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The pursuit of precision medicine is an inherently collaborative effort, requiring access to large data sets and to diverse technologies and expertise. One of the major goals of the California Initiative to Advance Precision Medicine is to foster such collaborations by supporting demonstration projects that leverage the State's expansive and diverse research and clinical expertise and other resources from public and private partners, including high tech capabilities and patient engagement efforts.
Since fall 2015, CIAPM has been funding two groundbreaking demonstration projects that use state-of-the-art genomic analyses to better diagnose children with cancer and critically ill patients with infectious disease, respectively.
In fall of 2016, CIAPM is launching an additional six demonstration projects that use mobile technology, cutting edge sequencing technology, integration of diverse data, advance image analysis and patient/ physician support tools to advance precision medicine in California.
CIAPM's portfolio of demonstration projects comprises broad collaborative efforts across institutions and sectors. The activities range from discovery to clinical implementation, aiming to enable more precise, individually targeted prevention, diagnosis and treatment of disease, and to illustrate that precision medicine is making a difference now.
Mobile or mhealth is giving patients more ways to manage their illnesses. Instead of just going to the doctor, they are using devices to monitor their symptoms and set individual health goals. But for this process to really benefit patients, these devices must integrate easily with patients' lives such that the contribution of data is consistent and trusted, and that both patients and clinicians gain value that improves personal health outcomes.
The challenge now, said Nick Anderson, PhD, associate professor of biomedical informatics at UC Davis, is to effectively extend the tools that people are already accustomed to using. His team is developing new and easy to adopt ways to engage patients in managing two common problems, high blood pressure and depression, using their mobile phones.
"The biggest problem in mobile health is you get a new health monitoring gadget, it's novel and entertaining, but in a month you tend to lose it, or lose interest," Anderson said. "You rarely get a full picture of your health, and any linkage to your clinical health history or personal goals. We want to enhance what patients are already commited to using, which is primarily their phones, and capture the patterns of their health as they live in their usual enviroments."
If the next generation of personal health applications are designed to support health wherever and whenever patients use them in their normal lives, Anderson said, they are more likely to succeed.
"We want to focus on the actual lived experience of the patients in the world," he said. "We want to reach people who are not now being reached by making health management capabilities easily available to them through their own mobile health devices and based on their unique and individual concerns." Learn More»
Patients with prostate cancer can face agonizing choices about treatments that may involve significant side effects. Often doctors must counsel them without adequate data to explain the likelihood that a given therapy will succeed. Sheldon Greenfield, MD, executive co-director of Health Policy Research Institute at the UC Irvine School of Medicine, is developing ways to predict which therapy will work best for a patient, given how far his disease has progressed and his tolerance for side effects.
This brings together how well treatments work in different groups, based on socioeconomic, health status and other types of data, with a genetic test to predict how likely it is that a patient’s cancer will spread after surgery. That way patients can make more informed decisions.
“Right now the evidence supports treatment decisions for the average patient,” Greenfield said. “This study will give doctors much better data on which to base recommendations for individual patients.”
He said patients will also be armed with more information. “Let’s say a person has heart disease, diabetes, arthritis and is older. He may say, ‘I don’t care about mortality. I care more about certain quality of life issues.”
The team also wants to help patients overcome the professional biases that different specialists have when they counsel patients about treatment options. "Doctors sometimes don't explain things even if they know them," Greenfield said." We want to help the patient decide whether to choose surgery, radiaton, or active surveillance. This brings more information for them to digest and bring to their doctor." Learn More>>
Parents of children born with genetic diseases often spend years trying to find out the causes of their children’s illnesses, and sometimes they never do. Developments in genetics may soon help researchers provide answers that can lead to effective therapies.
Currently, only 2,000 of the 20,000 genes in a person’s genome are useful in making a diagnosis. But more and more genetic data is becoming available, and researchers believe that by gathering, analyzing and sharing it with other scientists, they can speed the process of getting answers for parents.
"There are a few genetic disorders that we understand, like cystic fibrosis, but they are only a small subset of pediatric disorders,” said Dario Boffelli, PhD, a geneticist at Children’s Hospital Oakland Research Institute. “In many cases, there is no obvious gene. The doctor is faced with an open-ended search, testing genes one by one. This can be a prolonged odyssey that can become quite expensive, and, given our lack of knowledge of the genome, it can end with no result.”
Boffelli said his team, which is led by David Martin, MD, deputy director of CHORI, will develop ways to find mutations that cause inherited diseases, working toward the day when there is a complete catalogue of disease-causing mutations that doctors can search to understand a child’s illness.
"At the very least, we can provide a closure to the child and their parents,” Boffelli said. “Because without the diagnosis, they don’t know what they have, and they keep trying to find out.” Learn More>>
When a patient has a neurological emergency, doctors need to see inside the brain with imaging equipment, like CT scanners, to find out what the problem is. Otherwise they will not know how to intervene to save fragile brain tissue, which can die within minutes of a catastrophic event such as a stroke, aneurysm rupture, or traumatic brain injury.
Pratik Mukherjee, MD, PhD, and Esther Yuh, MD, PhD, professors of Radiology and Biomedical Imaging at UCSF, are trying to make imaging machines smarter, so they can detect emergencies and triage patients for immediate treatment.
“The idea is to accelerate the detection of emergency features on CT scans of the head, so that critical decisions about patient care can be made more rapidly,” Mukherjee said. “These are life and death decisions where minutes count. Anything that accelerates this is crucial and can save lives and reduce long-term disability from these disorders.”
Initially, the technology will be used in research, allowing imaging to be more easily incorporated into large-scale studies that determine how to provide the best treatment and care to those who experience a neurological emergency. Since it is cloud-based, it could be used as readily by a physician or researcher in San Francisco as elsewhere in the world. Learn More>>
What if doctors could predict when someone was likely to have a heart attack or a stroke? Might they be able to intervene more effectively to prevent damage to heart muscle and brain tissue?
That is the objective of a team lead by Brennan Spiegel, MD, director of Health Services Research for Cedars-Sinai Health System, which is using remote monitoring to engage people where they live, work and play, instead of waiting for them to get so sick they need to come into the emergency department.
"People die of heart attacks and strokes, despite all of the medications, treatments and science we’ve evolved,” Spiegel said. “And one of the reasons it happens is we are not able to monitor them closely enough to know when to really engage our patients.”
The team will use sensors to measure activity, sleep, heart rate and stress levels, as well as self-reports and finger prick blood samples from patients to achieve a fuller picture of how they are doing day to day.
“We know that something like a heart attack has many determinants, not all of them biological,” Spiegel said. “Stress, anxiety, depression and poor sleep are all strong predictors of cardiovascular disease. How much exercise they get and how well they are functioning in the world can also predict a heart attack.” Learn More>>
Multiple sclerosis can progress rapidly, affecting the brain, spinal cord and many different organs. Effective therapies are now available to slow this progression. Often, doctors who see MS patients are not aware of these therapies, much less whether their patients are likely to benefit from them. The Research & Development team from Sutter Health is building a software application that takes the best in clinical care from UCSF’s MS specialists and makes it available to a wider audience of doctors. At a glance, doctors will be able to see if and how fast their patients are progressing and whether they are responding to therapy. With state-of-the-art treatment, UCSF MS specialists have shown they can improve patient outcomes.
For example, doctors have reduced the percentage of patients who need to use a walking cane from 50 to 10 percent. But for this approach to become more widely available, doctors will need easy-to-use-tools to track patient outcomes, from tiny changes in serial MRIs to changes in a diversity of symptoms. Giving doctors a more complete and precise picture of the patient experience will improve care for complex conditions like MS that require up-to-date specialized knowledge to really help patients.
“If the information is at their fingertips, doctors won’t have to spend time searching through the electronic health record and guidelines,” said Walter “Buzz” Stewart, PhD, MPH, Vice President and Chief Research Officer for Sutter Health. “Doctors and patients can devote more of their precious time together deciding on the best care.” Learn More>>
Each year 500 California children with cancer either lack or do not respond to standard therapies and succumb to their disease. The California Kids Cancer Comparison (CKCC) project seeks to find new effective treatments for these children by comparing the molecular defects in their tumors to those in many other tumors. Such a large scale computational approach leads to a better understanding of what has gone wrong in each tumor and enables clinicians to choose drugs and treatments that target those defects. This more targeted approach significantly increases the chances of fighting the cancer. To ensure this sophisticated precision medicine approach can be implemented in an efficient and safe way, CKCC will employ a web-based tool that allows patients, advocates, clinicians and researchers to communicate data and other information while protecting patient privacy. Learn more »
When the agents responsible for infectious diseases that threaten the lives of critically ill, hospitalized patients cannot be determined using conventional methods, the chosen treatments may be ineffective, leading to an increased number of deaths and excess healthcare costs. Chiu and his colleagues have developed a way to rapidly and accurately identify virtually any infectious agent in these patients using the powerful technology of next-generation sequencing. Once the causal agent is identified, treatments can be targeted, dramatically increasing the chance of the patient’s recovery. The PDAID project will validate this innovative laboratory test at three University of California medical centers, with the ultimate goal of making the test widely available. A multi-disciplinary precision medicine consult team will interpret results, guide treatment and communicate with patients. Learn more »