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Precision Medicine 101: Genetic tests

Get the basics of what this means for you and your employees.

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

Along with your unique genetic building blocks, your environmental conditions and lifestyle choices make you, well, you. It's these unique interactions that can make a treatment for a condition successful or an alternate necessary. By fine-tuning treatments to account for a person's genes, lifestyle, and environment, providers can deliver the right treatment — for the right person — at the right time. That's called precision medicine External Site.

Though the term precision medicine is relatively new, the idea isn’t. Blood transfusions based on blood type, which have been in place for decades, help lower the risk of complications. But, you're likely hearing about precision medicine more often now thanks to the booming industry of genetic testing.

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10 new genetic tests launch daily. 75,000 genetic tests in-market today. Estimated spending on genetic testing will reach $15–$25B within a decade. Costs range from $100–$2,000+ per test, depending on complexity. Research indicates 1/3 of genetic testing done today is inappropriate.

Genetic testing is finding its way into our everyday lives. It could be general, like direct-to-consumer ancestry analysis1 23andMe®. Or be more specific, such as the BRCA gene test to determine risk for breast and ovarian cancer External Site. In a clinical setting, these tests (conducted on blood, saliva, or other tissues) look for any changes — called mutations — in a person's DNA. Results may diagnose a disease or the risk of getting 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 children.

These tests have the ability to improve the health of Wellmark Blue Cross and Blue Shield members and increase the value of care they receive. Precision medicine is moving fast, and Wellmark will continue to proactively enhance medical policy, prior approval, and more to ensure evidence-based management of our members' health.

Genetic testing terms to know

Based on definitions from the U.S. National Library of Medicine's Genetics Home Reference, these are the terms to know regarding genetic tests. Want a deeper dive? Visit their Help Me Understand Genetics External Site primer.

  • DNA: Deoxyribonucleic acid is the hereditary material in humans and almost all other organisms. 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: An experimental 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 the high number of tests in the market (and more on the way), it's important to understand the variation in quality and potential misuse. Information like family health history can be a helpful resource to 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 a genetic test or genetic counseling makes 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 screening uses blood samples and other screening tests taken shortly after birth to identify any heart defects, hearing loss, and more, allowing treatments to begin sooner.
  • Genome sequencing of a particular germ, usually involving 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 treatment is most likely to work. And it helps predict if a cancer is more likely to return, too, which could alter treatment options and decisions for a patient.
  • Pharmacogenomics, or how a person's genes affect their response to a drug, can help a doctor land on the safest and most effective medication and dosage.

With insights like these, it seems like a win-win: The promise of a genetic roadmap to predict the likelihood of future conditions. 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 personal doctor to talk through options and outcomes.

To learn more about how Wellmark Blue Cross and Blue Shield is actively supporting and evaluating advancements, please reach out to your authorized representative or email us Send Email.


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1 The Centers for Disease Control and Prevention External Site (CDC) notes: Clinical genetic tests are different from direct-to-consumer (DTC) genetic tests, which can give some information about medical and non-medical traits. Clinical genetic tests are ordered by your doctor for a specific medical reason. DTC tests are usually purchased by healthy individuals who are interested in learning more about traits like ancestry, responses to medications, or risk for developing certain complex conditions. DTC test results can be used to make decisions about lifestyle choices or provide issues to discuss with your doctor. However, DTC tests cannot definitely determine whether or not you will get a disease and should not be used alone for decisions about your treatment or medical care.