When to Get Genetic Evaluation and Testing for Kidney Disease

If you’re considering genetic testing for kidney disease, you probably already know the kidneys play a big role in our health. They filter waste products, toxins, and excess water and salt from our blood to form urine. This process regulates blood pressure and fluid and electrolyte balances, impacting our muscles, nerves, and heart. They also help us produce red blood cells, metabolize Vitamin D and more.

Unfortunately, kidney disease is a real problem in the United States. It impacts 15% of the adults in our country. When caught early, kidney disease can be slowed or stopped. But, if kidneys fail, a transplant or dialysis will be needed.

Nephrology is the branch of medicine that focuses on kidney conditions and diseases. As in other areas of medicine, genetics can provide vital insights for nephrology doctors and patients. Genetic testing and evaluation can transform kidney disease diagnosis, treatment and prevention. So when should a medical geneticist involved?

Genetic Testing When You Have a Suspected or Diagnosed Kidney Disease

At SequenceMD, we believe strongly in genetic evaluation, genetic counseling and testing being standard nephrology care. Genetic testing and evaluation is important for all patients with kidney diseases, particularly for:

  • Cystic kidney disease, which is when cysts appear in or around the kidneys
  • Glomerulonephritis occurs when the parts of your kidneys responsible for filtering toxins, excess fluid, and waste are inflamed or damaged
  • Tubulointerstitial diseases, which affect the tubules in the kidney and the tissues around them

Kidney disease can have many symptoms. People with cystic kidney disease, for example, may have high blood pressure and blood in their urine. Or, when the filters in your kidney fail, protein can enter your urine. This protein leakage can lead to urine looking foamy. Excess water and waste products in your blood can cause swelling around your eyes, legs and ankles. Some kidney diseases also cause increased urination and electrolyte imbalances that result in muscle cramps. 

However, you can’t diagnose kidney disease solely from these symptoms. Blood and urine testing are the most common diagnostic tools. Depending on your symptoms, doctors may also order an ultrasound, MRI, CT scan or biopsy.

While underused, genetic evaluations are another way to reach a more certain and comprehensive diagnosis. Genetic findings, such as identifying PKD1 and PKD2 genetic mutations in autosomal dominant polycystic kidney disease (ADPKD), can be critical for accurately diagnosing the type of disease and determining the most effective care. 

Genetic analysis can confirm the presence of inherited kidney diseases, clarify prognostic outlooks, and enable doctors to personalize treatment plans. Moreover, genetic information can guide decisions on kidney transplantation and dialysis, significantly impacting patient outcomes.

Genetic Testing When You Have a Family History of Kidney Disease

If you have relatives who have had kidney disease or kidney failure, you should consider genetic testing even if you are symptom-free. Kidney disease can be hereditary, and around 90% of people with kidney disease don’t know they have it. Many symptoms don’t show up until the late stages of the disease.

Related blog: Learn the red flags of a genetic condition.

A genetic evaluation can reveal your risk for kidney disease and allow your doctors to create a plan for monitoring and preventative care. In the best-case scenario, a geneticist may catch a condition before symptoms begin. Proactive interventions — from diet and exercise changes to medication — may delay or prevent disease progression and improve overall outcomes. Getting a genetic test for kidney disease can also help you understand risks for current or future children.

A Future of More Personalized Medicine

Kidney disease has many nuances, and genetic testing and analysis is invaluable for disease diagnosis, management, prognosis and risk identification. By working together closely, nephrologists and geneticists can provide more holistic care to support kidney health and treatment. 

If you are seeing a nephrologist, talk with them about the benefits of seeing a medical geneticist and genetic counselor. Alternatively, you can ask your primary care provider about finding a genetic counselor near you.

If you’d like to talk with the genetics care team at SequenceMD, contact us anytime to discuss our evaluation and health management services.

Related blog: Learn about genetic kidney diseases