«  View All Posts

5 Genetic Testing Questions You Need to Ask

December 27th, 2022 | 3 min. read

By Jim Mumper, M.D.

What questions should you be asking about genetic testing?

Genetic testing continues to increase in popularity thanks in large part to various direct-to-consumer (DTC) services.

While many people pursue genetic testing to find out more about their heritage, it’s not all fun and games. There is a lot more to consider before you send in that DNA sample.

Genetic testing is not for everyone, and there are motivations, outcomes, and scenarios that you need to consider before getting tested.

Be sure to talk to your doctor before making any decisions related to genetic testing. They can talk through your motivations and concerns to ensure you are making the best decision.

What should you consider before making a decision? Consider these five questions.

1. Why do you want genetic testing?

Many motivations exist as to why you might want to pursue genetic testing. You might want to know more about your ancestry. Or maybe you want to find out about your risks for certain diseases. You might even be looking to get information on potential lifestyle changes to live healthier.

There’s no right or wrong answer to this question – it’s up to you.

Answering this question will give you a firm starting point as you begin the process and, if genetic testing is right for you, can help inform you which kind of testing you need.

The Human Genome Project lists seven types of genetic tests, from the obvious such as diagnostic (determines if you have a disease) or predictive (determines if you are at an increased risk for a disease) to the more complicated like pharmacogenomics (how medicines are processed by your body).

Determining what you want to achieve with genetic testing will help you and your doctor choose the right tests for you.Young couple reviewing genetic test results at home.

2. Do you understand the limitations of genetic tests?

Before you get tested, you should know the results of genetic tests are not definitive. You might test positive for an increased risk of cancer. That does not mean you will get cancer.

On the other hand, you might not test positive for an increased risk of cancer. That also does not mean you won’t get cancer.

In addition, genetic testing will often report findings as “variations of unknown significance” (VUS), which means it is unclear whether that particular genetic variation means anything important from a health standpoint.

You might get tested and have no way of knowing if a result is potentially good or potentially bad.

Genetic counselors help navigate situations like these, but knowing that possibility exists ahead of time and gauging how you feel about it is the best course of action.

3. How might you feel if you get a positive result on a certain test?

As mentioned before, genetic testing can reveal markers on certain genes that indicate a predisposition for certain diseases.

While it might seem fun at the beginning to learn you have distant relatives from Ireland, the results of a genetic test can turn serious very quickly.

Before you send in that DNA sample, think about how you might feel if the results come back positive for a predisposition to a disease such as cancer, Alzheimer’s, or something else

The results could cause you unnecessary stress and potential overreactions. You might worry constantly about a disease that never develops. You might pay for treatments or make lifestyle changes that may not do anything productive, wasting your time and money.

On the other hand, if you understand the limitations of the results, having the knowledge it provides might be helpful.

You might adopt a healthier diet or start exercising more. It all depends on how you think you will handle the results. Talking through the possibilities with a physician or genetic counselor can help prepare you for various outcomes.

4. How might your family feel if you get a positive result on a certain test?

The stress of genetic testing results could stretch beyond your own life. It can impact your family as well. Imagine testing positive for a genetic predisposition to breast cancer. If you have a sister, should she know? She likely has the same genetic predisposition, after all. 

If you do tell her, does she have the financial means to pay for potential treatment? Will you feel responsible if she does start paying for various treatments?

Does your sister even want to know? She might prefer to live life not knowing. How will either of you feel if only one of you develops breast cancer down the line? Could there be survivor’s guilt?

A genetic test can create more unanswerable questions than definitive answers, especially when it comes to your family.

5. If you already have a disease, what do you plan to do with the information you get from your genetic test?

If you’re looking for the golden cure for your health problems, genetic testing probably won’t help you there.

While there are selective examples where specific biomarkers or genetic tests can help guide decision-making when it comes to treatment, the issue remains that there is a lack of reliable biomarkers for most conditions and a lack of clear therapeutic alternatives based on genetic differences for many conditions.

How does PartnerMD approach genetic testing?

At PartnerMD, in accordance with the American Medical Association’s Code of Medical Ethics, we do not encourage testing unless there is effective therapy available to prevent or ameliorate the condition tested for.

After talking through the process with our patients and making the decision to move forward with testing, we recommend reputable genetic testing services and genetic counseling both before and after.

What should you do now?

If you think you are ready to begin the genetic testing process, the first step should always be to discuss it with your doctor.

If you’re still unsure, free to check out these resources for more information on genetic testing:


Jim Mumper, M.D.

As a family medicine physician and Chief Medical Officer of PartnerMD, Dr. Jim Mumper brings over 30 years of experience in primary care. Every time he sees you, his goal is to show kindness and meet your needs. He co-founded PartnerMD to focus on personalized, preventive care. Dr. Mumper's leadership has been vital in establishing PartnerMD as a leading concierge medical practice dedicated to patient-centered care.