Archive for the ‘Diagnostics’ Category

Required Reading: August 2014

August 28, 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 August 2014 installment of Required Reading.


The Price of Personalization by Timothy Gower, Proto Magazine

This article explores the growing debate over the cost and value of personalized medicines and identifies ways that the healthcare system may need to adapt to accommodate the development and use of increasingly more targeted therapies that work for smaller patient populations.

FDA to Regulate Thousands Of Cancer, Genetic, and Other Diagnostics by Matthew Herper, Forbes

Earlier this month, the U.S. Food and Drug Administration (FDA) announced plans to regulate laboratory developed tests, many of which are diagnostics developed as result of the exploding field of genetics. The new regulatory framework proposes that any test used to diagnose a disease or to decide on a course of treatment will need to be cleared by FDA before it can be utilized.

It’s Time for Us to Think About Cancer Differently by Paul Mejia, Newsweek

A recent genomic study published in the journal Cell suggests that 1 in 10 cancer patients could be more accurately diagnosed if cancer were defined by molecular and genetic characteristics, rather than by where it is located. Researchers believe that reclassifying cancer by identifying the type of cell that caused the disease, instead of the tissue type, could ultimately lead to better treatment in the future.

RNA Combination Therapy for Lung Cancer Offers Promise for Personalized Medicine by Kevin Leonardi, MIT News

Early research at the Koch Institute for Integrative Cancer Research at MIT offers promise for personalized cancer treatments using RNA combination therapies to improve therapeutic response. The development of an efficient delivery system of individual or combined small RNAs to solid tumors could help regulate genetic mutations underlying a given patient’s cancer.

Survey Reveals Insights About Awareness, Understanding of Personalized Medicine, Part 1

August 22, 2014

Earlier this year, the Personalized Medicine Coalition (PMC) commissioned U.S. Public Opinion About Personalized Medicine, a nationally representative survey of 1,024 adults gauging consumer awareness, knowledge and attitudes about personalized medicine.

The key findings of the survey were positive. Although less than 4 in 10 Americans had heard of it prior to being surveyed, respondents are interested in learning more about personalized medicine and are supportive of the concept. For those who had heard of personalized medicine, their knowledge was shallow and did not associate the term with diagnostic testing or targeted treatments. This highlights the need for education to a willing public.

When the surveyed individuals were given a definition of personalized medicine, approximately two-thirds were receptive and expressed positive opinions about its prospects.

Respondents easily pointed out the major benefits of personalized medicine, noting that it could give them more knowledge to prevent or treat their illness, help them choose the most effective treatments with their doctors, and lead to a decline in unnecessary treatments, side effects, invasive procedures and trial and error medicine.

Many of the individuals who were surveyed even raised questions, specifically regarding the efficacy, potential risks, cost, access and affordability. A majority agreed that insurance should cover personalized medicine if it is recommended by a doctor.

We’re at the beginning of the golden age of personalized medicine. Armed now with a clear picture of the public’s opinion, we have an opportunity to raise awareness and increase understanding of what personalized medicine is, and how it can transform approaches to healthcare delivery.

Stay tuned for part two of this blog post series as we hear from leading experts, and the researcher who conducted the survey, on what key benefits of personalized medicine they think the public needs to know about in order to embrace this approach to healthcare.

In the meantime, learn more about U.S. Public Opinion About Personalized Medicine and review the survey findings by viewing the slideshow below or visiting the PMC website.

FDA Outlines Personalized Medicine Policy with Publication of LDT Draft Guidance Document, Final Guidance on Companion Diagnostics

August 15, 2014

On July 31, FDA announced drastic changes to regulation for personalized medicine products and services when it coupled the release of the long-awaited final guidance document on the regulation of companion diagnostic devices with a proposed framework for regulating laboratory developed tests (LDTs), which was also long-awaited or long-feared, depending on your perspective.

The final guidance on In Vitro Companion Diagnostic Devices was welcomed by the personalized medicine community because in the document, FDA clarified the path for co-developed drug-diagnostic products, and finalized their assertion that new targeted therapeutics will not be kept from the market if the diagnostic kit is not ready at the same time. This enables promising new drugs to come to market while also allowing the laboratory community to fill testing needs in cases where an FDA-approved kit is not available for therapeutic selection, dosing and avoidance decisions.

However, many issues remain to be addressed.

To address concerns that FDA regulation will pose obstacles to an already challenged laboratory industry, there is a rather long transition phase — nine years — and an initial focus on high-risk. FDA defines high-risk LDTs as those with the same intended use as cleared or approved companion diagnostics, LDTs with the same intended use as an FDA-approved Class III medical device, and certain LDTs for determining the safety and efficacy of blood or blood products. This focus and transition period will allow clinical laboratories and FDA time to adjust. By focusing initial regulation on high-risk LDTs, FDA makes a strong argument for the framework, and slices off a rather small segment of the LDT market.

Many have argued that FDA does not have the bandwidth to regulate LDTs. FDA responded to this claim by reiterating enforcement discretion for the vast majority of LDTs and outlining a process for LDT regulation, which might be less onerous than traditional regulatory pathways for medical devices.

Although FDA made great efforts to address concerns about the Agency’s new regulatory enforcement, it did not address perceived conflicts between laboratory regulation under Clinical Laboratory Improvement Amendments (CLIA) and this new framework. Furthermore, FDA intends to use an expert advisory panel to provide recommendations to the Agency on LDTs risks and classification on certain categories of LDTs, as appropriate. I suspect that defining those categories will be contentious and, at times, difficult.

Investors have long argued that clarity is necessary in both regulation and reimbursement for continued advancement of personalized medicine. We now have clarity on FDA’s current thinking although many issues remain unresolved. The community has time to consider this framework and may soon have a chance to provide public comments. And finally, the pharmaceutical industry has the FDA’s assurance that targeted treatments will not be held up by co-development challenges.

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.”

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.

New Approaches for Practical Challenges in Personalized Medicine

January 27, 2014

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

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.

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.

Balancing the Need for Guidance, Communications, and Education to Support Innovation in Personalized Medicine Diagnostics

May 13, 2013

Recently, I had the opportunity to moderate a thought-provoking panel at the PMC/BIO Solutions Summit. The summit brought together key stakeholders to discuss solutions to barriers in the development of innovative personalized medicine diagnostics. A big question for those developing potentially game-changing technologies in an increasingly cost conscious environment is the need for “Evidentiary Standards and Data Requirements for Payer Coverage.”

Determining the data requirements for coverage is becoming an increasingly frustrating issue for diagnostics manufacturers, which face rising demands for evidence but continued lack of clarity about payer standards for evidence-based decision-making, leading many to ask the question, “Why can’t payers just tell us what their standards are?” Complicating the picture is that diagnostics can come to market via different pathways with different levels of supporting evidence (e.g., companion diagnostics reviewed by FDA for clinical validity with the companion therapeutic and tests developed, validated, and introduced to the market by laboratories).

The panelists – who represented leaders from industry, non-profit advocacy, and government working to create solutions for some of these market access barriers – noted a couple of issues at play. One is that having a payer “pick list” or hard criteria for coverage removes the flexibility that is so often needed in these gray-area coverage decisions. The second is that given the volume of products they are evaluating, most payers don’t have the bandwidth to be experts in the nuances of the trial design for every technology. Third is that across all stakeholders, there is a wide range of knowledge on innovative products and personalized medicine and that basic education for the majority of stakeholders to better understand these products is lacking.

Several lessons and next steps came out of this discussion. 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.

At the end of the day, it may be incumbent on the molecular diagnostic community to shape the paradigm for evidence requirements so that payers can act as enablers, rather than watchdogs.


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