As precision medicine gains traction in clinical settings, and understanding among the general public, it's still often thought of primarily in terms of genetics and genomics. But it's so much more than that, says Michael Dulin, MD.
"Genomics is a key component, and something that's relatively new to helping us understand drivers or particular health outcomes," says Dulin, director of the Academy for Population Health Innovation at University of North Carolina, Charlotte.
"But I'm also a big believer in the social determinants model, which is that it's not just genetics, and it's certainly not just medical care delivery, but there are a lot of individual components around social determinants that drive those outcomes – things like your health behaviors, education, socioeconomic status."
For precision medicine to be most effective, all of those and more have to be brought into the equation, said Dulin, who will speak at the HIMSS Precision Medicine Summit in Washington, D.C., on May 18.
"I'm a primary care physician so sometimes I'm guilty of that myself – we get the blinders on and we think about health outcomes only being driven by what's in our purview," he said. "If you've only got a hammer, everything looks like a nail. So we only focus on the things that are easily under our control. But a lot of my work around precision medicine is to focus on how you do customize healthcare delivery using that full range of information across the board – including genetics."
Dulin points out that actual medical care delivery model probably influences at most 10 to 20 percent of health outcomes. Health systems looking to get a handle on high-risk populations have to think more broadly and look outside their walls at some of those key mechanisms.
"Think how do you make care delivery more interdisciplinary or transdisciplinary so it involves public health, social work, even environmental health and physical therapy," he said. "There are all kinds of different approaches to providing care that can be more holistic and comprehensive and can improve health outcomes."
Dulin has an interesting perspective on the nuances of precision medicine: he's not just a doctor, but also a patient. He has tested positive for a genetic variation that could lead to kidney cancer.
"The good news is there are some preventative measures I could take to alter the course of my genetic mutation," he said. "But it's been a really transformative thing for me. It's really hard as a provider to understand the impact precision medicine will have on patients, both positive and negative."
His experience has helped Dulin to think deeply about the many implications of genomics and the other dimensions of precision medicine – such as the emotional impact.
For instance, "sometimes genetic testing – particularly when you're testing on something that doesn't have a treatment – can lead to depression and cause worse outcomes in patients," he said.
"I think until I experienced it myself, I didn't understand how emotionally powerful it can be, both on the negative and positive sides."
When a patient learns they or a family member have a particular genetic mutation, especially one that could potentially be passed down to younger generations, there are lots of things to consider.
Not every physician is thinking along those lines yet, but as precision medicine becomes the standard of care, providers will have to be attuned to issues such as those.
As Dulin has spent recent years exploring the implications of this new era, personally and professionally, "one of the things that I think helped me was just the vast amount of information that I had to ingest," he said. "It helped me to understand that I couldn't do it alone. You have to work with a team. And health IT solutions and big data can really be something that augments the provider to allow us to do a better job considering things that are outside of our immediate vision."
"I'm extremely fortunate," he added, "both in using the genetic information to know what I could do differently, but also having the knowledge to know what it's like to be a provider without having that administration, and now one working in the space as a primary care doctor to help patients understand how it can be used in a positive manner."
Dulin says he's hopeful that his own learning experience can "help other providers have a deeper understanding of the true impact that precision medicine can have on their patients – and maybe how to mitigate the negative aspects and focus on the positive, preventative approaches where you can use precision medicine to improve health outcomes and improve quality of life."
Health systems and patients must expand their ways of thinking
In the meantime, however, there's still a lot to learn. "We're in this transition period, where we're starting to be able to understand what the genetic drivers are to some of these health outcomes, but we don't necessarily know what the treatments are, or how to address them other than prevention," said Dulin.
"Scientific findings about precision medicine are happening at a very rapid pace," he said. "But we have a long way to go in terms of figuring out what they mean, how we approach them, how we treat them."
He speaks from experience. "I've signed up for a clinical trial at NIH, so I get to see the scientists there working hard trying to understand how to reduce the impact of some of these mutations and how to do a better job with the prevention components – screening, treatment when needed and potential pharmaceutical management."
He hopes other patients who may have discovered they carry at-risk genetic markers will take a similarly proactive approach when possible.
"If you find out you have a genetic mutation and you think, 'Well I'm just built this way, so I'm going to give up and not do anything to try to make a difference with how those genes are expressed over time,' That would be the wrong way to go with this."
Even beyond the patient level, however, there are larger challenges ahead as precision medicine continue to find its footing across the industry, said Dulin.
"The other thing that worries me right now is that I think generally our medical model is broken. We've made some really great advances in science, but the medical model underlying that, particularly within the U.S. – with our lack of coordination of care and lack of integration of data and poor understanding of the social determinants of health, is kind of an underpinning.
"If we just layer precision medicine on top of a broken system, to some degree we could actually make things worse," he added. "But I'm very hopeful and optimistic that maybe what will happen is the opposite of that: that maybe as we figure out precision medicine, there will be some key disruptors to help us align the care delivery component so everything gets better together in time."
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