What is Precision Medicine, and What
Does it Mean for Your
Clinical Laboratory?

Again, most of the focus of precision medicine is on genetic factors. Precision medicine researchers look for genetic abnormalities that are linked to specific diseases. Thanks to this research, doctors can now treat many of the genetic abnormalities themselves instead of just treating the resulting disorders. This approach tackles the root of the problem, perhaps providing more effective treatments and even cures.

Furthermore, if doctors can treat the abnormalities before they result in diseases, they may prevent those diseases from emerging in the first place. At the very least, they may help their patients to lessen the severity of these diseases by taking a proactive approach.

One example of this proactive approach comes from certain breast cancer treatment drugs. Breast cancer has a strong genetic component, with a percentage of inherited breast cancer cases being linked to mutations in the BRCA1 and BRCA2 genes. Some breast cancer medications target these genetic abnormalities specifically.

Precision medicine also opens doors into often-overlooked treatment possibilities. By understanding a patient’s genetic tendencies, doctors may notice potential treatment options that will respond better to that patient’s genetic makeup than more widely-used treatments.

Precision treatments and testing may also be applied when dealing with certain cancers or other disorders that resist traditional treatment methods.

Some disorders, such as heart disease, are highly complex and include multiple factors. Because these disorders are so complex, they often demand a multifaceted treatment approach involving medication, different therapies, and day-to-day lifestyle changes.

However, not every medication, therapy, or lifestyle change will work in the same way for every patient. Precision healthcare can help doctors tailor their prescriptions and recommendations based on each patient’s background and situation, perhaps removing some of the guesswork from these already complex treatment programs.

Precision medical treatments also bring the possibility of better equity in medical care. Generally speaking, medicines are developed, recommended, and prescribed based on how well they work for the average patient. However, thanks to certain biases in the American clinical research field, “average” tends to mean “white and male.”

American cancer drug trials, for example, generally include far more men than women, with breast cancer drug trials being the exception. For example, while women make up nearly half of lung cancer diagnoses, they make up less than a third of lung cancer clinical trial participants.

The problem with this disparity is that medications, in general, affect female bodies and male bodies differently. A drug that seems successful in clinical trials may only truly be successful in treating men, but doctors will still prescribe that medication to female patients who won’t see the same results. Likewise, a supposedly “unsuccessful” clinical trial may actually produce excellent results in majority female groups, and the bias toward male bodies may prevent women from receiving treatments that can work well for them.

Sex isn’t the only factor involved in clinical trial disparities. American clinical trials also lack representation among racial minorities. One ProPublica analysis found that clinical trials for cancer treatments often have little representation of Black patients, even when the cancer being studied disproportionately impacts Black people over other racial groups.

ProPublica gives the example of Ninlaro, a drug for the treatment of multiple myeloma. The drug was approved after a successful clinical trial. However, that clinical trial had a glaring issue:

One out of five people diagnosed with multiple myeloma in the U.S. is black, and African Americans are more than twice as likely as white Americans to be diagnosed with the blood cancer. Yet of the 722 participants in the trial, only 13 — or 1.8 percent — were black.

The study did not, therefore, examine whether Ninlaro may impact Black patients differently than white patients.

Just like sex-based underrepresentation, racial underrepresentation can keep some patients from getting the treatment that will work best for them. Overall, this “one-size-fits-all” approach to medicine doesn’t always work. The medical field needs more varied clinical studies to gain a more accurate perspective, and those variations should include the aforementioned factors as well as other underrepresented factors, like disability and sexual orientation.

Precision medicine may someday put an end to the “one size fits all” approach to healthcare. By taking genetic factors into account, it can provide more accurate predictions about which treatments will work best for specific patients. This approach will help doctors find the right treatments for their patients more quickly, and it will save many patients from the frustration of the “trial and error” method.

It’s no secret that Americans are struggling with the cost of healthcare. A portion of those costs comes from diagnostic testing, repeat doctor’s office visits, and switching medications when the previous medication doesn’t work.

Precision healthcare may help American patients cut back on those costs. When a patient leaves the doctor’s office, they are still expected to make their copay, whether or not they got any answers from the visit. They still have to pay for their medication, even if that medication doesn’t ultimately help them.

But what if those patients could receive an accurate diagnosis with fewer tests and office visits? What if they received the right treatment plan the first time, without all of the trial and error that sometimes comes with medical care? In this case, patients could spend far less money on copays and medications, and doctors could work more efficiently.

It’s a possibility with precision medicine. Precision healthcare can tell doctors how likely a patient is to have a specific disease or disorder. It reveals potential disorders that are rare in the general population but more common among specific subgroups. It can also help doctors figure out which medications are more likely to work for specific patients, depending on those patients’ genetics and environments.

Because precision healthcare can help provide more answers in fewer office visits, it can potentially decrease the burden of medical treatment costs.