Kidney Genetics

Chronic kidney disease is common, and for a meaningful share of people who have it, genetics plays a role, sometimes as the primary cause and sometimes as a contributing factor. Below, we walk through what genetic testing for kidney disease can find, and what a result — positive or negative — could mean for your care and your family.

Chronic Kidney Disease: A Quick Background

Chronic kidney disease (CKD) affects a substantial share of U.S. adults, and its risk factors include both those that are "modifiable" — meaning we may have some control over them, like diabetes, high blood pressure, and certain medication use — and those that are "non-modifiable," including family history and genetics. CKD is staged based on kidney function, and many people don't realize they even have kidney disease until it's already fairly advanced, since earlier stages often don't cause noticeable symptoms.

Why Genetics Is Increasingly Part of the CKD Conversation

Genetic testing related to kidney disease used to be considered only for a narrow set of clearly inherited conditions. That's changed. A 2022 KDIGO (Kidney Disease: Improving Global Outcomes) Controversies Conference report on genetics in CKD, together with a parallel set of clinical practice recommendations from the European Renal Association, both encourage nephrologists to "think genetic" earlier in the diagnostic process — taking a family history, noting the age of CKD onset, checking for features outside the kidney, and considering genetic testing — rather than only turning to it after other explanations have been ruled out.

What Genetic Testing Can Identify

A number of different genetic conditions can cause CKD. Some of the more commonly identified include polycystic kidney disease, or PKD (PKD1, PKD2), Alport syndrome and related conditions affecting the structure of the kidney's filtering units (COL4A3, COL4A4, COL4A5), and APOL1-associated kidney disease (see below). Beyond these more familiar examples, a genetic cause can potentially be found across dozens of other genes, particularly when CKD doesn't have an obvious explanation like long-standing diabetes.

In one large study of adults with CKD, genetic testing identified a cause in roughly 1 in 10 people overall, and notably more often among those whose CKD didn't have a clear explanation to begin with. Most people tested won't get a positive result, but for some groups, the odds of a meaningful finding are meaningfully higher.

APOL1 and Kidney Disease Risk

APOL1-associated nephropathy is one of the more common genetic contributors to kidney disease, and it disproportionately affects Black Americans. Two specific APOL1 gene variants are common in people with West African ancestry because they historically provided protection against a parasitic infection called trypanosomiasis (African sleeping sickness). That same protective effect comes with a tradeoff: people who carry two copies of these variants have a meaningfully higher risk of developing certain kidney conditions, including CKD and a condition called FSGS, compared to people who carry one copy or none.

Carrying a single copy of one of these variants is common and is not thought to meaningfully raise kidney disease risk on its own. A 2025 KDIGO Controversies Conference focused specifically on APOL1 concluded that routine, population-wide APOL1 screening isn't currently recommended, since a positive result doesn't yet point to a specific treatment for most people. Genotyping (testing specifically for these gene variants) an individual can still be clinically useful. For example, it can help guide follow-up, or, in particular, inform decisions around living kidney donation, where APOL1 status is now considered part of a thorough, personalized evaluation. APOL1 status can also be relevant for pregnancy risk assessment, since the high-risk genotype is also associated with increased preeclampsia risk.

How a Genetic Diagnosis Can Affect Your Care

Finding a genetic cause for kidney disease isn't just about having an explanation, though that alone matters to many people. Depending on what's found, a genetic diagnosis can shape your care in several ways:

• Pointing to a specific treatment, in the smaller number of conditions where a disease-modifying therapy exists
• Helping you avoid a treatment that wouldn't help and could cause harm — such as long-term immunosuppression for a genetic form of kidney disease it isn't designed to treat
• Clarifying the risk of the condition recurring after a kidney transplant
• Prompting screening for related health issues outside the kidney, such as intracranial aneurysm screening for certain polycystic kidney disease genes
• Informing reproductive planning, for those who are pregnant or considering pregnancy

Family History and Testing for Relatives

Many genetic kidney conditions run in families, so a genetic diagnosis often has implications beyond the person originally tested. If a genetic cause is identified, relatives may be able to pursue focused testing for that same specific finding (cascade testing), which is usually simpler and less expensive than the original broader test. This is also relevant for anyone being evaluated as a living kidney donor for a family member, since it can affect both donor safety and long-term outcomes.

What a Negative Result Does and Doesn't Mean

A negative genetic test result reduces, but doesn't eliminate, the chance that your kidney disease has a genetic basis. It may mean the responsible gene isn't included on the panel used, that it hasn't been discovered yet, or that a different type of testing would be more appropriate for your specific situation. A genetic counselor can help you understand what your particular negative result does and doesn't rule out.

You might consider a kidney-focused genetic counseling consult if you're wondering:

• I have kidney disease with no clear cause. Could genetics explain it?
• Kidney disease or kidney failure runs in my family. Should I be tested?
• I'm being evaluated as a living kidney donor and want to understand my genetic risk first.
• I already have a genetic kidney diagnosis and want to understand what it means for my family.
• I'm not sure if my situation fits, but I'd like to talk to someone about it.

What This Consult Doesn't Replace

A genetic counseling consult won't replace your nephrology care, and it isn't where decisions about dialysis, transplant listing, or living donor eligibility get made — those stay with your nephrology and transplant teams. What it can do is help you and your care team understand the genetic piece of the picture: whether a genetic cause fits your situation, what that could mean for other family members, and what questions are worth bringing back to your nephrologist.