What Is Genomics, and How Does It Help With Precision Medicine?

You wouldn’t get the same food delivery order as your next-door neighbor—or wear the same size and brand of clothing as your coworker. So why should you use the same kind of healthcare strategies and solutions? Medicine, as we’re learning, is far more effective when it’s customized, and that’s where the study of genomics comes in. Today, I’ll explain a little more about the field of genomics and its relationship to what experts call “precision medicine.” In essence, the more we’re able to learn about each person’s unique genetic makeup, the better we’re able to address that person’s equally unique health needs.

• What Is Genomics?
• What Is Pharmacogenomics?
• The Future of Precision Medicine

What Is Genomics?

Don’t worry—you don’t have to be a leading molecular geneticist to understand how genomics works, at least not on a basic level. Genomics is the study of the human genome, i.e., all of the genes you’ve inherited from your mother and father. Your genome comprises approximately three million DNA base pairs, which are contained in every cell of your body, from blood to skin to muscle tissue. Your genes are responsible for physical characteristics like your hair, eye, and skin colors, your facial structure, and the length of your limbs. Experts also believe that your genes play a significant role in your temperament, which is why you might relate strongly to one (or both) of your parents. If you’ve ever mailed a little tube of your saliva to a DNA testing service to learn more about your ancestry, you have an idea of what genomics can do.

The genes you inherit can affect your health in myriad ways. You’ll likely recognize the names of some of the most common genetic disorders: Down syndrome (trisomy 21), Turner syndrome, Huntington’s disease, and cystic fibrosis. Many other medical conditions have multiple contributing factors that include genetics, like autism spectrum disorder, Alzheimer’s disease, diabetes, and cancer.

Although human beings share 99.9% of our DNA, we each have a unique genome (and yes, that even includes identical twins and other multiples). As we gain an ever-greater understanding of the human genome, we develop the ability to predict how our genes might affect our physical and mental health. That knowledge, as I’m sure you can imagine, is an incredible asset to doctors and other healthcare professionals. Let’s take a closer look at how they can use it with their patients.

What Is Pharmacogenomics?

Have you ever wondered why you respond really well to a certain medicine, even though you’ve heard people complain that it does zilch for them? It turns out that, as genetically unique human beings, we each have a different response to common pharmaceuticals. Pharmacogenomics is the study of how our genes can affect our response to drugs. If you need to use the anticoagulant (blood-thinning) drug warfarin, for example, your genes can affect how well it works in your body. Some people’s genes make them either partially or entirely resistant to warfarin, which means they may need to use an alternate drug. The same is true of the tricyclic antidepressant medicine amitriptyline, which some people’s bodies break down too quickly to be effective.

Now imagine if we had the ability to predict how any one person might react to any drug. We might be able to prevent a wealth of issues, like dangerous reactions to anesthesia or other sedatives. It could tell your doctor what medicines would be the most effective in treating serious illnesses, like cancer or heart failure. It may even make it possible for your care provider to prescribe medicine that helps prevent or delay the onset of a disease with a genetic component, like Alzheimer’s or type 2 diabetes. Science and medicine aren’t there yet, but it’s certainly a major goal of pharmacogenetics researchers. If a genetic condition affects your quality of life, or if you worry that you’ve inherited a disease from one of your parents, there are reasons to be hopeful.

The Future of Precision Medicine

As scientists continue to advance humanity’s understanding of our genetic makeup, we’ll see even greater developments in precision medicine. Precision medicine, sometimes called personalized medicine, considers your genes, environment, and lifestyle to develop a treatment plan that works for your individual concerns and needs. Genomics, as you’ve already seen, plays a major role in the practice of precision medicine. Some cancer treatment and research institutes, for example, are able to employ precision genomics to determine the best possible way to eradicate disease in each patient. Precision medicine can also play a role in the management of issues like heart disease and hypertension. It addresses conditions detected as early as in the first week of life, thanks to routine newborn screening procedures at most major medical centers. You can check out the Journal of Personalized Medicine for a wealth of great information on what’s happening in today’s precision health care.

You may be wondering if advances in genomics can help you manage, prevent, or eliminate a chronic medical issue that’s affecting your life. There’s no easy answer here, as experts understand the relationship between genes and some medical conditions much better than others. When it comes to treating certain cancers, genetic testing can reveal an abundance of useful information for your care plan. Reducing your risk of a disease with a genetic component, like Alzheimer’s, Parkinson’s, or ALS (Lou Gehrig’s disease) currently isn’t as straightforward.

That’s why it’s so important for you and your doctor to work together to develop a personalized healthcare and lifestyle plan that meets your unique needs. It may emphasize your diet and exercise habits, avoidance of high-risk behaviors like smoking and heavy alcohol use, and use of regular vitamins or other supplements. For some people, it could also require the regular use of medication. Again, it all depends on what you need, so be sure to share as much as you can with your doctor when you’re discussing your personal health history.

Where will genomics take us in the future? Here’s hoping it leads to better health, increased longevity, and safer medicine for all of us. The future looks bright!