California Initiative to Advance Precision Medicine Precision Medicine Primer

Today's Situation

When Jennifer received a multiple sclerosis (MS) diagnosis, she faced a hard choice: Should she start a disease-modifying drug right away to delay nerve damage, or wait until her symptoms got worse, since the drug would eventually lose its effectiveness? Jennifer's doctor suggested she start with the most common standard treatment. A month later, Jennifer switched drugs because of substantial side effects. The second therapy was more tolerable, but Jennifer's fatigue and mobility issues seemed to increase rapidly over the next year. Worsening depression and anxiety, combined with increased physical symptoms, led to more hospital and doctor visits, an inability to work, and a couple of additional prescriptions to manage her mental health. Jennifer finally switched to a third MS treatment option, which appeared to slow disease progression. Although Jennifer gradually adapted to managing her condition, circumstances sometimes took her by surprise, such as when a heat wave exacerbated her MS symptoms and sent her to the emergency room. While at the hospital, Jennifer experienced a dangerous drug interaction because her Electronic Health Record did not reflect the other drugs prescribed by her psychiatrist. After that episode, Jennifer realized she was better informed about her overall health than any of her individual healthcare providers. Unfortunately, only one member of her care team had an electronic patient portal, which reflected only part of her record and offered no way to correct outdated information.

Our Future

When imaging shows that Jennifer has MS, her health care provider orders a precision diagnostic test to identify exactly what subtype of MS Jennifer has. She has a subtype that will likely progress quickly, so her doctor suggests she starts a specific disease-modifying drug right away. Jennifer's genetic results show two therapies are likely to work well, but one is likely to cause severe side effects. Once she starts therapy, Jennifer's fatigue and mobility issues improve. She remains largely stable for the next three years. Although her symptoms don't worsen, a precision monitoring test detects an increase in disease activity. Jennifer and her care team decide to switch to a new, more targeted drug. Although her MS continues to progress, Jennifer can keep working (and avoid major mood disorders) for several years.

As a Californian, Jennifer has access to her unified California Patient Record. When she begins seeing a psychiatrist, Jennifer grants them access to view and update her record, and her new doctor can immediately see her complete health history and enter new medications. A regular digital reminder encourages Jennifer to update medications, health issues, or social history her providers might not know about. Jennifer's care providers also encourage her to use a wearable device and to log her good and bad days online. A disease management application alerts Jennifer to important correlations: her mood symptoms are better when she walks at least 5,000 steps a day, her mobility symptoms are worse when she gets less than 7 hours of sleep, and her fatigue and mental fog are much worse when the temperature exceeds 73 F. Based on sleep logs and the weather forecast, the application notifies Jennifer of days when she might want to manage her energy or environment.

Today's Situation

When Uday's doctor diagnosed them with a rare cancer, the doctor told Uday their best bet was to participate in a clinical trial. Uday wasn't certain what this meant. Would they get the real treatment? Was it safe? The trial clinic was a two-hour drive away. Having the costs of their care fully covered appealed to Uday, but the commute to the clinic would be expensive and time-consuming. Thinking it offered the best chance to get better, Uday eventually joined the trial. They faced a cumbersome enrollment process and burdensome protocols. Uday thought some of the check-ins could have been done over the phone or at their local lab, but the trial did not include these options. Even though Uday didn't know if they had received the trial therapy, their cancer responded so well that it seemed worth the hassle. But, Uday was dismayed to realize, when the trial was over a year later, they would not have ongoing access to the long-term maintenance drug, which was not yet approved for use outside of trials. Uday did not even know how the trial had gone: Would the drug be approved? How long would that take? What could be done in the meantime to stop the cancer from returning?

Our Future

When Uday first accesses their California Patient Record, the system asks them to confirm that their primary care physician, other members of the care team, and any emergency medical staff can access their records as needed for treatment. It also explains that their medical data can help researchers prevent and treat disease. The California Patient Record then walks them through a brief, clear consent process that explains the risks and some example uses, then asks which kinds of data they are willing to share, and whether they want to be notified when their data have been used in a study. After their cancer diagnosis, Uday gets notified about a study for a new treatment. The benefits and risks seem clear, and it looks like only a couple of office visits are needed. They go through the online consent process and enroll, then get the first study questionnaire, which can also be completed online. As the study progresses, Uday gets the occasional progress update from the researchers and study coordinator through their California Patient Record, so they feel like part of the team. They continue to do online check-ins. After office visits, Uday and their regular doctor can see the blood tests and scan results in their record. Although Uday does not know if they are in the placebo arm of the study, their cancer is moving toward remission. At the end of the study, Uday is informed that they were on the trial drug and is offered the chance to continue taking it, provided they continue to share data about their experiences. When the results are published, Uday gets a notice that includes a short summary of the study's findings, as well as a link to its publication, which they can read without having to pay for access to the journal in which it appeared.