Precision health is medicine's next big thing, promising to revolutionize everything from the diagnosis of cancer to treatments for depression.
Consider this scenario: At your annual physical, your internist notices that your blood pressure is elevated. Based on this reading and a few questions about your medical history, she diagnoses you with hypertension and prescribes a medication, one that she says works for about a quarter of patients. Give it a try, she says, and check back in a couple of months.
Now, imagine another scenerio: Even before your visit, the doctor knows about your hypertension because a mobile device that monitors your blood pressure has securely transmitted that information to a central database. The doctor also has instant access to detailed information not only about you, but also a wealth of privacy-protected material about millions of other patients — genetic information, demographic details, data about lifestyle and diet. She quickly identifies a few hundred patients whose profiles look a lot like yours and analyzes how various hypertension medications have worked for them. Based on that detailed information, she prescribes a medication and dosage that's almost certain to work for you.
The second story is the vision of precision health, a revolutionary, comprehensive approach that stands to transform health care. Thanks to giant leaps in information technology and unprecedented access to details about people's genetic makeup, it promises to touch nearly every aspect of how health care professionals treat, monitor and communicate with patients and how people interact with doctors and other health care workers.
“It really is the dawn of a new form of medicine,” says Daniel H. Geschwind, MD (RES '95, FEL '97), Gordon and Virginia MacDonald Distinguished Chair in Neurology, Psychiatry and Human Genetics and director of the new UCLA Institute for Precision Health, which is spearheading the campus-wide effort. “Instead of treating people as the average, we'll be able to individualize therapy for you.”
Besides providing more exact and personal ways to treat illness, precision health will enable medical professionals to pinpoint the precise underlying causes of a wide range of conditions — from lung cancer to depression to heart disease. It also has the potential to help doctors accurately predict everything from whether or not a particular patient is likely to experience post-surgical complications to which people with obesity are at highest risk for developing diabetes.
“This transformation will be larger than any other in modern medicine,” says Steven M. Dubinett, MD (RES '84), associate vice chancellor for research and director of UCLA's Jonsson Comprehensive Cancer Center Lung Cancer Research Program. “We'll be able to concentrate much more on prevention and prediction based on an individual's needs as opposed to being reactive and waiting for someone to present to us with advanced stages of a disease.”
THESE POTENTIAL BENEFITS HAVE EMERGED, thanks to two significant breakthroughs over the past decade that would have been unimaginable a generation ago. The first is a leap in the capacity to collect, store and access large amounts of medical data. The emergence of electronic health records has meant that health care professionals now have access to huge, searchable data warehouses of information on millions of patients. To ensure the safety and confidentiality of that information, some of it is de-identified — that is, it is coded in such a way that researchers know the genetic and demographic profile of the patient but not the actual identity.
The second factor is a revolution in gathering genomic information — that is, details about a particular person's genetic makeup. When scientists first mapped the human genome, a project that finished in 2003, it cost $2.7 billion and took 13 years. Now, mapping a genome costs around $1,000 and takes a day or two.
In this world of big data, precision health represents the intersection of genomic medicine and bioinformatics, enabling scientists and physicians to understand the individual in the context of the broader population. “Precision health has emerged as a new way of taking all that information and understanding how to leverage it to customize medicine so that it really is targeted toward a specific individual,” notes Kelsey C. Martin, MD, PhD, dean of the David Geffen School of Medicine at UCLA and co-chair of California Gov. Jerry Brown's state-wide Advisory Committee on Precision Medicine.
The new approach also will incorporate mobile technology and wearable devices that researchers are developing to monitor everything from what we eat and how we are breathing to sleep and mood, routinely communicating that data to health care providers. A recovering stroke patient, for example, might go home with wrist and ankle bracelets equipped with accelerometers that measure body movement. If the devices detect a significant change in gait over time, doctors would know to bring in the patient for an examination.
“Maintaining health is not abstract; it is every day,” notes Alexander Hoffmann, PhD, Thomas A. Asher Professor of Microbiology and director of UCLA's Institute for Quantitative and Computational Biosciences. “When we feel run-down, we go to bed extra early. If we have a sore ankle, we stop exercising and start icing. Precision health is the same, except with the benefit of objective indicators like molecules that can be measured in blood or urine or physiological indicators from wristbands, etc. If such data are available, health may be monitored, and adjustments to lifestyle or medications can be made immediately.”
Scientists at UCLA are among those inventing such wearable devices. Dr. Dubinett says one UCLA group is developing a pendant that will measure heart pressure to monitor patients who leave the hospital after experiencing congestive heart failure. Alex Bui, PhD, professor in the Department of Radiological Sciences and a member of the UCLA Medical Informatics Group, is developing smartphone technology to monitor childhood asthma, even collecting information on air quality in order to alert parents and physicians of a potential breathing difficulty.
“These things might sound surprising now,” Dr. Dubinett says, “but they will become part of what we do in medicine to reach outward and prevent events and diseases rather than reacting to them.”
Those sorts of far-reaching efforts already were well underway at UCLA when President Barack Obama hailed precision medicine in his 2015 State of the Union address, later citing its potential for “delivering the right treatments, at the right time, every time, to the right person.”
UCLA has opted for the term “precision health,” Dr. Geschwind says, because the effort extends beyond medical care, encompassing an entire approach to improving quality of life, optimizing health and preventing disease. Part of what drew Dr. Geschwind to the project was his experience as director of UCLA's Center for Autism Research, where he spent nearly two decades investigating the genetic roots of the neurological disorder. Autism, he found, is not one condition; rather, it is a collection of rare disorders, each caused by different genetic mutations. Recent leaps in understanding genetics are helping researchers to tease apart autism and differentiate individual cases.
That work gave him the ideal background to take on precision health, harnessing the power of genomics and big data he had brought to autism but on a much larger stage. “I'm very interested in improving health care broadly,” Dr. Geschwind says. “This is one way that we can have a big impact across a lot of disciplines.”
Among the most promising arenas is treatment of cancer. As Dr. Martin explains, a woman's physician might diagnose her with breast cancer based on a mammogram, but there are many types of breast cancer, each caused by a different cellular mutation. Precision health offers the potential to identify individual cancers with specificity and then to use big data to identify which therapies will be most effective based on how others with similar genetic and demographic profiles have responded.
“Until relatively recently, many patients with lung cancer were treated the same way,” notes Dr. Dubinett. “Now we're beginning to understand that different mutational events within tumors dictate different types of therapies.”
That specificity can cut across virtually all areas of medical specialization. For gastroenterologist Eric Esrailian, MD (FEL '06), Lincy Foundation Chair in Clinical Gastroenterology, co-chief of the Vatche & Tamar Manoukian Division of Digestive Diseases and director of the Melvin & Bren Simon Digestive Diseases Center, precision health represents the further breaking down of barriers between disciplines. That, he says, “will enable us to personalize care for the unique variables in the lives of our patients. Rather than utlizing a one-size-fits-all approach to treat disease or to make lifestyle recommendations to a patient, we will be able to be much more specific and effective because of the technology and knowledge that will be at our fingertips.”
ONE SIGNIFICANT UCLA UNDERTAKING THAT'S ALREADY HARNESSING THE POTENTIAL OF PRECISION HEALTH is the Depression Grand Challenge, a comprehensive, campus-wide effort with the ambitious goal of reducing the occurrence of depression worldwide 50 percent by the year 2050. It already has launched its first step, aiming to track 100,000 people who encounter UCLA's health system and tracking the course of their depression over a decade or longer.
Nelson Freimer, MD, director of the Center for Neurobehavioral Genetics in the Jane and Terry Semel Institute for Neuroscience and Human Behavior at UCLA, heads the project. He says it will require a significant infrastructure, using online tools for screening and diagnosis and access to electronic health records to track symptoms and therapies. “We want to be able to understand the cause of depression by doing things like genomic sequencing,” he says, “and we want to identify biomarkers that enable us to predict why a treatment will work for one person but not another.”
The depression research also will incorporate emerging mobile technology to track symptoms without burdening the person who is being assessed. Researchers know, for instance, that when people become less physically active, they are more prone to depression. Dr. Freimer and colleagues already are testing a smartphone app that would continuously measure activity levels and factors like tone of voice to assess depression levels and the impact of physical activity.
“This kind of tracking is going to revolutionize our ability to tell how people are doing with a degree of precision that we never have had before,” Dr. Freimer says. That, combined with the unprecedented capacity to gather and assess genetic information, will enable health care professionals to prescribe specific therapies and medications, eliminating the trial-and-error process, which can add to the burden on those struggling with depression. “If we can predict in advance who's going to respond to which treatment, we can short circuit a lot of misery,” Dr. Freimer says.
Another way precision health stands to alleviate suffering is by significantly reducing how long it takes to reach an accurate diagnosis. When young children display behaviors and other symptoms that can't be easily connected to a particular disorder, families often undergo what doctors term a “diagnostic odyssey,” a protracted search to pinpoint the child's disorder.
Besides causing stress and anxiety in children and their parents, such a protracted search can also cost the family and the health care system tens of thousands of dollars, or more. Now, using exome sequencing — analyzing about 5 percent of the genome — scientists can identify a diagnosis in about one-third of cases, a figure that is continually rising, Dr. Geschwind says. “The hope is that as we identify the mutational basis of these disorders, it will lead to much more effective targeted therapies, just as we have seen in cancer.”
While such breakthroughs will benefit large numbers of patients and their families, the advent of precision health also will bring about significant changes in the ways people interact with their health care providers. Instead of giving information and laboratory samples only for their own benefit, patients will be routinely sharing anonymized data of all sorts — through mobile devices and other technology, as well as via lab results — to advance the health of the larger population.
As Dr. Martin puts it, “The patient is becoming a participant in the whole process of trying to understand human biology and health and disease.”
TO THAT END, RESEARCH WILL MORE DIRECTLY BECOME PART OF HEALTH CARE. “Instead of health care and research being separate, we envision a learning health care system — learning for the patients and learning for the physicians to optimize patients' quality of life and outcomes,” Dr. Geschwind says. That process already is underway. Through a program called the UCLA AtLAs California Health Initiative, UCLA's health system is endeavoring to collect laboratory results — blood, saliva and tissue specimens — from a sample of some 100,000 patients as a pilot for a more comprehensive “biobank” that eventually will store such information from every patient who offers consent. The samples will provide a repository of DNA, proteins or mRNAs useful to answer diagnostic or treatment questions.
Dr. Geschwind says it is a high priority to educate the larger community and fully disclose to patients how researchers might collect and use their information. The project's team has created a four-and-a-half-minute video, in English and Spanish, explaining to potential patients how sharing their information will produce benefits on a larger scale. “It's a partnership with the community, and by participating, you're helping your neighbor,” he says. “We're all part of a village, and by participating, patients are helping us to understand them as individuals within the context of the whole population.”
Not that sharing personal information is a novel concept. Anyone who shops online has had the experience of searching for, say, a mattress or running shoes and then being inundated afterward with banner ads pushing those same products. “Information is being collected from all of us all the time and used for purposes that are not necessarily helpful to the individual,” Dr. Freimer says. “In this case, with AtLAs, there's a potential direct benefit both to you and the larger community.”
Another significant challenge that precision health poses is figuring out just how to collect and store such large quantities of information in ways that make it accessible and useful to a wide range of health care professionals. That task falls to Michael Pfeffer, MD (RES '07), chief information officer for UCLA Health, who is heading up a team of experts — database architects, systems engineers, physician informaticists and others — charged with creating the engine that will drive precision health.
As he explains it, the project he heads has two significant phases. The first is creating a system for gathering information — imaging data, genomic data, environmental data — from patients and devising algorithms to enable researchers to access the information. The second phase calls for devising ways to incorporate that information back into the electronic health record to be used in clinical care, the process of caring for patients. “People go into health IT because they love the combination of technology and improving patients' lives,” Dr. Pfeffer says. “We're all thrilled to be part of this.”
The challenge sounds daunting, but “given that technology always is changing, we are building infrastructure that is flexible and scalable so that we don't have to reinvent the wheel when something better comes along,” notes Clara M. Lajonchere, PhD, deputy director of the UCLA Institute for Precision Health. “Investing in strong partnerships both at UCLA and with industry leaders will allow us to become a leader in this field.”
Acknowledging both the difficulty and the importance of that work to the future of health care, UCLA has devoted resources and energies in many ways. In addition to launching the precision-health institute, it has supported Dr. Dubinett's Clinical Translational Science Institute — focused on turning research into clinical treatments — and created an Institute for Quantitative and Computational Biosciences.
“UCLA is very strongly behind fostering the elements and the infrastructure necessary for world leadership in this domain,” Dr. Dubinett says.
THAT'S NOT JUST SPECULATIVE TALK ABOUT THE FUTURE. The university already is uniquely poised to take on precision health in ways almost no other institution can. For an effort that will require experts from disparate disciplines to work together, UCLA has the advantage of fostering that kind of collaboration.
“For precision health to be successful, it requires collaboration across many disciplines, ranging from basic science, genetics and genomics to engineering and clinical medicine,” Dr. Lajonchere says. The institute “serves as a hub to bring all these disciplines together to move the needle.”
There also is UCLA's location in the midst of the nation's most ethnically diverse county. That offers great advantage to projects like Dr. Freimer's, which aims in part to pinpoint genetic factors in depression. Having a potential patient population of millions from a wide range of backgrounds makes UCLA fertile ground to examine both individuals and populations in ways that can be done almost nowhere else.
For example, by examining the differences in men's health and women's health, as well as disparities among age groups and ethnicities, Dr. Martin says, “we can make sure that precision health is used in a way that will overcome disparities rather than deepen them.”
UCLA also benefits from being part of the University of California system, giving it access to a patient data warehouse shared among five medical centers statewide. Gov. Brown, with his advisory panel, has made precision health a priority. The state's California Initiative to Advance Precision Medicine funds team-based projects that bring together academic institutions, industry and other health care providers looking to the future.
With that kind of far-reaching support, precision health clearly is the way of the future. But with the focus on big data and the wonders of genomics, might health care providers lose sight of the kinds of personal attention that can be so critical to patient care?
“The art of medicine — kindness, altruism and all of the other elements that make up a doctor's bedside manner — will remain important,” says Dr. Esrailian. “Utilizing the approach of precision health is not mutually exclusive with our being caring physicians and health care providers. We need to do both.”
Ultimately, says Dr. Pfeffer, UCLA's chief information officer, who also sees patients as a hospitalist at Ronald Reagan UCLA Medical Center, precision health will offer clinicians a broader and more diverse set of tools to help them make more targeted and informed decisions about patient care. “If I know up front, based on your genomic and environmental profile, what is the best medication to start you on, I will spend less time changing medications and more time talking to you about other important health topics,” he says.
Making such a wealth of information available literally at the clinician's fingertips clearly positions precision health as the next big thing to elevate medicine to new heights. “Instead of looking in the rearview mirror,” says Dr. Lajonchere, “let's look toward the future to prevent disease before it happens and improve health and wellness.”
Tom Fields-Meyer is a writer in Los Angeles and the author of Following Ezra: What One Father Learned About Gumby, Otters, Autism, and Love from His Extraordinary Son (New American Library, 2011).