Promise of precision medicine depends on overcoming big obstacles
Paul Cerrato says he first started researching precision medicine almost 30 years ago.
"Back then it wasn't called precision medicine, but when I was in graduate school I did my final master's thesis on 'biochemical individuality' – that was the buzzword," said Cerrato, a healthcare journalist. "That was the beginnings of the thinking about personalizing care: trying to understand how each human body is different before they can figure out how to treat individuals."
Fast forward three decades and the excitement around precision medicine seems to finally be at a tipping point thanks to maturing technology, more cost-effective gene sequencing and momentum-building federal projects such as the Precision Medicine Initiative and the Cancer Moonshot.
But the obstacles are also substantial – from the high cost of drugs for precision oncology, lack of widespread interoperability, skepticism on the part of some clinicians and challenges related to patient engagement.
At the Healthcare IT News Precision Medicine Summit in Boston on June 12, Cerrato, along with Beth Israel Deaconess Medical Center CIO John Halamka, MD, will discuss the obstacles and opportunities facing personalized medicine.
Halamka knows well about the opportunities. And not just because he's a renowned expert on health information technology. His wife, Kathy, was successfully treated for breast cancer with help from some sophisticated precision medicine tools and techniques.
Cerrato and Halamka just finished a book together, Realizing the Promise of Precision Medicine, due to be published by Elsevier in October. In it, they offer some insights into Kathy's treatment, but focus more generally on the transformative potential of personalized care, exploring the role of electronic health records, patient-facing mobile apps, health information exchange and more.
They're hopeful about the future. But cognizant that some substantial hurdles will need to be overcome along the way.
"When we were researching the book there was a lot of positive data, but also quite a bit of skepticism, and criticism of the whole concept that precision medicine should have such an important role in patient care," said Cerrato.
One of the central goals of their book, and their talk in Boston this month, is to counter the misapprehension of many clinicians that precision medicine has limited applications in the real-world care settings.
For instance, he said, many physicians argue: "'Personalized medicine? We already do that. We don't need to spend another $200 or $300 million on a precision medicine initiative because we already provide personalized care on a daily basis.'
"Of course, the answer to that is, that's personalized care with a lower-case P," said Cerrato. "We're talking about something much more sophisticated and much more involved: genomics and microbiome and lots of other risk factors. The average doc might be personalizing medicine by switching from one antibiotic to another, or asking patients if they have liver disease before they decide to use a statin, or those kinds of things. That's personalization, but those are the baby steps."
Another objection has less to do with changing culture and mindset and more to do with financial realities, he said. And this one – in the near term, at least – has some merit.
"The second obstacle we're dealing with is the objection of some thought leaders in clinical medicine that precision medicine will simply cost too much," said Cerrato. "There's some substance to that objection. You look at the cost of precision medicine drugs that have been coming out the past couple years – they're really astronomical. And the return on investment, very often, is limited, especially in cancer care," where hugely expensive drugs are sometimes only able to prolong life for a few months or a year.
"It's a work in progress," he said. "We don't have a simple answer to that. But we've got to put it out there. One of the reasons we want to give a presentation like this and write a book like this is we want to convince docs in the trenches, and thought leaders in clinical care, that precision medicine really is a model they should be following. In order to do that, we really should be up front about their criticisms. We have to address them directly."
Another common concern is that "physicians' workloads would be greatly increased if they had to start practicing precision medicine on a daily basis," said Cerrato. "You're talking about mountains and mountains of information. How do you translate that so a physician who only has 15 minutes with a patient can use that in daily care?"
Again, not an unreasonable point to make. Gene sequencing is still pretty expensive, too. “But even if it cost a dollar, the average primary care physician does not know how to interpret genomic data."
Technology also poses big challenges, especially while interoperability remains elusive. "Without interoperability, precision medicine is really not going to get too far."
EHRs too are lagging badly in their ability to handle data-intensive genomics. "Right now we're not at the stage where a physician can just open up his electronic health record and say 'OK, what does this patient's gene sequencing look like?' We're not there yet."
But there are big reasons for optimism, too. As Halamka said, Kathy's treatment benefited greatly from technologies such as Clinical Query 2, software at Beth Israel Deaconess that allows physicians to see anonymized health records of cohorts of patients, tailored by different demographic and clinical parameters.
"It looks at all the patients who have had similar signs and symptoms and lab values and shows what were the treatment recommendations for those patients," said Cerrato. "It allowed the oncology team to individualize the care for Kathy so it would meet her needs, while eliminating the possibility of her getting treated with a protocol that would do more harm than good."
Most precision medicine and genomics work is still being done at advanced academic medical centers such as BIDMC, of course.
But on a smaller scale, there's still big promise for other types of personalized treatments.
"There are certain aspects of the field that are already happening right now. Especially in the field of diabetes, there's enough out there in terms of mobile apps and other digital tools, that is allowing physicians who are interested to practice precision medicine today," said Cerrato.
"Scripps has come out with an app for asthmatics, and it does a lot of the heavy lifting for clinicians by allowing patents to put in some basic parameters about their peak flow readings and their medication use and a few other things," he added. "When a doc uses that for the asthmatic patient, they don't have to do all the work. The technology of the app will do it for them. It has built-in decision trees to help them make better decisions on a personalized basis."
The bottom line, said Cerrato, is that there are some aspects of precision medicine that are working for some docs now and there are some aspects that remain in the future – either because “they're not educated enough to know how to do it, or the clinical data is not there yet."
How long it takes for genomics and personalized treatments to become commonplace still depends on the answers to a host of clinical, financial, technological and cultural questions, he said, but "I do think it will be the standard of care in the future."