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How Genome Testing Could Impact Personalized Medicine in the Future

By Donna Stark

How Genome Testing Could Impact Personalized Medicine in the Future

Can you imagine how miserable it would be if everything in your life was the same as those around you? If you had to dress like your friends and neighbors, drive identical cars, engage in similar activities, and eat the same types of food? A life like that doesn’t sound like much fun.

Thankfully, such a life isn’t our reality. That’s because we, as Americans, have been taught from the moment we are young that embracing our individuality is essential for personal happiness. But now, it seems like there are even more important reasons to do so. Car and food preferences aside, our health may depend on our individuality as well!

If you have heard about precision medicine, you might have an idea of what that means, but if you haven’t, buckle up -- it could be driving healthcare in the future! There’s a lot to learn about this approach to our individual health and how it can directly impact us all.

Precision Medicine? What Is That?

Precision medicine -- sometimes referred to as personalized medicine, stratified medicine, and P4 medicine -- is a type of healthcare that strives to give patients exactly what they need for the prevention and treatment of disease. It aims to enhance the effectiveness of patient care by focusing on each person’s genetic makeup, environment, and lifestyle habits. Simply put, precision medicine delivers the right care and the right treatment to the right patient at the right time.

But how exactly does it do that?

There are a lot of moving parts when it comes to precision medicine, but two of the most important are genetics and genomics.

The Role Genetics Plays in Precision Medicine

Genetics and genomics both play a huge role in precision medicine. Genetics is the study of how specific genes impact the body’s development, initiate disease, and affect the body’s response to drugs. It also seeks to understand the way certain traits or conditions are passed down from generation to generation.

When a person opts for genetic testing, it is usually because they are concerned about their own health or the health of their children. These tests were developed to identify specific gene changes that can cause genetic disorders or lead to a higher risk of specific medical conditions, like certain types of cancer, sickle cell disease, and spina bifida. Here’s a quick breakdown of the different types of genetic tests one may be required to take.

  • Diagnostic testing - If you are experiencing symptoms of a disease that may be caused by genetic changes, this type of test can reveal if you have the suspected disorder
  • Predictive testing - If there is a family history of a genetic condition, this test may show if you're at risk of developing that condition, even before symptoms appear
  • Carrier testing - This test could be beneficial if there is a family history of a genetic disorder and you want to have children
  • Pharmacogenetics - This type of test can help determine the most effective and beneficial medications and dosages for specific diseases
  • Prenatal testing - These tests can detect certain types of abnormalities in a baby's genes
  • Newborn screening - These tests are required for newborn babies and are important because, if something abnormal does show up, treatment can begin right away

If you are interested in genetic testing for yourself or a loved one, the first step is to speak with either your primary care doctor or a reputable genetic counselor. Genetic counselors are helpful throughout this process; not only will they recommend the correct tests, they will also help you understand the genetic test results and offer appropriate support and resources as you move forward.

The Role Genomics Plays in Precision Medicine

Unlike genetics, which studies specific individual genes, genomic medicine refers to the study of the human genome or a person’s entire genetic makeup, and its interaction with that person’s health.

The data that is collected from genome sequencing is similar to that which is collected from genetic testing, in that both can be utilized to diagnose unknown diseases, detect diseases prior to symptoms, and advance preventive care greatly. However, genomic testing also offers additional information that genetic testing doesn’t, and that can be extremely valuable to the public at large. That’s because it helps researchers discover why certain infections, environmental factors, and lifestyle choices can affect some people, or specific sub-populations, while not affecting others.

How Does Precision Medicine Help Doctors Treat Patients Better?

Understanding genetic profiles is important for individualized patient care, but when combined with information about a person’s environment and lifestyle, those genetic and genomic test results can become even more powerful. They can truly support the healing process at levels that haven’t yet been attained with previous care. Here are some specific examples of how precision medicine can help doctors treat their patients better than ever.

  • Predicts risk - Genetic variations can indicate levels of risk for certain diseases, allowing for early intervention and prevention
  • Guides treatments - Genome testing can help identify which genetic variants are driving a specific disease, leading to tailored and targeted treatment plans
  • Supports proper dosage - Genetic and genomic testing can help determine correct medication dosages, improving effectiveness while avoiding side effects and harmful medical care
  • Monitors progress - Genomic data can be used to track the progression of certain diseases and health conditions
  • Aids in the selection of clinical trials - Testing can help match patients with specific genetic markers to relevant clinical trials, increasing the chances of a healthy future
  • Reduces healthcare costs - Precision medicine can lead to a more efficient use of treatments, and often results in better outcomes, ultimately lowering healthcare costs for the patient

Is Precision Medicine and Personalized Medicine the Same Thing?

Now that you know a little bit more about precision medicine, you might be asking how it is different from personalized medicine, especially since “personalized medicine” used to be one of the main healthcare buzzwords in the early to mid 2000s. It’s a good question to ask because the two terms have been used interchangeably, however, there has been a prominent shift over the last decade to separate and distinguish them from each other.

The reasoning behind this shift was laid out in a 2011 report from the National Research Council. The authors of this report felt the term “personalized medicine” could be misinterpreted to imply that treatments and prevention strategies are uniquely designed for each individual.

In precision medicine, the focus is on identifying the most effective approach to healthcare based on genetic, environmental, and lifestyle factors. Additionally, precision medicine is targeted to both individuals and specific populations of people. This is an important distinction to remember as healthcare for both individuals and our communities at large continues to advance.

Ensuring Individuality, Improved Health, and Longer Lives

When you embrace your individuality, you know who you are. You know what you like, what you dislike, and what makes you happy. It’s something you were encouraged to do from an early age. And with precision medicine, you may be encouraged to continue doing so. Only now, you will also know what makes you tick, and you will know it in the deepest, most cellular way possible.

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