While precision medicine is still an emerging practice and technology, experts point to a few clear steps to get prepared for the future.
"I believe that the promise of precision medicine is real," said John Halamka, MD, chief information officer of Boston's Beth Israel Deaconess Medical Center. He predicts we'll be there "not in five years, but in one."
"I think that we are near critical mass in terms of awareness of precision medicine and recognition that it will be a part of the standard of care," said Don Rule, CEO of Translational Software.
"On the IT side, having a well thought out ontology to gather patient information is critical to being able to gain insight over time," said Don Rule, CEO of Translational Software.
"Whether it's community hospitals or academic medical centers, all of them just have a basic data problem right now," added Joel Diamond, MD, chief medical officer of 2bPrecise. "Start figuring out where the data sources are. Look for the multiple labs where oncologists are ordering their genetic tests, biopsies, somatic results from. Now that liquid biopsies are becoming more prominent there are multiple labs doing that, too.
"If it's stored in one system and not available somewhere else, shame on us," said Diamond. "We can't live in a world anymore where there's data that just exists in paper form and you can't do anything with it."
"Health systems need to understand the cost and complexity of the infrastructure necessary to support large clinical trials and registries," said Shaun Opie, chief science officer of Vantari Genetics.
"The chance of that woman not having a BRCA mutation is almost zero," he said. "And if she has that mutation and she has a daughter and a sister she has an upwards of 80 percent chance of having breast cancer and a 40 percent chance of having ovarian cancer."
"If a drug has a 30 percent chance of being hyper-metabolized and not being well-used by a given patient we should just know that and think about that as we prescribe drugs. That's an easy one, it's not hard, and we should be building it into continuing medical education," said Diamond.
"I look at my own journal, American Family Physician, and the CME I get from those articles, and it's very rare to see articles about genomics and precision medicine," he said. "We could start there. We can educate people about the American College of Medical Genetics and Genomics.
"The changes are happening so quickly," said India Hook-Barnard, associate director of precision medicine at University of California San Francisco. "I think the world is going to be a very different place in five years."
Suddenly we seem to be nearing a critical mass where precision medicine is no longer just a buzzword but is actually widely integrated into the way physicians deliver care.
"In my opinion, we've well gone over critical mass," said Joel Diamond, MD, co-founder and chief medical officer of Allscripts subsidiary 2bPrecise.
"I'll give you an example. I was seeing patients in my own practice a few days ago, and a young woman came in for a regular physical exam. She was a nurse. I asked her about pap smears, mammograms normal screenings.
The rise of consumer-focused genetic tests such as 23andMe is changing the ways patients communicate with their physicians. The tests could indicate genetic disposition for an array of conditions, and raise a bunch of potential medical questions – and not all of those are potentially actionable," said Diamond. Physicians will be asked for help interpreting these results for individuals as more people go with direct-to-consumer testing, said Jessica Langbaum, principal scientist at Banner Alzheimer's Institute. "They might not really understand what the report is telling them, or what it means for their biological relatives."
Since her mother and two aunts all died of breast cancer and another relative passed away from ovarian cancer, Diamond’s patient was naturally concerned about getting BRCA tested and a bit nervous. Knowing what we know today, it would be unconscionable for a physician to not counsel such a patient to undergo genetic testing, said Diamond.
"Precision medicine is about more than the genetics and the drugs," said Vik Bakhru, MD, chief operating officer at ConsejoSano, a Spanish-language patient engagement platform.\As much as 70 percent of a person's health is determined by socioeconomic or environmental factors, he said. But despite near-ubiquity of EHRs, that crucial information is still not often being logged to help guide care and treatment plans.
"The way the landscape is right now, 80 percent of studies fail to meet their recruitment goal and stated timeline because it's so hard to find eligible participants," said Langbaum. "There are big concerns out there that at the national level we need to address. We often hear that people would like to participate in a study but are fearful to do it because they can't risk losing their health insurance."
The challenge, however, is that such a test would not necessarily be prescribed by a physician who's not up-to-speed with the new wave of genomic insights. And even if it was, there's no guarantee that the test is easy to order, and there's little chance the insights it revealed most likely tucked away in the patient's electronic health record as a PDF would be available to other clinicians along the continuum of care. And there really is no methodology for screening genetic tests.
Long story short: Despite the massive leaps forward in knowledge since the completion of the Human Genome Project in 2003, the healthcare industry has yet to grapple with the big changes to people, process and technology needed to truly capitalize on it.
"Most patients are eager for more effective means of care and the technology issues are readily solvable when the problem set is well defined," said Rule. "The primary issue today is a catch 22 between providers looking for evidence of success and the evidence of success is scanty because of low utilization."