Without confronting the term “precision medicine,” it’s virtually impossible for healthcare providers to open professional journals or attend industry events. It is touted as innovative, paradigm-changing and revolutionary.
Unfortunately, all this hype also makes it intimidating and unfamiliar. Providers seeking only the best care for their patients are overwhelmed and genuinely want to know how they should approach precision medicine.
The good news is that precision medicine does not represent a departure from current clinical practice. Rather, it’s another tool in the toolkit that should be as easy to use as any other consideration in the decision-making process.
A new “flavor” of an old brand
In fact, providers have been practicing precision medicine for centuries as they work to select the best method for the individual receiving treatment. For example, they prescribe doses based on the patient’s age and weight. They may give patients access to facilities that are convenient from home when needed. They consider previous conditions, personal preferences, historical adherence to care plans, etc., before deciding on a specific course of action.
What’s new is an overlay of genetic and genomic information, and that’s where some clinicians are intimidated by today’s focus on precision medicine. But it’s also simpler than it looks. In short, genetics and genomics provide another dimension of information to help providers identify patients who are most at risk for specific diseases, disorders and conditions; diagnose individuals more quickly and accurately; and select those most likely to The treatment that provides the best results, the fastest.
Specialties such as oncology, pediatrics, and orthopedics were among the first disciplines to begin utilizing genetic and genomic testing as an integral part of their clinical workflows.
Long considered a bastion of precision medicine, those who treat cancer test the tumor tissue itself to determine which treatments are likely to be most effective. Rather than treating cancer by looking at the site where the disease manifests itself (eg, breast, lung, gastrointestinal tract), oncologists now use therapies that target the molecular features of the disease.
They also use genetic testing of a patient’s natural DNA to help individuals who may be at risk for hereditary cancers (eg, BRCA 1 and 2 variants), promoting preventive activities and early intervention. More recently, they have begun using pharmacogenomics (PGx) to identify potential drug-gene interactions to guide prescribing practices around pain and anti-nausea medications, among other applications.
Neonatologists and pediatricians are increasingly relying on genetic testing to treat critically ill newborns and babies with developmental delays. Consider an infant with unknown epilepsy. The test can help clinicians determine whether a genetic mutation causes any of a variety of syndromes, so that precise treatments can be initiated. This reduces suffering for patients and families, improves outcomes, reduces costly emergency or intensive care, and may alert families to genetic disorders that may affect other biological relatives.
Orthopedic surgeons are also incorporating genetic testing to improve patient care. For example, PGx could help them identify potential drug-gene interactions that could reduce the effectiveness of painkillers, prevent patients from completing physical therapy and slow recovery. Alternatively, the test could include PGx results, revealing how prescription anticoagulants have proven ineffective, putting patients at risk of bleeding during or after orthopaedic surgery.
Genetic testing can similarly contribute to the success of orthopedic practice by helping young athletes better understand “coded” strengths and weaknesses. This allows them (and sometimes their parents) to build more effective training routines, avoid injuries and optimize performance.
While some specialties were early adopters of genetic and genomic insights, their advances could easily be applied to other areas of clinical practice. For example, using the appropriate pedigree tools, any provider can identify patients at risk for disease and refer them for genetic testing.
These tests can reveal variants that alert clinicians to elevated risks within their specialty, whether it’s cardiology, neurology, maternal-fetal medicine, endocrinology, or other fields of medicine. In cases where a genetic disorder is detected, these specialists can use the test results to more accurately determine the diagnosis (such as dilated cardiomyopathy) and choose the treatment that is most likely to produce the best outcome.
Informatics helps organizations reap the full benefits
However, in order to fully benefit, healthcare organizations are advised to implement appropriate informatics solutions for a number of reasons.
- The amount of data generated by genetic testing. Because genetic testing is a relatively new component of clinical practice, many organizations are unaware of the amount of data generated. Current systems are not calibrated to use, manage and store this information.
- “Shareability” of genetic and genomic data. A person’s genetic profile rarely changes throughout life. This means that test results are not only relevant for direct clinical contact, but can be used by countless providers in multiple specialties for years to come.
- The dynamic nature of genetic and genomic sciences. Research is advancing at an alarming rate, and knowledge about specific genes and mutations will continue to evolve. While conclusions drawn today about patient genetic outcomes may be 100% accurate given the current state of science, new findings can change clinical practice. As intelligence grows, providers will need access to the latest clinical evidence and guidance.
Precision medicine certainly represents a watershed moment in healthcare. Regardless of specialty, providers will benefit from advances in genetic and genomic science as they will be able to diagnose patients faster and more accurately, and subsequently select therapies that provide results faster. Innovative health leaders are already moving quickly to ensure organizational protocols are in place, data is managed, and workflows are being revised to ensure that value can be fully leveraged.
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