Genetic testing and counseling for kidney disease

Talk with your doctor about genetic testing to look for changes in your DNA that may have caused your kidney disease. DNA is found inside every cell in your body and carries information that gets passed from one generation to the next. DNA codes for different traits, such as eye color, body type and sex. Your doctor may also recommend genetic counseling, in which you talk with an expert to help you decide on genetic testing and to understand your test results and treatment options.  

What is genetic testing? 

Genetic testing looks for changes (mutations or variants) in your DNA, including changes in: 

• Genes, which are a part of your cells that contain DNA and tell your cells what to do 
• Chromosomes, which are the structures in your cells that contain your genes 
• Protein levels, which can be a sign of changes in your DNA 

There are types of kidney disease caused by changes in single genes, many genes and abnormal chromosomes.  

Why might I have genetic testing? 

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

• Your doctor suspects a genetic disease or change may be the cause of your kidney disease. Genetic diseases can be passed down from one or both parents to their child through genes, or it can happen during your life. 
• You have a family history of kidney disease or kidney failure. 
• 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 APOL-1 gene variants that can appear in people of African descent. 

How is genetic testing done? 

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: 

• You give a sample of any of these:
  • Blood
  • Saliva (spit), which can be an option for a newborn baby
  • Cheek swab, which uses a cotton swab to collect a sample of cells from the inside of your cheek
• Your sample is sent to a lab so it can be analyzed to look for specific changes in genes, DNA, chromosomes or proteins that may be the cause of your kidney disease.
• The lab sends the test results in writing to you or your doctor–this may take a few days to a few weeks.  
• You will review your results with your doctor or a genetic counselor. 

There are ways to advocate for yourself to get testing. One option is to get genetic testing directly from a testing company instead of through your doctor. Some people choose to do this if their insurance does not cover the cost of genetic testing. These companies offer direct genetic testing and may offer genetic counseling: 

• Invitae Renal Disease Program 
• Natera Renasight 

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

What are the different types of genetic tests 

Your doctor will choose the test or tests that are right for you: 

• 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. 
• Panel gene 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 many genes. 
• Large-scale genetic tests look at all the genes in your DNA (whole exome) or all your DNA, including chromosomes and protein levels. 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. 
• Biochemical tests look at the amount of proteins or protein levels in your blood (genes tell your cells to make proteins).  

What is genetic counseling? 

Genetic counseling is meeting with a genetic counselor, who is a health care professional with special training in genetics and counseling. This counselor can help you: 

• Decide if a genetic test might be right for you 
• Understand your genetic test results and treatment options 
• Deal with emotions during the testing process 
• Refer you to other doctors, support groups or clinical trials 

What happens during genetic counseling? 

The first session usually lasts 45 minutes to one and a half hours. The session can be in a doctor's office, hospital, genetics center or via telehealth (meeting through phones or video). 

Before genetic testing, the genetic counselor will: 

• Ask you about your and your family's health history 
• 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, what will happen, benefits and limits 

After genetic testing, the genetic counselor will: 

• Look at and explain your genetic test results 
• Explain how gene changes could or could not cause your kidney disease 
• Tell you the chances of passing a genetic change to your biological children 
• Talk about what to do next, such as your treatment options, joining a clinical trial, having follow-up tests or finding a support group 

A genetic counselor will help you decide what is right for you–they do not tell you what to do.  

Learn more about genetic counselors and search for one near you at the National Society of Genetic Counselors.  

What do the results of genetic tests mean? 

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 the changes are not known to cause kidney disease.  

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 

Can the results of my genetic tests be used against me? 

It depends. Genetic discrimination is when an employer or insurance company treats you differently because you have a genetic change that causes or raises your chance of a disease.  

There are laws to protect you against genetic discrimination. The federal Genetic Information Nondiscrimination Act (GINA): 

• Makes it illegal for health insurance companies to discriminate based on genetic test results, so they cannot deny you coverage or charge you more. 
• Makes it illegal for employers to discriminate based on genetic test results, so they cannot use results to make decisions about hiring or promoting you. But GINA does not apply to employers with less than 15 employees. 

Federal laws do not protect against genetic discrimination from other types of insurance, such as life insurance, disability insurance or long-term care insurance. State laws may protect against genetic discrimination from these other types of insurance.  

How much does genetic testing cost and does health insurance cover it? 

The cost of genetic testing can range from less than $100 to more than $2,000, depending on the type of genetic test. Many health insurance plans cover (pay for) 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? 
• 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.
• 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.

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

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