Genetic testing and counseling for kidney disease

You and your doctor may decide to do genetic testing if: 

• You have a family history of kidney disease or kidney failure.
• You developed kidney disease before the age of 50. ​
• Other kidney disease treatments have not worked well to slow down kidney damage.  
• You are a member of a racial or ethnic group in which certain types of genetic kidney diseases are more common. One example is the APOL1 gene variants that can appear in people of African descent.  
• Your doctor suspects a genetic disease or change may be the cause of your kidney disease.

The decision to have genetic testing is personal. Your doctor can give you guidance and resources throughout the process, but you have the final say. 

The first step is to talk with your doctor about genetic testing. Your doctor can order the genetic test or send you to a genetic counselor. Usually, in genetic testing:  

Up to 3 in 20 people with chronic kidney disease do not know the cause of their disease. And some people may be diagnosed with the wrong cause of their disease. Knowing the cause of your kidney disease can help you and your ​health care team create a personalized plan to help you manage your disease.  

Many kidney diseases have a genetic cause, spanning from more common conditions like polycystic kidney disease (PKD) to more rare disorders such as Fabry disease. Identifying if there is a genetic cause is crucial as it helps to provide a more accurate diagnosis, ensuring that the treatment you receive is tailored to your specific condition. In addition, this can help you understand the progression of your disease over time. For example, some forms of kidney disease can get worse quickly and lead to kidney failure and some affect your kidneys at a slower pace. This will help you prepare for treatment options for your disease.  

Genetic testing can also help you understand a family history of kidney disease. Half of your genes came from your mother, and the other half from your father and it is possible they passed down a gene variant that causes kidney disease. Genetic tests can give providers more information on how the disease can be inherited or passed down from one generation to the next. Many patients find this information helpful, especially for family planning.  

Genetic testing could also help you see if you are eligible for a clinical trial. Clinical trials are research studies that study the effectiveness of new treatments. Clinical trials may help you learn more about your disease and gain access to new and possibly effective treatments or medicine available only to those participating in the trial.

Genetic testing is a useful tool in understanding why you have kidney disease, and it can guide providers in their treatment decisions. 

There are many kinds of genetic​ ​tests, but there is ​​no test that can detect all genetic conditions. Your doctor will choose the test or tests that are right for you. If you have questions about why they chose a test or about another kind of genetic testing, work with your provider to understand their decision.  

These are a few types of genetic testing:  

• Single gene tests look for any changes in one gene. Your doctor may use this test to confirm or rule out a specific cause of kidney disease. 
• Targeted single variant tests look for a specific change in one gene that is known to cause disease. Your doctor may use this to test your family members if they are looking for a specific kind of kidney disease.  
• Gene panel tests look for changes in many genes. Your doctor may use this test if they think you have a type of kidney disease caused by changes in multiple genes or if your symptoms match multiple kinds of genetic kidney disease.  
• Large-scale genetic tests look at all the genes in your DNA (whole exome) or all your DNA (whole genome). Your doctor may use this test if single gene or panel gene tests did not find a DNA change or they are unsure what caused your kidney disease.  
• Chromosomal tests look at whole chromosomes or long strands of DNA to find changes like extra or missing chromosomes or rearranged chromosomes. Your doctor may use this test if they believe that your disease is associated with chromosomal changes.  
• Biochemical tests look at the amount of proteins or protein levels in your blood (genes tell your cells to make proteins). If levels of proteins are unusual, this can signal to your doctor that a change in DNA is causing disease.  

There are some genetic tests you can buy yourself to test for certain conditions. Not all these tests are the same quality, and it is important to use your best judgement when ordering or taking a test you purchased yourself. These tests are not a diagnosis, and you should discuss any results with your health care provider.  

Genetic counselors are certified health care professionals with special training in genetics and counseling. You can meet with them before and/or after genetic testing to better understand available genetic testing options and genetic test results. 

A genetic counselor can: 

• Decide if genetic testing might be right for you  
• Choose the right kind of genetic test 
• Understand your genetic test results and treatment options  
• Understand what your results may mean for your family  
• Deal with emotions during the testing process  
• Refer you to other doctors, support groups or clinical trials  
• If you are interested in finding a genetic counselor, you can use the National Society of Genetic Counselors directory. 

The first session usually lasts 45 minutes to 90 minutes. The session can be in a doctor's office, hospital, genetics center or via telehealth (meeting through phones or video). You can attend by yourself, or you can bring someone with you. This may be helpful as they can listen, take notes, and ask questions.  

Before genetic testing, the genetic counselor will: 

• Ask you about your and your family's health history, particularly about kidney disease  

• Look at your medical records  

• Look at results from any tests you have had, such as blood and imaging tests  

• Talk about your genetic testing options, including costs, the testing process, benefits, and limits of the test  

If you do not want to proceed with testing, you can let the counselor know at any time. The choice is always up to you. 

Genetic test results tell you if you do or do not have genetic changes. The results include:  

• Positive, which means the test found a genetic change known to cause kidney disease.  
• Negative, which means the test did not find any of the genetic changes you were tested for. If you were not tested for all known genetic changes that cause kidney disease, you may need to have other genetic tests.  
• Uncertain, which means that the test found some genetic changes, but it's unknown at this time if those changes may or may not explain or cause kidney disease.  
• The results of genetic testing are not absolute. A positive result means that a genetic change linked to CKD has been found, it does not mean that you will definitely develop kidney disease. Similarly, a negative result does not guarantee you will never develop kidney disease. CKD can be caused by other health problems, including high blood pressure and diabetes. Your genetic counselor will help explain what your results mean and any steps you should consider taking.  

The results of genetic testing can:

• Help you and your doctor make treatment decisions 
• Give more information about how quickly your kidney disease may worsen so you can plan for future treatment 
• Help inform decisions about a kidney transplant 

Research on genes linked to kidney disease is advancing quickly. Researchers may find new genes linked to kidney disease over time, so talk with your doctor about new genetic tests that are available, even if you have had genetic testing in the past.

Genetic testing can answer questions you may have about your kidney disease, especially if you do not know the cause or have a family history of CKD. If your healthcare provider has not mentioned genetic testing, you can ask them if it is a good option for you.  

​Another option is to get genetic testing directly from a testing company instead of through your doctor. You will still need a doctor to sign off on these tests (similar to a prescription). Some people also choose to do this if their insurance does not cover the cost of genetic testing. ​You can order genetic tests from these companies, and they may also offer genetic counseling:  

• Natera Renasight™ is a gene panel test that tests 385 genes associated with chronic kidney disease. It uses blood or saliva.  
• Invitae Renal Disease Program offers over ten different kinds of genetic tests for rare kidney diseases, as well as tests for individual genes. 

You can also ask your doctor if there are any clinical trials you could join that include genetic testing.   

Genetic testing can not only help you understand how your DNA might impact your kidney health, but it can also help determine a more personalized treatment plan and let you know if your family members are at risk for kidney disease. Our guide answers questions you may have about genetic testing, working with genetic counselors, and more.

The cost of genetic testing can range from less than $100 to well over $2,000, depending on the type of genetic test. Many health insurance plans cover (pay for) the whole cost or part of the cost of genetic testing when your doctor recommends it.  

Before you have genetic testing, call your insurance company to ask about costs. You can start by asking these questions:  

• Does my plan cover treatment for kidney disease or kidney failure, genetic testing and counseling or other services you need?  
  • If yes, what services are covered? What services are not covered?
• What are the costs for my plan, such as my: 
  • Deductible? This is the amount you pay before insurance starts paying the costs.
  • Copay? This is the amount you pay each time you get a health care service, such as a doctor's visit or filling a prescription.
  • Out-of-pocket maximum? This is the most you will pay for covered services for the year. After you pay this amount, your insurance company will pay all of the costs of covered services.
• Do I need a referral to see a specialist? A referral is permission from your primary care doctor or insurance plan to visit another doctor.
• Do I need prior authorization before getting certain health care services? Prior authorization is permission from your insurance company before you get certain health care services, such as treatments or medical equipment. If you do not get permission before the services, your insurance may not cover the costs. It is also called preauthorization or prior approval.

A genetic counselor or social worker can talk with you about costs and insurance. They may know of programs that cover the cost of genetic testing if your insurance will not pay for it or you do not have insurance. Some genetic testing companies may offer financial assistance programs.  

Learn insurance tips and more questions to ask your insurance when looking for the cause of kidney disease. 

• What kidney diseases are genetic?  
  • There are more than 60 genetic diseases that are known to affect the kidneys. Some are common while some are rare. Some of these diseases include:  
    • Autosomal Dominant Polycystic Kidney Disease (ADPKD)  
    • Cystinosis  
    • Fabry Disease  
    • Alport Syndrome
    • Focal Segmental Glomerulosclerosis (FSGS) 
    • APOL1-Mediated Kidney Disease  
    • Primary hyperoxaluria (PH)