Health leaders, legislators and technology innovators discussed the growing role that data analytics and precision medicine play in healthcare, cancer diagnosis and treatment and the implications going forward at an industry event in Washington, D.C. on Tuesday.
Hosted by Bloomberg Government and SAP Public Services, the event brought together leaders from the private and public sectors to discuss genomics, bioinformatics data, synchronization of electronic health records and patients’ privacy protection. During panel discussions, leading research institutions and hospitals also shared how they are approaching precision medicine.
President Barack Obama's Precision Medicine Initiative and Vice President Joe Biden's National Cancer Moonshot Initiative, announced in January 2015, were focal points of the event. Francis Collins, M.D., Director of the National Institutes of Health (NIH), discussed his agency’s Precision Medicine Initiative plans. The NIH plans to have 80,000 volunteers signed up for the initiative by the end of this year.
“They are not human subjects, they are participants. They will be partners and we will ask them to make available their electronic health records (EHRs) and information derived from those records and we will ask them to submit to a blood sample. And we might ask them to be involved in wearing sensors to keep track of their health,” Collins said.
He continued, “This is not the human genome project 2.0. We are collecting data about diet, exercise and environmental exposures. We’re collecting this data to see how it plays out and to move from where we are now, with a sort of one-size-fits-all, into a space where all of us would get better healthcare recommendations, personalized and precise. What this initiative aims to do is to set up the kind of large-scale, long-term study to get the evidence that we currently don’t have so we have the right answers to offer people.”
The agency also plans to select biobanks and allied health provider organizations by July, he said.
According to David Shulkin, M.D., Under Secretary for Health, Department of Veteran Affairs and the CEO of the Veterans Health Administration, the VA is supporting the precision medicine imitative through its Million Veteran Program, which aims to enroll its 500,000th volunteer this fall for the collection of DNA and health data. The program is on track to be the largest genomic cohort with a database that links genetic, military exposure, lifestyle and health information from its patients to help researchers learn more about the role of genes in health and disease.
According to health leaders, one key issue with regard to the precision medicine initiative that needs to be addressed is to consider what information individual participants want to receive as a result of the genomic sequencing.
“Some patients say they want their complete genome sequence, and other people will say, I don’t want to know. And then some people only want to hear about things that are actionable,” Shulkin said, using the Million Veteran Program as an example.
“At the VA, we have a clinical genomics service. This is such new science that not only do patients not understand it, the doctors weren’t taught this in medical school. So we have a staff of 80 full-time people who do nothing but consult through telemedicine. They have consultations with participants and ask them the questions that we are talking about, do you want to know this information? And they tell them that the information may be actionable or it may not be actionable.”
Euan Ashley, M.D., associate professor of medicine, genetics and pathology at Stanford University Medical Center and a cardiologist by training, said that in order for genomic sequencing to be valuable to clinicians, the technology needs to produce results rather rapidly in order to have an impact on patient care.
As an example, Ashley shared the story of a newborn delivered early by ceasarian section due to a low heart rate and it was discovered the infant had Long QT syndrome, a congenital disorder which was causing the infant to go into cardiac arrest. The care team attempted to improve the infant’s condition with various medications, but the therapies were unsuccessful. “Long QT is a genetic disease and it’s defined by its genes and if you know which gene, you can personalize the therapy. Typically, it costs $5,000 and takes two months to get results back. We took blood on Friday afternoon and got the data back on Monday and by Monday afternoon we had the answer. And then, we could start personalizing her therapy.”
“That’s an example of what precision medicine can do and the transformative nature of this technology. And I’m excited to be a small part of that,” he said.
However, while precision medicine is already enabling advances with rare types of cancer and rare genetic diseases, there has been less progress using it to solve more common diseases, such as diabetes.
According to Collins, common diseases are more complicated, as, for example, researchers have identified at least 82 genes linked to diabetes and each gene has a modest contribution to disease risk. “With precision medicine, it’s not just about genomics. It’s also about other issues related to health and disease, such as lifestyle, environmental exposures and we haven’t been able to collect all those, and it’s the information in the EHRs. It you want to understand health, you have to put all of these together, it’s the only way we’re really going to get those answers.”
“The themes of precision medicine are participant-centeredness and integration,” Ashley said, and he shared an example of the potential for data integration for more personalized medicine. Stanford Medicine worked with Apple on their first version of its ResearchKit for its MyHeartCounts study, a mobile app-powered cardiovascular study that collects data on patients through sensors in smartphones and watches. According to Ashley, MyHeartCounts has partnered with genomic and biotechnology startup 23andMe to share study participants' genetic data.
“It’s an exciting world where we are integrating patient-generated data with genomic data and EHRs. It’s a challenge and we have worked with SAP to integrate those different channels- data from EHRs, data from wearables and genetic data. There's no reason those shouldn't talk to each other,” he said.
Health leaders also addressed the challenges and opportunities of data sharing, a cornerstone of any precision medicine effort, with a focus on patient privacy and patient engagement issues.
“The digitization of healthcare is rapidly a reality, and as a clinician, when I see a patient, almost everything that I know about that patient is now digital. It’s an exciting time and we all want to harvest that and we see the potential, but doing so requires the patient’s participation. There are some important societal conversations going on right now about whether all of it [healthcare data] should be private,” Dawn Milliner, M.D., chief medical officer at Mayo Clinic, and Mayo Clinic's Director of the Office of Information and Knowledge Management.
“Most patients would err toward, ‘If I trust this doctor, then I want them to know things about me, so that information should be shared and shared freely.’ I think most patients don’t want silos,” said Vindell Washington, M.D., principal deputy national coordinator, Office of the National Coordinator for Health Information Technology (ONC), U.S. Department of Health and Human Services (HHS).
In speaking to providers, Washington said, “it’s becoming clear that the more provincial thinking is breaking down.” He pointed to the industry-wide pledge, announced in late February, in which health technology vendors, healthcare systems and leading stakeholder groups committed to improving the flow of health information.
“The response was overwhelming, including vendors and providers across the country who are interested and this says that people are ready for this next stage,” he said.
“It’s taken a long time, and it’s been laborious, but I think we’re on the threshold and I think the landscape is changing. It’s still a long, hard slough, though,” Milliner said. “There are number of problems to solve and one is the range of perceptions among patients about what they are comfortable with. Some patients want their data shared, and there are others who don’t want it shared. As a provider I have to respect that and we have to find a way to accommodate that range. We’re entering a new era, and it's exciting seeing patients who are truly becoming partners in this process.”
Looking ahead, Washington sees the potential for precision medicine to advance patient care.
“Medical breakthroughs usually take 15 years to become part of broad clinical practice. We’re finally at the cusp because it’s digitized, with breakthroughs and discoveries that could become standard practice much quicker. And there are possibilities with other aspects of care, such as social determinants of care that weren’t even possible before.”