The Ins and Outs of Medical Genetic Testing

Gene structure

You’re in the car one day listening to the radio, and you hear a commercial for a local hospital about how they offer a full panel of genetic testing for your newborn baby. First of all, what is genetic testing and why is it even important? Will your insurance cover it?

Genetic testing is an idea that has been around for a while, but has only recently been put into practice. It requires you to submit a DNA sample (usually through a saliva swab or blood draw) to a lab to map out your genome, all of the chromosomes and other basic building blocks of your body.

One purpose of medical genetic testing is to determine whether there are changes in your genes that might predispose you to certain hereditary illnesses. For example, if a woman is diagnosed with breast cancer, her immediate female relatives are recommended to have certain genetic testing done to see if their risk of developing breast cancer is higher. The other major reason to have genetic testing performed is from a medication standpoint.

While medications are designed and tested to be effective in the general population, every person is unique and their body reacts to a drug in a different way than another’s. Sometimes very small differences in your genes can impact how your body metabolizes a medication, leading to unsatisfactory symptom resolution. No matter how much of the drug you take, you will never have the best reaction on that particular medication.

Customized treatment

Genetic testing graphThe importance of medical genetic testing is that the information it provides can help your healthcare providers custom tailor your treatment regimen. Perhaps you’re a young woman in her twenties who had an aunt who died of natural causes, but she carried a gene that increased her risk for breast cancer. By chance you decided to have genetic testing done, and learned that you also carry that high-risk gene. Even though you’re well below the usual age for preventative mammogram screenings to begin, your doctor might decide to start them now given your genetic history.

Or say you’ve been on one medication and your doctor keeps increasing the dose because it’s just not working well enough. You’ve tried several other drugs in the same class of medications with similar results, and your daily dose is well above the usual maximum daily dose. Finally, your doctor recommends you try genetic testing for a medication panel. It turns out your body metabolizes drugs in that class of medications so quickly that you were barely getting any of the active ingredient at all, even at that extremely high dose. Your doctor switches you to a medication in another class and immediately you start seeing results.

Insurance coverage

As for insurance coverage, it depends. It depends on your insurance plan and it depends on your situation. Since genetic testing for medical purposes is still relatively new, many insurers are not covering it. But if your circumstances warrant it – the results could have a significant, positive impact on your medical care – you should still consider going ahead with the testing. Your doctor may need to fill out a lot of paperwork regarding the medical necessity of the testing for it to be covered. While they’re not cheap, many of the genetic testing companies will work with you to try to bill your insurance. If the claim is denied, some offer financial assistance programs and payment plans.

The future of healthcare will be completely personalized care that will most likely stem from a person’s genetic information. It may be worthwhile to get a jump start by completing the genetic testing now, but only you can make that decision.

About the Author

Julie Kaplan, Pharm. D.
Julie Kaplan is a licensed pharmacist in Virginia and the District of Columbia. She received a Bachelor’s of Arts in English from The College of William and Mary and a Doctor of Pharmacy from Virginia Commonwealth University. She has experience in patient communication from working as a retail pharmacist.