PROLOGUE

By Michael O. Leavitt

Secretary of Health and Human Services

We often tell ourselves that we live in an age of “medical miracles.” So it might seem heretical to suggest that in the not-too-distant future, people could be looking back and concluding that medical care in 2008 was still in a relatively primitive state. And yet the case can be made.

Not that we’re in the time of the shamans. We look to science, technology and proof – not magic – for the tools of medicine. Yet even with our strong science base, it is only in recent decades that we’ve noticed how haphazardly we use that base. The work of John Wennberg and others, beginning in the 1970s, has shown how much variation exists from region to region in standards of medical practice, as well as the outcomes and costs of care. Hence the emphasis today on “evidence-based care” – the need for a process that identifies which treatments work most effectively for which conditions. The quest for evidence-based care is a worthy one. But it also illustrates how far we remain from a well-organized system that delivers the best care to each patient.

Even more than that: We are at an early stage in our ability to differentiate between variations in the biology of individual patients and provide effective treatment for different diseases. We have developed powerful pharmaceuticals – yet most drugs prescribed in the United States today are effective in fewer than 60 percent of treated patients. This efficacy rate reflects the variability of metabolism or other factors from person to person. One study has found that prescribed drugs are ineffective or less effective for at least 70 percent of those who take ACE inhibitors and beta-blockers, for nearly 40 percent of those prescribed antidepressants, and for at least 30 percent of those prescribed statins for high blood pressure or given beta2 agonists for asthma. It remains common medical practice to follow a trial-and-error process for finding the right diagnosis, the right treatment and the right pharmaceutical dosage for each patient.

Even our definitions of diseases remain rooted in 18^th and 19^th century terms. We refer to asthma, but there are many varieties of asthma. From a treatment perspective, they are actually different diseases, yet we are barely at the cusp of being able to identify them accurately and provide the right treatment at the first encounter. We refer to colon cancer, but this term is really a surrogate for five different known diseases. We refer to breast cancer, but in reality there is no such single disease – rather, cancers of different kinds may arise in breast tissue. From a treatment perspective, the notion of treating “breast cancer,” as opposed to a cancer that arises from dysfunction in a particular gene-based mechanism, is already outdated. One result is that most women who are treated with dangerous, painful and expensive chemotherapies are receiving treatments that are actually ineffective for their condition.

On the other side of the ledger is our opportunity for increased medical effectiveness through the ability to differentiate diseases more accurately – to the point of redefining disease. In the case of blood cancers, the only available diagnoses some 80 years ago were leukemia and lymphoma. By 1950, three forms of leukemia and two kinds of lymphoma had been identified. Today, we have identified 38 types of leukemia and 51 types of lymphoma. These distinctions have helped steer drug development such that treatment can often be highly personalized and survival rates for many of the subtypes have gone from virtually zero to as high as 90 percent.

And then there is the state of information in health care. In a time when information technology has transformed most other sectors, with particular benefit to the consumer, the health care sector, with its paper files, often inaccessible records, and incomplete patient data, stands out as primitive indeed.

These constitute serious limitations on our ability to deliver the right care to the right patient at the right time. However, with the completion of the Human Genome Project and the subsequent torrent of new biological discoveries at the molecular level, we foresee the possibility that a new door may open in medical care. As our knowledge in these areas increases, we should acquire a new, clearer, more precise and increasingly actionable view of human health and disease. At the same time, modern information technology can be used to support physicians and consumers alike in improving health care and health maintenance.

In the coming years, we will strengthen our evidence base for heath care, and we will find new ways to help providers deliver the best standard of evidence-based care. We will also be moving rapidly toward a new, molecular-based understanding of health and disease. Over time, these two vectors will meet. In that way, we will develop not only the tools to help providers deliver the care that works best “on average,” but at the same time we will develop a new class of tools for identifying and employing the best care for each individual patient.

This is the goal called “personalized health care.” In some ways, there is nothing new about the goal of personalizing health care. It has always been the intention of the health professions to deliver personalized care, and we rely on the experience and intuition of physicians and nurses to deliver the most effective and individualized care possible with the tools that are available. But in other ways, there is everything new about the capacities we hope to develop in the coming years: molecular-based diagnostics and therapy development, supported in the clinic and at home by modern information technology.

We have the prospect of new medical tools that will:

help us achieve the right diagnosis and prescribe the right medication for the particular individual and exact condition, steadily improving on traditional trial-and-error approaches;
enable us to spot the onset of disease even before symptoms appear, and take action to preempt or delay onset of the condition; and
help us identify our own predisposition to disease, so that we can take more effective steps to prevent it.

And with a widespread foundation of interoperable health information technology, consumers and providers should have:

fast and reliable access to their personal health data in an electronic health record, perhaps even including their own genetic profile;
new software support tools to help them make the best decisions based on their own personal health data and the particular characteristics of a disease; and
the opportunity to take part in a “learning health care system,” where data from very large numbers of patients and clinical encounters will support much more rapid learning and new opportunities for individualizing care.

This marriage of new biological knowledge with new information tools is a powerful combination. Yet there is another element to this vision of the possible future. Personalized health care is not only about precision and effectiveness for practitioners – it is also about a new role for the consumer and patient. It’s about a future in which medical information will be not only better, but also more accessible. As the number of factors involved in health care decision-making become more than a human brain can process, we will develop informatics tools to make those factors manageable. Over time, these tools will surely not remain confined to health care professionals – they’ll become available to consumers as well. So a wealth of understandable and actionable health information will emerge – and that will have the effect of democratizing the process of health care itself.

The “person” in personalized health care is at the core of the change that I anticipate. Clinicians will indeed be enabled to diagnose and treat with ever-greater precision. But at the same time, a growing role for the patient as decision-maker, supported by new information tools, will be a prominent feature marking a new age of personalized health care. To my mind, this can only enhance the ability of the practitioner to help patients achieve the best possible life-long health.

What will personalized health care look like? And how might each of us, as a patient, judge how “personalized” our care really is?

I would suggest six tests:

First – Do I have an electronic health record (EHR)? And in particular, do I have an EHR that is interoperable, so that it can be transmitted across different data systems securely? From a practical standpoint, the EHR is the beginning of a new level of personalization in health care. A patient’s health information, current and complete, should be available when and where it is needed in order to support the right care decisions. For the longer term, the EHR is also the foundation of other data capacities that personalize care.

Second – Does my physician provide me with a strategic plan for health maintenance, based on my own biology, family history, and other individual factors – a “Personalized Health Plan?” And do I take the responsibility to understand and act on it? Such a plan is not the same as general good-health advice. Rather it must be a personalized plan based on the patient’s own individual health factors, including risk assessment based on family health history. Over time, the strategic health plan can become increasingly sophisticated as the tools of molecular medicine are developed. But this step could – and should – be in place today.

Third – Do my physicians and other health professionals have access to decision support tools, and do they use them? And do I have access to decision support tools, as well? Decision support applications can range from simple health and treatment reminders, to advice about prescribing and warnings about drug interactions, all the way to a future in which software tools may help us understand our own genetic profiles. The important distinction is that the guidance should increasingly be based on the patient’s personal health information. An important milestone for personalized health care will be achieved when decision support tools are used as part of a patient’s EHR, interacting with the data on the EHR and yielding patient-specific decision support.

Fourth – Do I have the expectation that, whenever possible, treatments will be recommended to me based on my own biology and preferences, not merely on the basis of best guesses and population averages? Patients today have high expectations of health care, but they may be unaware of how much their individual biology (as well as their own investment in the process) may affect the success or failure of a treatment. The culture of personalized health care is one in which the patient’s investment in success is supported by an increasing amount and quality of individualized information. This capability will grow incrementally, but it will occur more rapidly if health care professionals and consumers alike seek out the opportunity to personalize treatment.

Fifth – Is my personal genomic or other molecular-level information available for clinical use? Ideally, is it included in my EHR, with appropriate privacy protections? This capability is the futuristic view of personalized health care – the day when key portions of our genetic profile or other molecular data, perhaps even our whole genome, may help guide health maintenance and treatment. Some genetic or other molecular testing is already available and used to steer treatments. But it is difficult to estimate how soon tests of these kinds may become the norm, or even which information may prove most useful for personal or clinical use. Nevertheless, the incorporation of personal molecular information into the EHR, with decision support tools to help understand and use that information, will mark the achievement of the classic picture of personalized health care.

Sixth – Do I have the opportunity, if I wish to do so, to contribute to new health knowledge by making my clinical information available for research, as part of a learning health care system? This is the step that completes the cycle of personalized health care. As consumers, we stand to benefit from new scientific knowledge, particularly from discoveries that apply to our own personal biologies and health needs. As patients, we can contribute to that discovery process and even help accelerate it. Discovery will come more rapidly if large amounts of clinical information are made available to researchers. The largest source of such information is ourselves – the millions of clinical encounters that take place every day. The aggregation of clinical data on a large scale should be feasible with interoperable electronic health records, although many issues including privacy protection need to be addressed in order to achieve “learning health care” systems of this kind. I regard it as the final test of personalization in health care – the ability to discover individualized treatments rapidly, and the opportunity for all patients, at their discretion, to support and accelerate medical discovery.

These six tests are meant to help show how personalized health care might work, as well as helping us measure how “personalized” our care may be. They recognize that personalized health care is a continuum: it draws on the historic aim of medicine to personalize treatment, and it builds incrementally on existing procedures to achieve a new class of personalized health tools. These six tests do not presuppose any particular molecular-based approach. After all, it remains to be seen which approaches may prove most effective. But these tests describe the structure and health care culture that would accommodate the kinds of new tools we anticipate.

How close are we to achieving this new kind of personalized health care? In some ways and in some places, we can see movement already underway:

A few molecular diagnostic tests already draw on genetic information to steer treatments. In cancer, HIV/AIDS and other areas, these initial products are being used to direct treatments to patients for whom the treatments will be effective. For example, testing for the HER2/neu receptor (indicating a particular form of breast cancer) can indicate the use of Herceptin for a patient, greatly increasing the effectiveness of treatment.
Testing is underway to evaluate the efficacy of pharmacogenomics, which is the use of personal gene-based information to determine the proper drug and dosage for an individual. This effort recognizes how much more effective medical care could be, and how much more value we could achieve, if the drugs prescribed for us were the ones known to work for us, or for the subtype of disease being treated. An often-cited example is warfarin. This anticoagulant is one of our most-prescribed pharmaceuticals, but it can be accompanied by significant risks. At the present, adverse events related to warfarin are a leading cause of drug-related hospitalizations and deaths. If genetic tests can improve initial dosing of warfarin, the savings in health and dollars will be substantial: one estimate is over $1 billion per year.
The Food and Drug Administration already collects genetic information on a voluntary basis regarding pharmaceuticals it approves for marketing. Since the inception of the Voluntary Genomic Submission program in 2004, genetic information has been shared with FDA on some 50 drugs. This resource should help build the knowledge base for pharmacogenomic-based prescribing.
And in a number of leading institutions, including those represented in this report, a structure of personalized health care is already being put in place. These sample case studies reflect a broad scope of approaches that are being tried, as well as new kinds of partnerships for achieving higher levels of effectiveness and personalization in health care.

In other ways, this new culture of personalized health is not at all as close as we would wish. For example, outside of major health care institutions, the adoption of health information technology and interoperable electronic health records has been painfully slow. Likewise, while the pace of discovery in science may be rapid, the development, validation and adoption of new molecular-based products and new informatics in day-to-day clinical practice will take many years or even decades.

In 2006, I launched a Personalized Health Care Initiative at HHS. The object was to help identify opportunities and coordinate activities in HHS agencies that could help accelerate a personalized health care future. Many strong efforts were already underway throughout the agencies of the Department. I saw the Initiative as an opportunity to help define the goals and build a foundation for the future that linked federal and private sector efforts.

The work of the Initiative was especially directed at preparing electronic health records to accommodate genetic test information and other elements important for personalized health care. Standards for exchanging genetic test results and embedding them in EHRs were published in 2008 and should be finalized in 2009, clearing the way for these elements to become a standard feature of EHR products in the future. Standards were also developed for EHR products to support the capture and exchange of family health history information, including development for the first time of a minimum core data set for these histories. This work will become the basis of a new, interoperable version of the Surgeon General’s “My Family Health Portrait” web tool.

Other IT-related efforts carried out under the Initiative have included: recommendations concerning the confidentiality, privacy and security of genetic information in an EHR environment; development of harmonized and interoperable newborn screening information for embedding into EHRs and for public health research; recommendations for standards in pharmacogenomics, both to assist in research on drug safety and effectiveness, and for use in decision support tools in EHRs; and in collaboration with the Agency for Healthcare Research and Quality, development of clinical decision support tools to be used with EHRs.

The Initiative also inventoried some 50 programmatic activities within HHS agencies and documented them in a 2007 report, Personalized Health Care: Opportunities, Pathways, Resources. In addition, the Initiative commissioned a white paper regarding coverage and reimbursement issues for molecular diagnostics. It also sponsored a workshop examining new direct-to-consumer genetic information services, which began to be marketed via the Internet in late 2007.

The Initiative has been a first effort at leveraging and coordinating Department-wide activities in personalized health care. Outside the Initiative, many significant events took place: in particular, the cascade of discovery supported by the National Institutes of Health identifying newly-found associations between genetics and complex diseases; and enactment of the Genetic Information Non-discrimination Act (GINA) in May 2008. The progress in these two areas constituted significant twin milestones for genomic medicine and personalized health care. They mark both the speed with which science is providing new information and the resolution of Congress and the Administration to ensure that personal genetic information will not be misused as it enters into medical practice.

Also during this period, a pilot program supported by the Centers for Disease Control and Prevention, the Evaluation of Genomic Applications in Practice and Prevention (EGAPP), issued its first recommendations regarding the clinical usefulness of existing diagnostics. This pilot program is demonstrating a process for systematic review of clinical utility for genetic tests.

The efforts of these two years are an opening chapter – a “prologue” to a future of personalized health care. Hopefully, we have chosen productive areas in which to begin building foundations for that future. Looking forward, the period of foundation building is by no means complete. An important benchmark in the coming years will be the ability to integrate the ongoing rush of scientific discovery while simultaneously building capacities to support adoption of discoveries into everyday medical practice. Even as we balance those activities, we must continue to address the ethical, legal, social and educational issues, especially pertaining to personal genetic information. These will be an important part of the core of trust that practitioners and consumers alike will need to feel as genetic information becomes available and useful.

Perhaps most important: the advent of personalized health care cannot take place, and should hardly even be thought about, outside the context of the present crisis in health care financing and delivery. “Crisis” is by no means too strong a word for the current condition of our health care delivery sector. Within my lifetime, overall health care costs have grown from 4 percent of gross domestic product in 1951 to 16 percent today, and headed to 20 percent by 2016. This trend is not sustainable.

Of course, it is true that medical care today is much more powerful than it was in the 1950s. It is also true that the United States has led the way in forging medical progress. But at the same time, our health care spending per person is on the order of twice that of other nations whose health status is equal to or better than ours. And despite this level of spending, which is more than the total gross domestic products of all but a few nations, some 45 million Americans are without health coverage. How has this happened?

An important element of the problem lies with the outdated system of reimbursement that is enshrined in the Medicare program. Medicare is far and away our largest health care payor, and its systems are used as a model for most of the rest of our health care delivery sector.

Unfortunately, the payment approach that Medicare has enshrined is based on piecemeal payment for services, where reimbursement is only tangentially related to quality, and almost entirely unrelated to the patient outcomes. As such, Medicare is a government-run, price fixing system where payment is based on volume rather than value. It has few mechanisms for supporting preventive health care or sharing the value realized when an expensive procedure or health condition is avoided. And to make the storm perfect, Medicare is an open-ended entitlement program without the discipline of a global budget.

With the Medicare model serving as our central paradigm for health care payment, we have a system that engenders “silo syndrome” – that is, there is little coordination among caregivers; a system whose main incentive is the “chronic more” – that is, the incentives reward more care, rather than better care; and a system where payments are indifferent to quality – that is, we pay the same for poor quality as we do for excellent quality. We rely on our practitioners to deliver the best care they can, but we reward them financially only for volume. There is virtually no financial reward provided to them for getting a diagnosis and treatment right on the first encounter, or for spotting disease early and avoiding costly procedures, or for helping patients understand their personal long-term health risks or supporting actions that may preserve good health.

Proposals for health care reform are often focused on problems of cost or access to insurance and care. But in fact, to be successful, reform needs to focus on the intertwined complex of three factors: affordability, accessibility and value. We will not achieve affordability and improved access without building value into our health care system. By that I mean medically effective care at a cost-effective price.

To achieve these goals in a sector as large and tangled as health care, we need to start by asking: What can empower all those who are caught in this web to move in a common direction toward the results we want? During my term as HHS Secretary, I have focused on constructing a consensus-based foundation anchored on four “cornerstones:”

The first cornerstone must be quality standards. If the object is to achieve high value for our health care dollars, then we must be able to measure the quality of the care – either in terms of recognized standards of practice, or in terms of outcome for the patient, or both. This is not about “cookie-cutter” medicine. It is about a consensus process for learning and applying what works, based on scientific evidence. Quality measurement will support quality comparison – and carried out properly, it will lead to continual improvement in care.

The second cornerstone is cost comparison. With standards for quality in place, we will be enabled for the first time to make cost comparisons in health care as we do in other markets. We will not be confined to looking only at the dollar amounts, but at the quality and value we are purchasing in combination with the price. Intelligent cost comparison will call on us to use devices like single prices for medical procedures, instead of piecemeal charging for each part of the procedure. It will also challenge us to assess and pay for the true long-term value of preventive care.

The third cornerstone is interoperable health information technology. Our health information base needs to be vastly better than at present. This includes information at the most fundamental level – the patient health record – as well as our processes for gathering and understanding data, and our ability to share information among providers and others in order to improve care.

The fourth cornerstone is incentives to reward the results we want – namely, good care and good health. Our payment systems need to identify and reward the delivery of high quality care in a cost-effective manner: value.

These four cornerstones are key enablers of change and improvement in health care. They drive positive change because they enable stakeholders throughout the health care sector to seek their own advantage by seeking value. As such, I believe they are the underlying keys to health care reform. I also believe personalized health care is an important element at the heart of these enabling factors:

The development of quality standards is inherent in personalized care. “Personalizing” care means knowing what works, knowing why it works, knowing who it works for, and applying that knowledge for patients. Approaching health care in this manner is virtually synonymous with the application of quality standards. As a further bonus, the drive to differentiate care at increasingly well-defined sub-populations could help ensure that standards of care will not stagnate.
Personalized health care also points toward a promising new dimension of cost comparison and cost saving. By using new diagnostic tools to help identify the most effective treatment options for a patient, personalized health care promises to help avoid ineffective treatments and the associated costs. In addition, new knowledge about associations between molecular factors and health conditions should help identify disease early and point toward effective prevention. It should be possible to identify the point at which a given product or service becomes cost-effective by avoiding ineffective treatments or costly future procedures, or by preventing disease.
The development of new data capabilities, based on interoperable health information technology, is also integral to personalized health care. Increasing differentiation of care will require a new scope in our knowledge base and new kinds of data networking. It will require the ability to aggregate very large volumes of data, through interoperable health information technology – as well as new informatics tools to achieve rapid analysis of the data and propel further research.

Thus, personalized health care should be an explicit goal of health care reform. And the developers of products and services that personalize health care need to understand that their success depends on delivering results that serve the conjoined goals of affordability, accessibility and value.

As Secretary of Health and Human Services, I have had the privilege of taking new steps toward better health for Americans, and indeed toward improved global health. I built on the work of those who preceded me. Now I feel the importance of passing on to my successors what I have learned – a “note on the desk” that may be helpful to them

My note about personalized health care would start this way:

Personalizing health care is not a niche concern. Its promise is central to the future of health care. It gathers the newest and most promising scientific knowledge and directs it in a coherent way at the oldest and best intentions of medicine. It asks the right questions and applies the right tests as we seek a better health care system delivering better value and better health status for our citizens.

My note would go on to point toward four areas that I think are in play at this time of hand-off:

First, the base of interoperable health information technology is critical and remains far from complete. It is not merely a matter of electronic health records, but equally the capacity to exchange information securely. This is crucial for practitioners as the elements of care become more complex, and it is crucial for research and medical progress. Consensus-based standards are at the heart of this effort.

Second, as data accumulates ever-more rapidly and the demand for standards increases, we will need to focus on the question of what constitutes actionable medical evidence. It will become increasingly important to have defined standards of evidence that will satisfy doctors and patients as they make health decisions, and that will be useful for regulatory and reimbursement purposes.

Third, personalized health care will require new business models and reimbursement approaches. Our health care system is tilted strongly toward post-symptomatic treatment and volume-driven payment. But with personalized health care, we hope to detect disease earlier and prevent it more effectively. We will need to learn to quantify that value and reward it appropriately.

Fourth, personalized health care is about developing new kinds of information and services – but it must equally be about using that information properly. Physicians and other health care professionals need to be engaged in the process of change. And consumers will need a growing information and education base.

I would conclude my note with two thoughts about the role of government in particular:

First would be the importance of building “translation” into the scientific enterprise. Government, and HHS in particular, has a primary role in supporting scientific discovery. We need to work closely with the medical community to improve the translation of proven techniques “from bench to bedside.”

Second, I would call attention to the potential for closer alignment of the work of the FDA and the Centers for Medicare & Medicaid Services. In particular this pertains to the issue of standards of evidence, especially for products and services that reduce costs in the future by identifying disease earlier or enabling effective prevention. Such tools would represent a new paradigm in medical care, and they may require new ways of assessing and rewarding for the value of costs that are avoided. The different missions and capabilities of FDA and CMS will both be needed to usher in these tools, and I believe a new kind of collaboration between them could be important for progress.

One important question remains: How long? When may the promise of personalized health care be realized?

I see it as the work of a generation. It is already a national goal to achieve secure, interoperable electronic health records for most Americans in five years. My hope is that in ten years, it will be the norm for consumers and practitioners to anticipate that treatments should be individually targeted, with diagnostics and therapies commonly associated as a paired unit. Within 15 years, I hope that major clinical data sources can be securely linked in a manner that gives most Americans the option of allowing their own de-identified health information to be employed in the quest for ever-more individualized understanding of health and disease. And within 20 years, I hope that data and informatics will have advanced to the point of supporting meaningful individual prediction regarding an individual’s life-long health prospects, including specific, proven steps that he or she can take to protect and enhance health.

Personalized health information, based on individual biology, yielding increasingly precise and predictive health care: these are the goals of personalized health care. Progress toward them will no doubt seem slower than we wish. But over time, I believe personalized health care will be even more transformative than we can imagine.

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