Archive for the ‘Oncology’ Category

Understanding the Complexities of Cancer and Progress in Personalized Medicine

March 14, 2012

Personalized cancer care holds much promise; it gives us confidence that targeted treatments will eliminate cancers and spare us the one-size-fits-all cancer treatments of our past. For the sake of simplicity, we want to think of personalized cancer care as a lock and key; each tumor has a specific puzzle interface, and when the puzzle piece is identified then the cancer melts. This simple message of “lock and key” is comforting because it suggests that we can achieve a new reality where we assess a tumor and choose a treatment in a very simple way, based on a tumor’s genetic makeup.

We have many exciting new targeted cancer treatments in our toolbox – consider, crizontinib (Xalkori®) for non-small cell lung cancer and vemurafenib (Zelboraf®) for BRAF mutation-positive metastatic melanoma. These therapies have been effective in patients with specific gene mutations. At the same time, as the science advances, research continues to reveal the underlying complexities of cancer and the diversity of tumors.

In the March 8 issue of The New England Journal of Medicine, the authors of “Intratumor Heterogeneity and Branched Evolution Revealed by Multiregion Sequencing” provide an exquisite roadmap of how heterogeneous and complex one individual’s cancer can be with many mutations lurking within each tumor mass, and the mutations themselves evolving over time. The picture presented by Gerlinger and colleagues, suggests the need for many keys to a myriad of locks, each tailored for a particular tumor at a particular point in time. The simple message of lock-and-key personalized medicine, where simple one-to-one decisions can be achieved, would not hold true.

This may create concern that a personalized medicine approach has created a false sense of hope. I don’t think that it is false hope, but rather a false sense of the simplicity.

There is hope. While a single needle biopsy may not create a complete picture of a cancer, biopsies are still a crucial part of characterizing tumors, using growing scientific knowledge to understand which treatments might work best. Biopsies are a starting point. A number of institutions are conducting genetic and genomic analyses on tumors. This is probably not the Holy Grail, but rather an iterative step in a long trail of scientific advances that will support personalization of cancer medicine.

In addition, new technologies are needed to improve on the information gathered, including methods to understand whole tumor heterogeneity. If we believe a personalized approach is simple, we are at risk of not building the systems needed to deal with the deluge of complex information that will need to be sorted, understood, and applied clinically in real time.

We need both the science and the information technology solutions to keep improving. New understandings highlight new opportunities to target more central cancer mutations, and to create more thoughtful treatment cocktails.

The underlying message here is that although we have made great progress, we are still early in our journey. In reality, this is a very comforting message. It would be disheartening if we had already exhausted the targeted treatment toolbox and that the best we could achieve is delayed cancer progression but not cures. By embracing the complexity of more individualized information for any particular patient and tumor, we really do have the hope of achieving personalized cancer care.

As we uncover new and unimagined pathways during the scientific discovery process, we should not be deterred or disheartened. We just aren’t there yet. We need to ensure that public policies support the continued investment of energy, attention to detail and resources required to achieve a vision for personalized cancer care.

Personalized Medicine: Celebrating Progress and Looking Ahead

September 26, 2011

The release of the American Association for Cancer Research (AACR) Cancer Progress Report last week, reminded me of the progress that has been made in cancer care since the passage of the National Cancer Act in 1971.  When President Nixon signed the law committing significant U.S. funds to cancer research, little was known about the disease and it was thought that a one-size-fits-all approach might eradicate cancer–what we know today is more than 200 different diseases; and that number will likely grow.  The personalized approach necessary to combat cancer was then not yet imagined, let alone understood.

But the progress in personalized cancer care, and in personalized medicine more broadly, has been recent.

For my September column in Personalized Medicine, I interviewed Harvard Medical School Professor of Genetics and Medicine Raju Kucherlapati, Ph.D., to discuss how personalized medicine has evolved since he launched Harvard’s annual personalized medicine meeting in 2005.  He explained that at first, business leaders and policymakers were skeptical that personalized medicine would have any impact in the near term, but that the many examples of personalized medicine products and new tools to speed innovation have changed minds and forever improved medicine.

No one better exemplifies progress in this field than President and Co-founder of the Institute for Systems Biology, Leroy Hood, M.D., Ph.D., who will be presented with PMC’s Award for Leadership in Personalized Medicine at this year’s Harvard conference. Dr. Hood envisioned the integration of scientific understanding into clinical practice by developing the first DNA and protein sequencer and synthesizer–laying the foundation for the development of personalized medicine.

I hope you will join me at this year’s Harvard conference, November 9-10, 2011, in Boston and at PMC’s cocktail reception to kick off the conference on November 8, 2011.  We will both celebrate the progress personalized medicine has made, thanks to the leadership of visionaries like Raju Kucherlapati and Leroy Hood; and discuss how we continue to move the paradigm of personalized medicine forward through scientific innovation, collaborative business partnerships, and supportive public policies.

How Personalized Medicine is Changing Cancer Care – A First Hand View

June 28, 2011

I care for people with melanoma. To give you an idea how personalized medicine is impacting care, take the example of a patient I treated at Duke Comprehensive Cancer Center 18 months ago – let’s call her Sarah.

A 37-year-old nurse, Sarah and her husband were trying to start a family. Like many melanoma patients she had fair skin and red hair. Her mother died of melanoma. She came to me after her surgeon had removed a small black-pigmented skin growth and lymph nodes under her arm. After complete review of her clinical story we diagnosed her cancer as Stage IIIB (“3B”) melanoma. Reviewing cancer statistics and matching them to Sarah’s disease tells us that Sarah had about a 50% chance of surviving 5 years.  In order to maximize her chances of long-term survival without melanoma, together with Sarah, I was trying to decide on a treatment and care plan that would reduce the chance of the melanoma returning; this is called adjuvant treatment. Sarah and I were considering whether an adjuvant treatment plan was right for her, and if so, what medicine, for how long, and with what personal impact on her life.

At this point we have one chance to select the right treatment plan, because melanoma that returns is more difficult to treat and rarely goes away for good. You go to the “cookbook,” look up the treatment guidelines and try to balance the standard-of-care with what you know about the individual needs and preferences of the patient.  In Sarah’s case, finding a balance between effective adjuvant treatment, preserving her ability to have children, and helping her maintain her job were important considerations.  The treatment guideline advised interferon, a clinical trial or no treatment, but we had few clues as to the best treatment path and certainly no information about fertility or the influence of Sarah’s genetic makeup on her ability to derive benefit from treatment.

In the year and a half since I treated Sarah, we now have new tests to predict risk and learn more about the specific tumor each patient has. Molecular descriptors about the cancer and striking radiological images provide important clues. The information available to us is getting better and better, which makes it more likely that we will hit the mark in the one shot we have to find the right treatment. In the future, I anticipate that other factors such as Sarah’s heritage, her symptom profile, environmental exposures, and personal values will also be incorporated into the decision-making process.  Sarah’s case reminds us that these are real people undertaking real and exceptionally critical decisions; we need to be able to harness all available information to maximize the chance that we make the right decision for Sarah and patients like her.

At the same time this growing wealth of information brings new challenges for physicians. The “cookbook” does not work well as we gather more detailed information about potential risks, likely side effects, and benefits of different treatment combinations. 

Physicians care about getting these decisions right for each patient. The current “cookbook”, though, is one-size-fits all. We need information science and technology (IT) to help match guidelines and predictive mathematical models informing patient care with new information available about individual patients and the type of tumor they have.  And it has to happen at the point of care, when we need it. The amount of information can be overwhelming. Evolving data systems and IT infrastructure that are reliable and trustworthy will be key to making the most of the information available. Along with this, we simply need more time with patients. We often have about 8 to15 minutes to make a decision with the patient that will affect their entire future. This is not what patient-centered care and personalized medicine are all about.

Someday I hope that when a patient like Sarah comes in I can look up her exact type of tumor, incorporate her personal family history and other medical information into the story, see what treatments she is likely to respond to, understand the potential risks, and balance her personal concerns like maintaining her fertility. Personalized medicine is advancing quickly, but we need information systems to support good decision-making for physicians and patients as the information available continues to expand exponentially.

For Cancer Therapies, It’s Getting Increasingly Personal

June 6, 2011

Last November, the Tufts Center for the Study of Drug Development reported that more than 90% of biopharmaceutical companies are investing in personalized medicine, with 12-50% of compounds in the drug development pipeline qualifying as personalized medicines. According to the report, personalized medicine is having an impact across disease areas, but is most evident in new therapeutic approaches to oncology.

The latest research reported at this year’s annual meeting of the American Society of Clinical Oncologists taking place over the weekend in Chicago reflects the same momentum and enthusiasm for the potential of targeted therapies in advancing the treatment of cancer. A front-page article by Ron Winslow in today’s Wall Street Journal, “Major Shift in War on Cancer,” explores some of the exciting personalized medicine therapies under development for cancer, highlighting new data presented at ASCO.

Winslow notes, “New research is signaling a major shift in how cancer drugs are developed and patients are treated—offering the promise of personalized therapies that reach patients faster and are more effective than other medicines.” The article nicely illustrates the promise of the science as well as some of the challenges facing researchers, companies and regulators.

This Thursday, PhRMA President and CEO John Castellani will continue the discussion of promising advances on the horizon for personalized medicine at the Personalized Medicine Coalition’s Seventh Annual State of Personalized Medicine Luncheon at the National Press Club. We hope to see some of you there. To register for the luncheon, visit:

Personalized Medicine Opens New Pathway to Get Needed Treatments to Patients

April 26, 2011

Should the Food and Drug Administration (FDA) provide post-Phase 1 study accelerated review of biomarker-linked cancer medicines? In a recent, provocative article in the New England Journal of Medicine, Bruce Chabner, M.D., argues that they should. Dr. Chabner, former director of the National Cancer Institute’s Division of Cancer Treatment argues that our growing ability to target therapies to patient subgroups based on molecular or genetic diagnostics necessitates a shift to earlier approval.

In his editorial, Early Accelerated Approval for Highly Targeted Cancer Drugs, Dr. Chabner, now at Massachusetts General Hospital Cancer Center, highlights research on two targeted therapies to illustrate how biomarkers can be used to match therapies to patients most likely to benefit and/or least likely to suffer harm from an experimental treatment:  PLX4032 (for patients with BRAF mutated melanoma) and crizotinib (for patients with EML4-ALK fusion in non-small cell lung cancer).

Both of these treatments were able to progress directly from Phase 1 to Phase 3 studies through use of validated biomarkers, Dr. Chabner says. But with the typical cancer drug taking seven years to complete clinical trials and gain FDA approval, the process is still “expensive and time-consuming, usually taking two to three years to reach survival end points.”  In addition, phase 3 trials still require a control group to receive the standard of care, depriving some patients of the experimental treatment with potentially better response rates and less toxicity.

While other accelerated paths provide patients access to promising therapies (i.e., compassionate-use protocols and accelerated review), if we are able to define populations of patients with high response rates in phase 1 trials, prolonging drug testing and approval raises important issues. A patient with an incurable disease and the right biomarker will want access to a new therapy. Dr. Chabner argues that the new age of molecularly-guided medicine is cause for an even more rapid path to approval: “Given trialists’ ability to define patient subgroups with responsive tumors in phase 1 trials, I propose that for diseases lacking therapies that meaningfully extend survival, the FDA should set flexible standards permitting accelerated approval of new drugs after phase 1.”

Dr. Chabner’s proposal illustrates the growing and likely dramatic impact that personalized medicine will have on research and development as well as regulatory and payment standards. It also offers a potential new pathway for addressing the serious challenge of how to get potentially life-saving medications to patients as expeditiously as possible while maintaining FDA’s gold standard for safety and efficacy. His suggestion reinforces the critical need for science and policy to work hand in hand in the advancement of personalized medicine. As the science leads the way in increasing our understanding of what therapies work best for which patients, regulatory policy will need to evolve as well.

The Patient as Collaborator: How Personalized Medicine is Giving Back to the Patient

December 21, 2010

While the advancement of personalized medicine hinges on collaboration among all stakeholders from researchers to industry to clinicians to policymakers, the ultimate stakeholders in personalized medicine efforts are the patients themselves.  In Total Cancer Care™, patients are not only the ultimate beneficiary, but also the major contributor to the effort.  More than 90% of patients who are invited to participate in the Total Cancer Care™ Protocol accept this offer.  This high participation rate is primarily a reflection of the intrinsic altruistic nature of patients and their desire to contribute to the solution through research.    We formed a Patient Advocacy and Ethics Council to assist us in developing and implementing the Total Cancer Care™ Protocol.  We asked this group, “What can we give back to the patient, not just those patients who may develop recurrent disease, but also those who may be cured by initial therapy?” (Approximately 55% are long term survivors.)  Without hesitation, the council told us that all patients desire to have access to their own information in a usable and understandable format.

To that end, we developed a Patient Portal to the data warehouse which provides patients with their own medical histories, data and other important information.  Under the leadership of Mark Hulse (formerly of Partners Healthcare) and Dr. David Fenstermacher, we began this effort at Moffitt in October 2009, and we are gradually extending the portal access to all patients.   Our goal is to extend this service and resource not only for patients at Moffitt but for all patients at all consortium sites.  Much work needs to be done in this area and requires a much improved “real-time” information system.  We also are developing the system to not only be a repository of patient’s personal health records, but a portal where the patients can use the information to make informed decisions.  Again, working with the Institute of Human and  Machine  Cognition (IHMC) we are developing virtual learning technology and applying a process called C-map tools, originally developed at IHMC, to assist patients and physicians to navigate the Internet resources to ultimately meet patient’s needs.

In summary, these are very exciting times.  I truly believe we are at the threshold of translating and just as importantly, DELIVERING on the promise of personalized medicine.  We hope that our effort in developing Total Cancer Care™ will be a major part of the foundation of what some day will be considered common place—a healthcare system and technologies that are organized in such a way that every patient’s needs are identified and inform an individualized approach to meet their needs.  Primary stakeholders in developing personalized medicine, including researchers, clinicians, industry, policymakers, and patients themselves must come together to organize the framework and environment to promote personalized medicine.  It is unrealistic to expect any one stakeholder to collect the resources needed to create a rapid learning information system that will be required to capture data, leverage and enhance informatics needed for analysis, and communicate new knowledge to all the stakeholders involved in developing a better healthcare system built on the foundation of personalized medicine.  Teams comprised of broad expertise across the healthcare and research spectrums, and an unprecedented effort by all will be required to exploit the advantages of the necessary team science approach.  To complement the scientific infrastructure and technology that has already been developed, additional resources will be required including expanding information systems to community hospitals and physician practices, such as electronic medical records, biomedical informatics applications, and information technology professionals.  Ultimately, by developing evidence-based healthcare systems, we will improve the quality of healthcare by identifying best options for patients based on their personal traits and characteristics; such is the promise of personalized medicine.

The Role of Comparative Effectiveness Research in Total Cancer Care™

December 20, 2010

In my previous entry, I discussed how the launch of the Total Cancer Care™ initiative at Moffitt Cancer Center nearly eight years ago led to the development of one of the largest prospective observational studies in the world.  Through the enrollment of more than 60,000 patients and collection and genetic profiling of tens of thousands of tumors, Total Cancer Care™ collaborators have generated a vast information system to be leveraged as a clinical decision tool, and as a means of quality performance and comparative effectiveness research (CER).

One of the stated aims of Total Cancer Care™ is to raise the standard of care for all patients by integrating new technologies in an evidence-based approach to maximize benefits and reduce costs.  Although we developed this aim over seven years ago, I believe it is completely consistent with the current definition of comparative effectiveness being used by AHRQ and other policymakers. 

As I mentioned in my previous entry, strategic partnerships are an essential component to achieving the goals of Total Cancer Care™, and this is clearly demonstrated in our efforts in CER. Dr. David Fenstermacher and colleagues from Moffitt as well as the Institute of Human and  Machine  Cognition (IHMC), in Pensacola, Fla., are collaborating on a major NIH/NCI grant to enhance the Total Cancer Care™ infrastructure to support CER by expanding data management resources, integrating  automated data extraction methodologies (including natural language processing technology a particular area of expertise for IHMC), and creating user interfaces to data for researchers, clinicians and even patients. 

A major focus of our current efforts in CER is to determine the information and technology gaps in the CER infrastructure for data capture and data sharing.  Ultimately, it will be important to involve the community at large who are enrolling patients in the Total Cancer Care™ Protocol so that they can use the Total Cancer Care™ data warehouse as a decision tool based on evidence generated by the study itself.  The importance of the community network cannot be over emphasized both for populating the Total Cancer Care™ biorepository and database, and the ultimate utilization of the information and evidence generated for delivering the right treatment for the right patient.

To enhance Moffit’ts ability to establish this large research initiative the cancer center formed a wholly owned for-profit company, M2Gen, in 2006.  Merck and Co., Inc., through a Merck affiliate, signed on as our ”Founding Collaborator”. This experience has taught us how to service a global healthcare client and produce measurable scientific insights to accelerate drug candidates through translational medicine advances.

“Partnering for Cures” to Advance Personalized Medicine

December 17, 2010

I think we all would agree that finding cures and improved treatment options for cancer are a moral imperative. They will have a dramatic impact not only for those fighting the disease, but also for the families, friends, healthcare providers, and other caretakers that support them in their battle.   Personalized molecular medicine provides a promising path forward in cancer care, but accelerating this research requires the brightest minds, great laboratories, cross-disciplinary collaboration, rich software tools and LOTS of relevant, annotated, real-time data. Today, we are missing the “LOTS of data” piece, because our health information technology (HIT) and consent systems are not effectively connected for either the improvement of care or the acceleration of research.

Estimates in the U.S. indicate that more than 1.5 million will be diagnosed with – and more than a half million people will die of – cancer in 2010. And, as of 2007, 11.7 million Americans were living with the disease. Of those 11.7 million cancer survivors, it’s estimated that only 5% are enrolled in clinical trials, and only 15% are being treated at major research centers – which means more than 9 million people with cancer are not part of formalized research.  This is a highly motivated community, many of whom would welcome the chance to participate in research that could help their children, or their children’s children, receive more effective treatments if they suffer from the disease.

In partnership with the National Cancer Institute (NCI) and SAIC, we have built a prototype to demonstrate that we can solve this problem now. Earlier this week at the Partnering for Cures conference in NYC, Ken Buetow, Ph.D., Director at the Center for Biomedical Informatics and Information Technology at the NCI and Dr. Jon Handler, from Microsoft’s Health Solutions Group, presented a jointly developed prototype that showcases the potential for information technology to accelerate personalized healthcare research and improve clinical care.  Dr. Buetow talks here about the information challenges faced by researchers, providers and patients, and looks at the potential for technology to drive meaningful transformation in support of these stakeholders’ needs.

The prototype uses Microsoft HealthVault and the Patient Outcomes Data Service (PODS) created by the NCI to collect provider and patient-generated data on cancer diagnoses, treatments and outcomes. Since PODS and HealthVault are easily accessible outside research centers, the prototype highlights ways to engage a broader set of clinicians and patients in research – making it easier to reach those 9 million people who are not currently represented in research studies. In addition, gathering regular reports from patients on their experience with cancer treatments – for example, tracking daily pain levels, sleep patterns and mood – can provide researchers and clinicians with a richer set of data for understanding the impact of cancer treatments, particularly among certain patient sub-types and populations.

Using Microsoft Amalga, this data can be made anonymous and aggregated with data available in other research databases to create a disease registry that enables more complete analyses of the efficacy of cancer treatments.  Providers and patients have the opportunity to not only contribute their own information to benefit others; they can also view trended data from across similar patient populations, enabling shared decision-making around diagnoses and treatment plans.  

While the prototype we built focused on cancer research, there is potential to use HIT to further the personalization of treatments for other diseases  – Parkinson’s, Multiple Sclerosis, and Alzheimer’s – and begin to see how we can use the power of technology to create closer connections and valuable feedback loops across providers, patients and researchers.  Ultimately, we hope this will translate to people arriving at critical insights more quickly and partnering with each other to not only improve the care of the individual patient, but also to find cures for cancer and other devastating diseases.

Peter Neupert is a Corporate Vice President in Microsoft Health Solutions Group.

Using Cancer(s) as a Model for Advancing Personalized Medicine

November 17, 2010

I am pleased to be attending this year’s Personalized Medicine Conference taking place this week and appreciate the opportunity to discuss why I, and many others, believe that cancer, or to be more accurate “cancers”, are an ideal model for the discovery, translation and delivery of personalized medicine.  Sheer numbers alone are reason enough to highlight the need for developing a personalized approach to cancer care: 1 out of 2 men and 1 out of 3 women will develop cancer in their lifetime in the United States.

The sequencing of the human genome has unraveled many mysteries as to how a normal cell can go awry and become cancerous. Further understanding of not only the genetics of cancer, but also the biology and metabolism of cancer, have increased our knowledge of biologic systems that support cancer progression, and this new knowledge has been translated into novel strategies for early detection, prevention and treatment.  And yet, these new discoveries that have heightened expectations of success have, in large part, fallen short in delivering cures anticipated by society.  The reality is that we have learned that cancer is actually an array of many diseases masquerading under the single name of “cancer.”   We need to learn to embrace the complexity of this disease we call cancer and stop the attitude of tunnel vision to cure cancer, and instead focus more on caring for the patient, the individual.  National policy must promote the search for solutions, not just cures.  Ultimately by providing solutions, we will reduce, and in many cases, eliminate death and suffering due to cancer.

In order to accelerate what is a continuum of discovery, translation and delivery of personalized medicine, or in this case personalized cancer care, multiple stakeholders must come together to pursue and deliver this common goal.  These stakeholders include researchers, clinicians, administrators (including policymakers and regulators), and of course, patients themselves.  This week’s gathering of the personalized medicine community in Boston is an example of the value of physically bringing together these stakeholders, and is an important forum for the discussion, exchange of ideas, and aligning of objectives that are crucial to the advancement of personalized medicine.

Total Cancer Care: An Approach to Creating Solutions for the Advancement of Cancer Research and Improved Care

Building on the themes of this year’s event – Personalized Medicine: Impacting Healthcare – I would like to describe to you one approach to personalized cancer care that is having a significant impact on the lives of patients. Nearly eight years ago, the Moffitt Cancer Center in Tampa, Fla., launched the Total Cancer Care™ initiative with the goal of identifying all the needs of a patient and developing a means to meet those needs.  By focusing on solutions to meet individual needs, we believed we could reduce death and suffering due to cancer, and that in order to do so we needed to develop strategic partnerships to perform the five following aims:

  1. Create a system to identify the needs of individual patients
  2. Identify markers that would predict needs and risks so that interventions could become preemptive
  3. Identify molecular signatures for patients who are not likely to respond to standard of care
  4. Utilize clinical characteristics and molecular profiling techniques to match the right patient to the right treatment at the right time and the right place
  5. Raise the standard of care for all patients by integrating new technologies in an evidenced based approach to maximize benefits and reduce costs

Critical to the pursuit of these solutions was the development of a large regional cancer biorepository in parallel with the development of a relational data warehouse and an information system containing patient’s clinical data and molecular data. 

We soon recognized that although Moffitt had a large patient population to study and engage in this endeavor, to accomplish our goal, we ultimately needed hundreds of thousands (if not millions) of patients to study, and we sought the advice and support of our Florida network of hospitals and physicians.  To our pleasure, there was universal enthusiasm from our statewide colleagues to participate in what became the Total Cancer Care™ Protocol.  Dr. Tim Yeatman at Moffitt was the original Principal Investigator of this IRB- approved protocol which enrolled its first patient in 2006 and basically asked for patients’ consent to do three things:

  1. Can we follow you throughout your lifetime by collecting and storing your clinical data and information?
  2. May we study any excess tumor or normal tissue using molecular profiling techniques?
  3. May we re-contact you?

What began at Moffitt within a year had been extended to eight different communities in Florida.  Within two years, this effort expanded to nine more communities in 10 different states, for a total of 18 participating sites.  Together, the 18 different sites form the Total Cancer Care™ Consortium with the aim of informing and consenting patients to the Total Cancer Care™ Protocol.  As of November 1, 63,754 patients have consented to the Total Cancer Care™ Protocol; 21,331 tumors have been collected and stored in a high technology biorepository located at Moffitt; and 15,093 tumors have been profiled using gene expression profiling technology.  To my knowledge, this effort makes Total Cancer Care™ one of the largest, if not the largest, prospective observational studies with tumor collection in the world. 

Ultimately, our community colleagues are not only contributors to establishing the foundation of personalized cancer care, but also the beneficiaries by being able to use the information system as a clinical decision tool, and as a means of quality performance and comparative effectiveness research.

In coming weeks, I am looking forward to further discussing the role of comparative effectiveness research in Total Cancer Care ™, and how the patient is not only a participant, but also the ultimate beneficiary of everything we do.

Genomes to Health: The Path to Better and More Personal Cancer Care

May 20, 2010

We now recognize that most cancers are not one disease, rather they appear to be many complex diseases with distinct causes. Even so, doctors make decisions every day (about 700,000 decisions every year in the U.S. alone) about how to treat individual patients’ cancers without the benefit of tools that could define important underlying characteristics of each and every unique tumor. Much-needed guidance is lacking for choosing among treatment options for the individual.

Genomic information and tools that have emerged in the past decade could change this—starting today. At Duke, we have been wrestling with how to translate genomic science and information into something that can be made practical and accessible to patients and their physicians.

The key to making these novel findings from genomic medicine a part of standard medical practice is to show that they actually improve patient care and disease outcomes. Genome-guided clinical trials and research from a new cancer registry led by the Duke Institute for Genome Sciences & Policy are moving genomics into clinical care for breast, prostate and lung cancer. We plan to expand our efforts in other cancers, as well as other common diseases such as type 2 diabetes. 

Through participation in these trials or the registry, some patients and their physicians at Duke and in an emerging genomic trials network are now getting early access to this kind of genomic information while they help build the future of medicine, which we believe can be both better and more cost effective.

We call this initiative “Genomes to Health”, and here’s how it works. A person with breast, lung or prostate cancer comes to Duke or one of our network partners around the country for evaluation and consents to having a biopsy for genomic and genetic analysis. Based on the characteristics of the patient’s disease, and the results of their biopsy analyses, several options are possible including:

  • The patient is deemed eligible for one of the ongoing genome-guided clinical studies in breast, lung and prostate cancer and is offered the opportunity to enroll in the trial.
  • The patient is not eligible for one of the Duke trials but may be eligible for an ongoing trial outside of Duke and is referred to that study.
  • If the patient is not eligible for an ongoing clinical trial, either at Duke or at an outside institution, the patient can be entered into a registry study in which their clinical outcomes will be followed for future study and possibly future eligibility in a genome-guided study.

For more about ongoing genome-guided clinical trials and the registry, visit

This initiative at Duke is just one of many such efforts around the country to use robust health databases and informatics tools to combine clinical and genetic information to support higher quality, more personalized care.  Innovations like these are part of the answer to containing costs while improving outcomes and the patient experience.

Geoff Ginsburg is director of the Center for Genomic Medicine at the Duke Institute for Genome Sciences & Policy.

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