It has been nearly 10 years since scientists affiliated with the Human Genome Project announced they had successfully sequenced a full genome. However, the breakthrough has made little impact on the health of individuals. Speakers at the Partners HealthCare Connected Health Symposium in Boston said new technologies and care delivery models may soon allow physicians to use genomic analysis to improve care, but systems are still far from offering the capabilities doctors need.
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We're still waiting for the magic bullets to hit from having the theoretical ability to target drugs.
Chris Kryder, M.D.,
One of the main hindrances to leveraging genomic data to personalize health care is the sheer volume of it. A single human genome may take up terabytes of data. Identifying the meaningful byte of information in this sea of data and applying it directly to a patient's care takes major computing power. This has held back the use of genomic data in health care.
Charlie Baker, entrepreneur in residence at General Catalyst Partners, said data analytic systems, such as the ones needed to analyze genomic data, are not being used in physician practices. While many people feel bringing this kind of functionality to more medical offices could be helpful, medical researchers and policymakers are the only ones who are actively engaging in data analytics.
"I think big data to most folks who are actually practicing medicine is a really interesting idea, but it's not something that in the short term is going to help them improve quality," Baker said.
Another thing holding back the use of genomic data in health care could be the manner in which physicians are trained to practice medicine. Chris Kryder, M.D., CEO of data analytics company D2Hawkeye, said physicians are trained to deal with a patient's chief complaint first. This means doctors typically aren't parsing a patient's genome to find the cause of their lower back pain, for example. Kryder said the health care system is not currently set up to make use of genomic data to personalize care.
"We're still waiting for the magic bullets to hit from having the theoretical ability to target drugs and so on," Kryder said.
At this point, most patients who have knowledge of their personal genetic risks have been benefactors to research, rather than beneficiaries, said Liz Boehm, patient experience collaborative director for ExperiaHealth. While there is wisdom to be gained from analyzing a genome for potential risks, the number of people who have received actionable information from having their genes analyzed is small.
Boehm said health care providers have yet to figure out exactly how genomic data should be used. Many health care providers expect that genomic analysis will transform care delivery, but they are still not sure of exactly how. Genomic analysis is still mainly a theoretical tool.
If these challenges can be overcome, getting more information from patients' genomes into the hands of physicians could play an important role in making population-level health data more actionable, said Joe Kvedar, a physician at Partners HealthCare Center for Connected Health.
Kvedar said there is a tremendous amount of data from clinical studies explaining the disease risks associated with specific genotypes. However, physicians need to consider an individual patient's lifestyle factors together with their genetic profile to determine that person's specific disease risk.
The possibility exists to move health care in this direction. Kvedar said smartphones could be used to monitor the activities of patients who have been identified as being at risk for chronic diseases, such as how often they stop at fast food restaurants. This could allow physicians to identify lifestyle factors that may amplify their patients' genetic risk.
Of course, this specific example raises privacy and security concerns, but doctors who treat patients at risk for chronic disease should think about ways to monitor their patients' lifestyles, Kvedar said.
"Chronic illness is about the choices we make," Kvedar said. "Imagine that we can apply this kind of tactic to each of us so that we know our risk ahead of time and maybe our health plan program would look something like this, where we know your motivational state, we know your connected health data, and we know your genetic risk."
To get to this point, researchers will need to develop a stronger understanding of how environmental factors interact with genetic risks to contribute to disease. Boehm said that knowledge in this area is lacking.
"How much of it is your parents, how much is the society around you? That's very powerful, but right now we just don't know," she said.