We improve our health outcomes by being mindful of the diseases we may be at risk for and taking specific actions to help prevent them, such as eating well, exercising, and taking medications. However, the modern age of medicine is wonderful. In more recent years, we’ve been able to use our own DNA and genetic makeup to enhance our health in a number of ways:
Pharmocogenomics
Pharmacogenomic testing (PGx) is the process of analyzing your DNA to predict how you’ll respond to specific medications. For example, if you’re having trouble finding the right medications at the right dosages, your healthcare providers may look at how CYP2D6 affects medication metabolism.
Through this form of testing, they can determine how the liver enzyme responsible for processing medications works. Some people have little to no CYP2D6 function, which means medications break down slowly, build up in the body, and put them at risk of side effects or intolerance.
Others are rapid or ultra-rapid metabolizers, meaning they have increased
CYP2D6 activity, which causes medications to clear too quickly and reduce their effectiveness. Information like this can help healthcare providers determine the best medications at the most appropriate doses for maximum efficacy.
Disease Risk Assessment
Diseases are often a matter of luck. You can be the picture of perfect health and still be diagnosed with an illness more commonly associated with less well individuals. However, some people are more predisposed to certain conditions than others based on their genetic makeup.
Through DNA testing and disease risk assessments, healthcare professionals can determine whether you’re at an increased risk of certain conditions, such as breast and ovarian cancer from certain BRCA mutations, hereditary colon cancers, and heart disease. By understanding your level of risk, you can take a more proactive approach to your healthcare, such as earlier screening or preventive measures where possible.
Diagnosis of Rare Genetic Disorders
Healthcare professionals don’t always have all the answers. When you present with a collection of symptoms, a diagnosis isn’t always reached right away. In fact, some people wait years to find out what’s wrong with them, all the while battling with often-debilitating symptoms.
When symptoms are unexplained and routine tests have shed no light, genetic testing can sometimes provide a diagnosis that might otherwise be difficult to reach. About 80% of rare diseases have a genetic cause, and proper testing can stop a long search for answers.
Family Planning
Anyone of any family history or ethnicity is an excellent candidate for carrier screening. This is the process of undergoing a genetic test to determine whether you carry a gene change associated with inherited conditions, such as spinal muscular atrophy, cystic fibrosis, or fragile X syndrome. While carriers are usually healthy and show no symptoms, they can pass on their changed genes to their children.
Carrier screening is straightforward and can be performed by general practitioners, obstetricians, midwives, and specialized fertility or clinical genetic services. They simply take a blood or saliva sample and test for autosomal recessive conditions. This means that a child develops a disease if they inherit a faulty gene copy from both parents. If both partners carry the same gene change, there is a 25% chance with each pregnancy that the child will be affected.
There is less guesswork in healthcare than ever before. Whether you want to prevent an illness, manage the treatment of one, or predict one, you may find that DNA testing is the answer. Now might be the right time to learn more about your genetic makeup and start making more informed healthcare decisions.
