Precision medicine is the ability to match the best treatment for a patient, based on genomic, environmental and personal information. This individualized care plan enables the physician to skip the trial-and-error approaches of common medicine and get the patient on the right pathway on the first attempt.
Scientists first mapped the human genome more than a decade ago and, since then healthcare has matured its capability to use genomic information to improve diagnosis and treatment. Studies show that a majority of physicians agree that precision medicine will influence everyday clinical practice in the near future.1
As an industry, we recognize the value of personalizing patient care with genomics in combination with other personal and health information. Healthcare IT is making strides to bring precision medicine into the mainstream.
Translating Genomic Information at the Point of Care
While clinicians are enthusiastic about the promise of precision medicine, many would like to further develop their own expertise in this area. Perhaps the biggest problem for clinicians is being able to derive meaningful outcomes, conclusions and even more so, clinical actions from mutations of about three billion base pairs of proteins found in the human genome.
One study found that nine out of 10 physicians would like to know more about personalized medicine.1 Physicians have always expected pharmaceutical companies to provide guidance about how to best use drugs in treatments and that expectation extends to genomic applications, too. About 70% of physicians would like to learn more about precision medicine from pharmaceutical companies, but only about 20% currently receive information from those sources.
Clinicians want to learn the meaning of genomic information, understand the relationship between these characteristics and diagnoses, and know how to use it efficiently. They want to know which patients will benefit most, and they need to keep up with the latest findings as research progresses. In an ideal world, they would be able to access all of this information, in a meaningful way, at the point of care through their electronic health records (EHR) only when needed.
Blazing a New Trail with Precise Disease Visualization
Healthcare IT will have to find ways to both manage and represent genomic knowledge in a smart and efficient way for clinicians at the point of care. It must provide new technologies and capabilities, not only for the needed computing power and data storage required to analyze a full genome, but also in new data models to cross-pollinate clinical with genomic information and in smart visualization of the new knowledge at the point of care.
Those who introduce precise disease visualization will blaze the trail for a new frontier. We are about to leap frog in the enablement of precision medicine. This advance must be innovative enough to enable translating full DNA analysis into actionable steps and making it available to the clinician at the point of care and equally important, to the consumer. Representing this knowledge in an intelligent way, across the continuum of care, is a key success factor.
For example, the ability to visualize a disease in a precise way, semantically organized and tailored for a specific patient, will enable us to have the clinical intervention points (past, present and future), crossed with the genomic background and precise risk analysis, all in one view. This view should be available from within the EHR and should support a closed loop of actions to and from the genomics and clinical dimensions.
The success of precision medicine will depend heavily on our ability to tie and build it on top of the modern healthcare foundations. Population management, interoperability, risk stratification and analytics, are only a few pillars one should consider when realizing precision medicine.
Technology can also help ease other considerations regarding genomic-based treatments, such as financial cost. Mapping the full genome can be costly at first, but we already see examples of affordable models. Payers in the United States will have an opportunity to use it as a basis for new insurance products and programs. Additionally, practical precision medicine will help identify the relevant patients for a specific treatment or tailor a treatment to a subpopulation of patients. This capability will increase the cost effectiveness of the treatment and accelerate the intervention opportunity.
From Reactive to Proactive to Predictive Medicine
Today, providers mainly interact and engage their patients when they are sick. Providers try to diagnose the problem correctly and select the best treatment that works for most similar patients, based on best practices. If the treatment doesn’t work—or worse yet, if it causes harm—the provider will adjust and select another treatment option. This trial-and-error method is unnecessary when precision medicine could provide greater insight into the specific disease and specific patient.
A growing number of chronic conditions and diseases that have clear genomic expressions can help guide clinical decisions. For example, our genes reveal predictive potential for depression, asthma, Alzheimer’s disease, hypertension, cancer and the list goes on. These genomic mutations can have a significant influence on prevention and wellness planning, especially when clinicians have that information early enough.
Instead of reactive approaches, precision medicine seeks to move healthcare toward more proactive and ultimately predictive approaches. For example, if a man has a genetic mutation linked with an increased risk for colon cancer, providers and payers can monitor his condition closely with a higher frequency of subsidized colonoscopy.
Oncologists are among the early adopters for precision medicine. We know that a person’s genomic map can heavily influence his overall lifestyle, behavior and health. More specifically, many cancer types have a dominant genetic signature. Certain genetic mutations are causally linked to cancer cases, including 56% for thyroid cancer, 51% for colon cancer and 73% for melanoma.2 For many oncologists, precision medicine is already influencing the recommendations for certain treatment protocols in specific cases.
Closing the Loop with Clinical Trials and Research
As the industry more widely accepts precision medicine, across different disease states, we see new trends in population health management. Precision registries help define populations and subpopulations, identifying patients that require more customized treatment and introducing earlier diagnosis and risk stratification.
While being able to diagnose a patient much earlier than before is very powerful at the point of care, this capability is especially impactful for clinical trials and research. President Obama’s January 2015 announcement of a precision medicine initiative, aligned with the industry’s current maturity level in this area, will, among other things, accelerate the lifecycle of drug research.3
With the right technology in place, precision medicine will enable researchers to identify or disqualify patients for clinical trials based on genomic information. Even better, this technology can close the loop by collecting information about how patients respond to the prescribed regimen. Harvesting that information through the EHR and aggregating it for researchers is extremely valuable in recommending treatments for the next patient.
Requires Increasing Consumer Engagement
Precision medicine will make it possible for caregivers to help patients prevent illness and even understand potential outcomes and costs in real time. Trends in clinical decision support, population health management and research all represent different levels of information required for success.
But one of the most important roles will be played by the patients themselves. Patients and consumers will want to be more engaged as precision medicine plays a greater role in their care. They will be asked to provide a lot of information to clinicians, and ultimately patients should receive, understand and keep their own genomic information.
The rise of consumer access to genomic information enables clinicians to engage patients more productively. Proactive and predictive interventions are possible with full cooperation from patients. Only then will we realize the full potential of precision medicine to provide a better quality of life.