Oversight of Laboratory Developed Tests (LDTs)

July 31, 2014

Summers in D.C. are notoriously slow. FDA, however, has added excitement to this summer by informing Congress of its intent to publish a long-awaited framework for LDT regulation.

In its notice to Congress, FDA included what appears to be a draft of the document. After the mandatory 60-day Congressional review, the draft guidance document will be formally issued for public comment.

Within the draft framework, FDA proposes a risk-based, phased system of oversight. They recognize community concerns around access and do not intend to interrupt the marketing and sale of currently available tests. Furthermore, FDA expresses the intent to continue using enforcement discretion for forensic and organ transplantation uses, traditional LDTs, and LDTs for unmet needs.

The document outlines the history of LDT regulation, FDA’s policy of enforcement discretion, and how personalized medicine has caused FDA to reconsider that policy.

We will continue to provide updates on the development of framework for regulatory oversight of LDTs, with additional in-depth commentary next week on this issue and the related news of FDA’s final guidance on companion diagnostics.

For additional information on the current regulation of LDTs, please read PMC’s report “Pathways for Oversight of Diagnostics.”

Ensuring a Personalized Future through Diagnostics Policies

July 30, 2014

In a time of rapidly rising healthcare costs, personalized medicine offers a more efficient approach to prevention, diagnosis and treatment.

However, special considerations and thoughtful policies that acknowledge the emerging and varied technology (and challenging science) at play are needed in order to ensure access to personalized diagnostics and treatments, while also encouraging further investment and development of technologies. Just as personalized medicine is moving us away from a one-size-fits-all approach to healthcare, we must too move away from one-size-fits-all approaches to reimbursement.

The Personalized Medicine Coalition recently released “The Future of Coverage and Payment for Personalized Medicine Diagnostics.” The white paper takes a critical look at the policies of the Centers for Medicare and Medicaid Services, which in turn inform the decision making process for payers. Three specific challenges to the further implementation of personalized medicine diagnostics are identified:

  • Reimbursement levels that ensure access while also encouraging development
  • Inconsistent standards for evaluating genomic tests
  • A lack of incentives for genomic medicine

As we continue our journey in the post-ACA healthcare landscape, the need for objective, reliable and clearly defined standards for evaluation and reimbursement continue to grow. Uncertainty – especially in the form of payment – does not inspire investment or fuel growth through R&D.

Required Reading: June 2014

June 24, 2014

Great stories are published daily about the impact personalized medicine is having on individual patients, and the medical community as a whole, but it can be a challenge to stay on top of the news. With that in mind, we bring to you a monthly roundup of the three to five most thought-provoking articles we are reading, sharing and discussing with our colleagues.

This is the first installment of Required Reading.

Drugmakers Find Breakthroughs in Medicine Tailored to Individuals’ Genetic Makeups by Brady Dennis, The Washington Post

One-size-fits-all blockbuster drugs are giving way to treatments tailored to individuals’ genetic makeups. This article highlights the advantages of these targeted treatments, posing important questions that regulators, drug makers, insurers and patients alike need to consider as more specialized drugs come to market, including who will benefit and how to ensure patients have access to life-saving treatments.

In a First, Test of DNA Finds Root of Illness by Carl Zimmer, The New York Times

Diagnosis is a crucial step in medicine, but it can also be the most difficult. A new DNA sequencing technology, called unbiased next-generation sequencing, can identify a pathogen by testing DNA samples from a patient and then comparing fragments with genetic sequences stored in online databases. This technology has the potential to not only provide speedy diagnoses to critically ill patients, but could lead to more effective treatments for diseases that can be hard to identify.

The Perfect Drug by Erin Biba, Newsweek

This article highlights how continued innovation in our understanding of cancer and the emergence of companies providing personalized treatments helped change one patient’s life by turning his cancer diagnosis from a death sentence into a managed chronic illness.

Keeping the Patient at the Center of Cancer Innovation by Amy Abernethy, M.D., Ph.D. and Arif Kamal, M.D., The Hill’s Congress Blog

Hot on the heels of the 2014 American Society of Clinical Oncology annual meeting and Institute of Medicine’s National Cancer Policy Forum earlier this month, this op-ed focuses on the role of medical innovation and patient-centered approaches in the growing discussion on the cost and value of cancer research and care.

Making the Case for Personalized Medicine

June 18, 2014

As lawmakers, industry, consumer groups and the general public debate the future of health care, personalized medicine continues to focus attention-with good reason. In a time of unprecedented scientific breakthroughs and technological advancements, personalized health care has the capacity to detect the onset of disease at its earliest stages, preempt the progression of disease, and, at the same time, increase the efficiency of the health care system by improving quality, accessibility, and affordability.

With that in mind, I’m excited to announce the release of the fourth edition of Personalized Medicine Coalition’s signature document, The Case for Personalized Medicine, which notes the steady development of the field. Most notably, in 2006, there were 13 prominent examples of personalized drugs, treatments and diagnostics on the market. In 2011, there were 72, and today there are 113-a 57 percent increase in the last three years.

Along with this steady growth, we also examine opportunities for the continued development and adoption of personalized medicine as several factors come into play: the cost of genetic sequencing declines, the pharmaceutical industry increases its commitment to personalized treatment, and the public policy landscape evolves. While momentum is building, much remains to be done to keep up with the evolving developments in science and technology, according to the report. With all this progress comes a greater responsibility to actually help patients by advancing personalized medicine to make it standard practice in the near future.

According to The Case, personalized medicine can accomplish the following:

  • Shift the emphasis in medicine from reaction to prevention
  • Direct the selection of optimal therapy and reduce trial-and-error prescribing
  • Help avoid adverse drug reactions
  • Increase patient adherence to treatment
  • Improve quality of life
  • Reveal additional or alternative uses for medicines and drug candidates
  • Help control the overall cost of health care

But to advance personalized medicine, we need intelligent coverage and payment policies, clearer regulatory guidelines, and modernized professional education to prepare the next generation of doctors and other health care professionals for personalized medicine.

PMC is pleased to partner with BIO and release this report at the Personalized Medicine & Diagnostics Forum at this year’s meeting. The Forum takes place next Wednesday, June 25 at 9 a.m. PT in room 7AB and will explore many of the salient issues facing personalized medicine, as discussed in The Case. If you’re onsite at BIO this year, come check out the forum. We’d love to hear your thoughts on the current personalized medicine landscape and what’s to come.

The new edition of The Case for Personalized Medicine will be available online June 25 at 9 a.m. ET, but in the meantime, check out PMC’s other publications here.


This blog post originally appeared in BIOtechNow, the blog of the Biotechnology Industry Organization (BIO).

 

Key SGR Fix Brings Relief to Diagnostics Industry

April 8, 2014

On April 1, the diagnostics industry let out a collective sigh of relief as President Obama signed into law HR 4302. Officially known as the Protecting Access to Medicare Act of 2014, many refer to the law as “Doc Fix” or “SGR fix”, focusing on the delay, yet again, of the 24 percent physician pay cut as a part of Medicare’s sustainable growth rate (SGR) formula.

However, my attention, along with that of the diagnostics industry, focused on the provisions in the law that protect clinical diagnostics from unpredictable repricing (subscription required) under the Centers for Medicare and Medicaid Services (CMS) Clinical Lab Fee Schedule (CLFS).

The passage of this law showcases the need and value of the industry to unite in highlighting policies that, though unintended, challenge innovators by creating an uncertain reimbursement environment. Predictable reimbursement policies encourage exploration and innovation within the diagnostics community, improving health care through advances in diagnosis and beyond.

This law acknowledges the transformative scientific advancements the industry has achieved in recent years, catching our policies up with our technologies.

Many questions remain as we look at the implementation of this law, and as such we remain committed to convening the personalized medicine community to work in collaboration with CMS.

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.

A Look at the Regulation of Diagnostics

January 24, 2014

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

January 15, 2014

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

January 9, 2014

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. 


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