FAQs about genetic testing for kidney disease

What can I learn from genetic testing?

Genetic testing for kidney disease can help diagnose unknown causes of chronic kidney disease (CKD) and help identify changes in the genome that may increase CKD risk. Results from the tests can even help providers correct improper diagnoses. In addition, genetic testing can determine kidney disease severity. Identifying specific gene variants can help guide treatment for specific types of CKD as well as proper dosing of medications.

How does it work?

In order to perform the test, a sample of DNA is required, usually obtained through a saliva or blood sample. The cells from the sample are processed and analyzed in a database, obtained from Genome Wide Association studies (GWAS), of currently known genetic variants associated with CKD. These studies looked at multiple genetic variants and linked them statistically to specific kidney diseases in established patients.

Does genetic testing help diagnose specific kidney disease?

As mentioned above, genetic testing can help identify genetic variants associated with certain kidney diseases. However, carrying a genetic variant does not necessarily mean a person will develop the disease. Other factors can play a role in the genes’ ability to express themselves. Genetic tests should always be interpreted in consultation with an experienced nephrologist or genetic counselor.

Will these tests identify all genetic variants associated with CKD?

No, our knowledge about the genetic basis for CKD is still evolving. To date, mutations in more than 500 genes have been associated with different forms of kidney disease. The specific genetic mutations identified on the panel varies depending on the genetic testing company used. In addition, genetic testing cannot tell you everything about inherited diseases. Diet, lifestyle, and environment all influence how genes are expressed, a field known as epigenetics.  

Why do I need genetic testing for kidney disease if I am already doing regular physicals and lab checks?

Kidney disease is a silent disease and patients usually don’t develop symptoms until later stages of CKD. In addition to laboratory testing, genetic testing provides information for those at increased risk of CKD. Knowing your genetic risk provides you with an opportunity to modify your lifestyle in order to decrease the chance of kidney disease and failure in the future.

Is this test covered by my health insurance?

Depending on the test performed, your insurance may or may not cover a portion of the cost. Some small panel tests implemented by a few pharmaceutical companies are free. These companies hope to recoup the cost by identifying patients who will benefit from their products. In general, broad panel genetic tests are now much more affordable than they used to be.

Will I be discriminated against based on my results?

Federal law prohibits health insurance providers and employers from discriminating against a person based on genetic information. However, unfortunately, this law does not apply to long-term care, disability, or life insurance providers. It is crucial that you choose a testing company that values your privacy.

The Bottom Line

Genetics are one factor that plays a significant role in the development of kidney disease. Genome-wide association studies (GWAS) have identified several hundred genes that are associated with kidney diseases. Therefore, genetic testing may play a crucial role in the management of kidney disease patients.