Q&A with genetic counselor Maggie Westemeyer about how genetic testing can help you unlock answers to kidney disease

AKF's "Answers Unlocked" educational campaign is supported by Natera.

Maggie Westemeyer, MS CGC, is a genetic counselor and the director of clinical genetic services in the Organ Health Division of Natera. In this Q&A, she answers questions about genetic testing and how it can help patients unlock the answers to their kidney disease and get the treatment they need. 

Please tell us your title and describe your role with Natera.

I am a genetic counselor and the director of clinical genetic services in the Organ Health Division of Natera, a genetic testing laboratory. I manage a team of genetic counselors focused on kidney genetics. Our main roles are to help clinicians and patients understand the impact of genetic testing for kidney disease. We help clinicians understand how genetic testing can be helpful for their patients and help them interpret their patients' genetic test results. We also provide genetic counseling services to patients, helping them understand the personal and familial impacts of genetic test results and how they relate to kidney disease. 

What is a genetic test? Are there different kinds? If so, what are they and how do you know which test to get?

There are many different kinds of genetic tests ranging from tests that examine a single genetic mutation to tests that examine many genes (panel testing), and even exome or genome sequencing tests that look at all of the genes related to human health. 

Your health care provider might recommend directed testing for a specific mutation that has been identified in your family. Your health care provider might recommend a genetic panel if you have symptoms of a condition that may be related to many different genes. In some situations, your health care provider may recommend broader genetic testing such as exome or genome testing.

All genetic tests have potential benefits and drawbacks, as well as limitations. Your health care provider or a genetic counselor can help you decide what genetic test is right for you based on your medical and family history.

How is a genetic test performed? 

Genetic testing is typically performed on a blood or saliva (spit) sample. Genetic tests analyze your DNA for differences (also known as mutations or variants) that can cause genetic conditions. 

What can you learn from a genetic test?

Genetic testing can give several possible results. The test may confirm a diagnosis or may give a new diagnosis. Genetic testing can be negative, which means no genetic changes are identified. Negative results are most informative when a person is tested for the same disease-causing variant(s) that a family member has. Genetic testing can sometimes have uncertain results, which means there is not enough information to tell if a genetic change is benign or disease-causing. 

Who should consider getting a genetic test? 

There are several reasons to consider getting a genetic test, including to diagnose a genetic condition if you have symptoms, to learn whether you have a genetic condition that runs in your family and to learn whether you could have a child with a genetic condition. A genetic counselor or health care provider can help you determine if genetic testing is right for you. 

How can genetic testing benefit someone living with kidney disease?

The results of genetic testing can help you and your health care provider make treatment decisions and give more information about how quickly your kidney disease may worsen so you can plan for future treatment.

How can genetic testing benefit someone living with kidney failure?

Genetic testing can help inform decisions about a kidney transplant. Genetic testing may be recommended for both kidney recipients and kidney donors.

When is it appropriate for someone not yet diagnosed with kidney disease to seek genetic testing? 

Individuals with a family history of kidney disease may wish to have testing for the condition present in their family. The decision to test for a condition before having symptoms is made by the individual along with their health care provider. This decision can be facilitated by meeting with a genetic counselor to review the options including the benefits and limitations of genetic testing. 

How can someone get a genetic test and how much do they cost?

Most genetic testing is ordered by a health care provider. The cost of genetic testing can range from under $100 to more than $2,000 depending on the type and complexity of the test. In many cases, insurance covers the cost of genetic testing. 

What are the next steps for someone after they have received the results of their genetic test? 

Review the results with your health care provider or a genetic counselor to understand the meaning of the results in the context of your health and family history so that any appropriate next steps can be taken. Next steps can include screening for additional health problems related to a new diagnosis, discussing treatment options with your health care provider, considering clinical trials and sharing genetic test results with family members so that they can consider testing.

What does a genetic counselor do?

Genetic counselors have advanced training in medical genetics and counseling to guide and support patients seeking more information about how inherited diseases and conditions might affect them or their families. They also interpret genetic test results based on your personal and family history. You may be referred to a genetic counselor to discuss your family history and genetic risks, before or after having genetic testing. Genetic counselors are part of the health care team and work with you and your health care provider to help you understand your genetic risks based on your family history, your genetic risks for certain diseases, if genetic testing might be right for you and what the results of genetic tests mean for you and your family. With expertise in counseling, genetic counselors can also provide emotional support as you make decisions and empower you with information for your overall health care.

How can someone find a genetic counselor? 

Your health care provider can help you find a local genetic counselor. A local genetic counselor can also be located on the National Society of Genetic Counselors website (findageneticcounselor.nsgc.org) by using the "Find a Counselor" feature.

What do you wish more people understood about genetic testing?

Genetic testing often cannot predict how severely the person will be affected with a given condition. Some people in the same family with the same genetic condition may have less or more severe symptoms than another affected family member. Also, negative genetic test results may not rule out a genetic cause of kidney disease. 

What are the next steps for someone interested in genetic testing? 

Speak with your health care provider or meet with a genetic counselor to determine if genetic testing is right for you. 

You can learn more about genetic testing on AKF's website.