Healthcare providers can barely open a professional journal or participate in an industry event without confronting the term “precision medicine.” It is touted as innovative, paradigm-altering and revolutionary.
Unfortunately, all this hype has also rendered it intimidating and foreign. Providers seeking to deliver only the best care possible to their patients are at a loss and sincerely wonder how they are supposed to perform precision medicine.
When Investment Rhymes with Canada
Canada has a proud history of achievement in the areas of science and technology, and the field of biomanufacturing and life sciences is no exception.
The good news is that precision medicine does not represent a departure from current clinical practice. Instead, it’s another instrument in the toolkit and should be as easy to employ as other considerations during decision-making.
New “flavor” of time-honored approach
In actuality, providers have been practicing precision medicine for centuries in that they’re committed to selecting the best approach for the individual being treated. They prescribe dosages based on patient age and weight, for example. They may admit patients to a facility convenient to their home when needed. They consider previous conditions, personal preferences, historical compliance with care plans and more before deciding on a specific course of action.
What’s new is the overlay of genetic and genomic information, and this is where some clinicians become intimidated by today’s focus on precision medicine. But this, too, is simpler than it looks. Briefly put, genetics and genomics offer another dimension of information to help providers identify patients at greatest risk for specific diseases, disorders and conditions; to diagnose individuals sooner and with greater accuracy; and to select treatments most likely to deliver the best outcomes fastest.
Specialties such as oncology, pediatrics and orthopedics have been among the first disciplines to begin leveraging genetic and genomic testing as an integral component of their clinical workflows.
Long recognized as a bastion of precision medicine, those treating cancer perform tests on the tumor tissue itself to identify which therapies are likely to be most effective. Instead of treating cancer by the site where the disease manifests itself (e.g., breast, lung, GI tract), oncologists now use therapies targeted to attack the molecular profile of the disease.
They also use genetic testing of the patient’s native DNA to help individuals who might be at risk for heritable cancers (e.g., BRCA 1 and 2 variants), facilitating preventive activities and early interventions. More recently, they have begun to employ pharmacogenomics (PGx), which identifies potential drug-gene interactions, to guide prescribing practices around pain and anti-nausea medications, among other applications.
Neonatologists and pediatricians increasingly rely on genetic testing to treat acutely ill newborns and infants failing to thrive. Consider a baby suffering from an unknown seizure disorder. Testing can help clinicians determine if a genetic mutation is causing any one of a number of syndromes so precise treatment can begin. This alleviates the patient’s and family’s suffering, improving outcomes, reducing costly emergency or intensive care, and possibly alerting the family to a heritable condition that might affect other biological relatives.
Orthopedists are likewise incorporating genetic testing to improve patient care. PGx, for example, helps them identify potential drug-gene interactions that might reduce the effectiveness of painkillers, discouraging the patient from completing physical therapy and slowing recovery. Or perhaps the test includes PGx results revealing how a prescribed anticoagulant might prove ineffective, putting the patient at risk for bleeding during or following orthopedic surgery.
Genetic testing likewise can advance an orthopedic practice’s success by helping young athletes better understand “encoded” strengths and vulnerabilities. This enables them (and, sometimes, their parents) to establish more effective training routines, avoid injuries and optimize performance.
While some specialties are early adopters of genetic and genomic insights, their progress can easily be applied to other areas of clinical practice. With appropriate pedigree tools, for example, any provider can identify patients at risk for disease and refer them for genetic testing.
These tests can reveal variants that alert the clinician to elevated risk within his or her specialty, whether cardiology, neurology, maternal-fetal medicine, endocrinology or another area of medicine. In cases where genetic conditions are detected, these specialists can use test results to more accurately pinpoint the diagnosis (e.g., dilated cardiomyopathy) and select a therapy that’s most likely to produce optimal results.
Informatics helps organizations gain full benefit
To gain full benefit, however, healthcare organizations are well advised to implement appropriate informatics solutions for a number of reasons.
- Volume of data generated via genetic testing. Because genetic testing is a relatively new component of clinical practice, many organizations have yet to realize the volume of data that is produced. Current systems are not calibrated to consume, manage and store this information.
- “Shareability” of genetic and genomic data. An individual’s genetic profile rarely changes over a lifetime. This means test results are relevant not only to the immediate clinical encounter, but could be used by countless providers across multiple specialties for years to come.
- Dynamic nature of genetic and genomic science. Research moves at a blinding pace, and knowledge about specific genes and mutations will continue to evolve. While conclusions drawn today about a patient’s genetic results might be 100% accurate given the current state of science, new discoveries can change clinical practice. Providers will need access to up-to-date clinical evidence and guidance as intelligence grows.
Precision medicine no doubt represents a watershed moment in healthcare. Providers regardless of specialty will benefit from advances in genetic and genomic science because they will be able to diagnose patients sooner and with greater accuracy, and subsequently select therapies that will deliver results faster. Innovative health leaders are already moving quickly to ensure organizational protocols are in place, data is being managed and workflows are being modified to ensure full value can be leveraged.
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