We're looking for more great physicians to join our team! Explore more here.

«  View All Posts

The Pros and Cons of Genetic Testing

December 21st, 2022 | 3 min. read

By Jim Mumper, M.D.

What are the pros and cons of genetic testing? We explain.

Genetic testing continues to increase in popularity. However, it is not for everyone. Results of genetic testing can often be uninformative and ultimately can cause more stress and anxiety over the possibility of a disease you may never get.

Genetic testing should be encouraged only when there is effective therapy available to prevent or treat the condition tested for. There is little value in genetic tests that do not allow you to take action to reduce or change your risk for a particular disease.

In other words, genetic testing is a good idea only when the pros of genetic testing outweigh the cons of your situation. It’s shouldn’t be a one-size-fits-all approach.

It’s important to talk to your doctor about your motivations and concerns so you can make the best decision for your health.

So what are the pros of genetic testing? What are the cons? Let’s dive in.

What are the pros of genetic testing? 

1. Treatment of disease

If you already have a disease, understanding whether you have a genetic variant could inform treatment protocols.

For example, women with breast cancer often struggle with whether they should undergo chemotherapy.

A 2018 study published in the New England Journal of Medicine found “that many women with early-stage invasive breast cancer could safely forgo chemotherapy, if they score in the mid-range or lower for risk that their cancer will recur, as measured by a commonly used genomic test.”

The right genetic test for the right individual might provide information that would allow a doctor to recommend a different type of treatment. This is where genetic tests can be highly valuable.

Picture of four generations of females from one family

2. Lifestyle changes for disease prevention. 

If you don’t already have a disease, knowing you have a genetic variant for a particular disease could lead you to make positive lifestyle/behavioral changes to help lower the risk of getting that disease.

This can be useful for a disease such as Alzheimer’s. If you know you are more at risk for developing Alzheimer’s due to a genetic variant, you can change your lifestyle to try to lower your risk ahead of time.

3. Stress relief from lack of genetic variants.

Learning whether you do or don’t have a genetic variant can often provide relief from the “fear of the unknown.”

Think about the stress that comes from an online search of a simple symptom and the litany of diseases that appear as a result. It’s worrisome for everyone.

For some types of cancer and other diseases, genetic testing can reveal that you are not predisposed to develop that disease, which could reduce your stress.

What are the cons of genetic testing? 

1. A negative test could mask additional causes.

The result of any genetic test does not mean you definitely will not get a certain disease. It simply means you don’t have the genetic variant for that particular disease.

Diseases have other causes, such as environmental factors (like toxins in the air or water) and lifestyle habits (like an unhealthy diet or smoking). Just because a genetic test turns up negative doesn’t make it a lock that you won’t develop that disease.

2. A positive test could unnecessarily increase stress. 

Just like knowledge could decrease stress if it comes back negative, a positive test can also unnecessarily increase stress.

If a genetic test comes back positive for a certain disease, it doesn’t mean you will automatically get that disease.

You could get a positive test in your 40s and spend the rest of your life worried about whether that disease is going to come. And it may not. A positive genetic test just means you’re at a greater risk to develop it down the line, but doesn't guarantee anything.

There’s also the risk of “genetic purgatory.” You could have a gene that’s tested as a “variant of unknown significance,” or VUS, resulting in the mind game of “maybe it’s bad, maybe it isn’t.”

This can lead to mental anguish or worse — unnecessary medical interventions.

3. The cost of genetic testing can be high. 

While the cost of genetic sequencing has dropped steadily since its inception in the late 1980s, the National Human Genome Research Institute estimates the cost at around $1,000. As for health insurance coverage, that can vary as well, including partial coverage or complete coverage, depending on the test.

4. Genetic testing can come with privacy concerns. 

Privacy concerns plague all of us in this digital world, and the same is true for genetic testing. Who controls the info? Who has access?

According to the National Center for Biotechnology Information, the Health Insurance Portability and Accountability Act (HIPAA) “does not extend to DTC genetic testing companies" because they are not defined as "covered entities" under HIPAA. 

5. You could get an inadequate interpretation of your results. 

Qualified interpretation of results is essential. Not everyone is qualified to interpret results. Direct-to-consumer kits can prove especially problematic for this reason. This is why genetic counseling exists.

The National Society of Genetic Counselors says, “Genetic counselors are healthcare professionals with unique specialized graduate degrees and experience in the areas of both medical genetics and counseling. Genetic counselors work as members of a healthcare team, providing risk assessment, education, and support to individuals and families at risk for, or diagnosed with, a variety of inherited conditions. Genetic counselors also interpret genetic testing, provide supportive counseling, and serve as patient advocates.”

Genetic Testing at PartnerMD

PartnerMD believes that the highest level of care is individualized, personal, and based on our knowledge of you as a person.

We follow the directive of the American Medical Association’s Code of Medical Ethics, which states, “Physicians should not encourage testing unless there is effective therapy available to prevent or ameliorate the condition tested for.”

If you are ready to take the next step, we recommend having a conversation with your doctor to figure out if it is the right fit for you. In addition, check out these resources for more information:

Jim Mumper, M.D.

Learn More