Precision medicine 101: genetic tests

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We don't expect our clothes to be one-size-fits-all. So why do we think of medicine that way?

Besides your DNA, your environmental conditions and lifestyle choices make you unique from others and sometimes determine if a treatment for a condition will be successful or require an alternative. By fine-tuning medicine to account for a person's genes, lifestyle and environment, providers can deliver the right treatment, for the right person, at the right time. This is called precision medicine.

How genetic testing is changing health care

Precision medicine has evolved significantly, transforming the health care landscape. For decades, matching blood type for blood transfusions was a basic form of personalized treatment. But, another type of precision medicine — genetic testing — is driving breakthroughs in the health and wellness industry, enabling more targeted and effective care than ever before.

Genetic testing is finding its way into our everyday lives in the form of direct-to-consumer ancestry analysis¹ kits that map where your ancestors are from or help you find distant relatives. Or to determine your risk for serious disease like the BRCA gene test for breast and ovarian cancer.

In clinical settings, these tests (conducted on blood, saliva or other tissues) look for changes — called mutations — in a person's DNA. The results of these tests may diagnose a disease, calculate the risk of developing one, identify genetic diseases in unborn children, determine the cause of a disease or treatment options and detect the likelihood of passing a disease to your children.

Knowing the results of these tests could improve the health of Wellmark members and increase the value of care they receive. Genetic testing and counseling are covered benefits under most Wellmark plans. Employees can find their coverage information any time when they log in to myWellmark^®.

Genetic testing terms to know

Here are a few terms you’ll need to understand about genetic testing.

• DNA: Deoxyribonucleic acid is the hereditary material in humans and almost all other organisms. DNA is stored as a code made up of four chemical bases: adenine (A), guanine (G), cytosine (C) and thymine (T). Nearly every cell in a person’s body has the same DNA.
• Gene: The basic unit of heredity made up of DNA.
• Genome: The complete set of an organism’s DNA.
• Genomics: The study of a person’s genome, including studying how these genes interact with each other as well as the individual’s environment.
• Pharmacogenomics: The study of how genes affect a person’s response to drugs.
• Genetic counseling: Health service that provides information and support to people who have or may be at risk for genetic disorders.
• Gene therapy: A technique that uses genes to treat or prevent disease by inserting a gene into a patient’s cells instead of using drugs or surgery.

Common reasons for genetic testing

With a number of tests in the market (and more on the way), it's important to understand the variation in quality and potential misuse of genetic tests. Family health history can help indicate if a person is more likely to get certain diseases. By using this background information before a disease appears, a doctor can help determine if genetic testing or counseling make sense.

• If a genetic test concludes a person has specific disease markers, a doctor can recommend increased screening and management options (like specific medication or even surgery).
• Newborn screenings are taken shortly after birth and use blood samples and other screening tests to identify any heart defects, hearing loss and more, allowing treatments to begin sooner.
• Genome sequencing of a particular germ, used typically during infectious outbreaks (like Salmonella bacteria), identifies a specific genetic "fingerprint." Doctors use this to determine treatment, and public health workers use it to track and find the outbreak source.
• A genetic test for a tumor, called tumor profiling, gives a doctor insight into what type of cancer treatment is most likely to work. And it helps predict if a cancer is more likely to return, which could alter treatment options and a patient’s decisions.
• Pharmacogenomics, or how a person's genes affect their response to a drug, can help a doctor prescribe the safest and most effective medication and dosage.

Though the science of genetic testing is getting easier to process, the emotional toll on individuals can’t be as easily predicted. As with any treatment option, there are positives and negatives. Results from genetic tests may lead to anxiety about getting a certain disease, or even cause feelings of anger, guilt or depression.

It's always best to educate and encourage your employees on the importance of meeting with their primary care provider to talk through all their options and outcomes. Not sure where to start? Start with our tips for encouraging preventive care in your workplace.