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New Orleans — Clinicians are not discussing genetic testing or counseling with the majority of patients with chronic kidney disease (CKD) in whom such testing is indicated, a new survey found.

Despite guidance published in Kidney International in 2020, and a 2024 report by the National Kidney Foundation (NKF) Genetic Testing Working Group, the survey showed that only 1 in 5 people with CKD in whom genetic testing was indicated reported that a healthcare provider had discussed either genetic testing or counseling with them.

“This study highlights the need for more discussion between providers and their patients about genetic testing for kidney disease,” said Radhika Patel, MD, of the Center for Precision Medicine and Genomics at Columbia University Irving Medical Center, New York City, and colleagues in a poster presented at the National Kidney Foundation (NKF) 2026 Spring Clinical Meetings.

Between 20% and 30% of CKD has a genetic basis, yet these are often underrecognized or not thoroughly investigated, the researchers pointed out. “There is a need for interventions to increase providers’ discussion about genetic testing for kidney diseases,” they added.

A Survey of NKF Patient Members

The survey was sent in November-December 2024 to all patient members of NKF who self-reported having kidney disease — either CKD, a prior kidney transplant, or prior acute kidney disease. A total of 1168 responded from 49 US states. Of those, 61.4% (717) had one or more indications for genetic testing, including a family history of kidney disease, extra-renal manifestations, or known qualifying diagnoses such as CKD or end-stage kidney disease of unknown etiology prior to age 50.

Of the 717 survey respondents with at least one indication for genetic testing, 65.1% (467) had a positive family history of kidney disease, 64.7% (464) had a clinical diagnosis for which there is a recommendation for genetic testing, and 27.3% (196) had extra-renal manifestations.

Of the initial 1168 survey respondents with kidney disease, 450 had no indications for genetic testing, 377 had one, 270 had two, and 70 had three. Of those, the proportions reporting that their doctor had discussed genetic testing/counseling with them were 11%, 16%, 25%, and 29%, respectively. “The likelihood of provider discussion increased with more indications but remained < 30% even with ≥ three indications,” Patel and colleagues noted in the poster.

Significant patient predictors of a provider discussion about genetic testing/counseling in the total survey population were age under 50 (vs over 50; odds ratio [OR], 2.39), male sex (vs female sex; OR, 1.45), and having private insurance (vs government insurance; OR, 1.21). There were no significant differences by patient race, ethnicity, or education level, contrary to some reports of genetic testing in other specialties, the authors noted.

Of all the survey respondents, only 8.6% actually had genetic testing done.

The reasons for the low rate of discussions and of testing itself aren’t entirely clear but are an ongoing research focus.

“I think that it is a combination of many factors. We [previously] showed that doctors don’t feel confident talking about genetics and they are worried about cost. We now found that patients are not aware that genetic testing is an option,” lead study author Hila Milo Rasouly, PhD, assistant professor of medical sciences in the Department of Medicine at Columbia University Irving Medical Center, told Medscape Medical News.

Benefits of a Genetic Diagnosis

Kidney disease is typically diagnosed on the basis of a low estimated glomerular filtration rate and/or protein or blood in the urine and abnormal findings on imaging, said Rasouly.

“Genetic testing is not a routine part of kidney care and indeed not necessary to establish a diagnosis of kidney disease. However, a genetic diagnosis can explain why someone develops the disease,” she said. More importantly, having a genetic diagnosis can also affect care, preventing the use of inappropriate medications as some diseases benefit from specific treatments, and it can inform the risk for recurrence, she added.

For example, take Fabry disease, which is often missed, said Rasouly, who was one of the authors of the NKF report. A genetic diagnosis in this case allows for effective enzyme replacement therapy. Another is Primary Hyperoxaluria type 1, for which a diagnosis enables the prescription of Lumasiran. A third example is primary coenzyme Q10 deficiency, for which early diagnosis can allow for the simple prescription of high-dose CoQ10 to preserve kidney function.

In addition, “germline genetic testing in nephrology can help identify eligible donors for transplantation, potentially expanding the pool of living donors. Genetic testing can [also] help identify at-risk relatives who could benefit from an early diagnosis — early therapy like SGLT2 inhibitors and GLP-1 receptor agonists have been shown to slow kidney function decline, delay the need for dialysis or transplantation, and prevent complications,” she explained.

Barriers to Genetic Testing

Asked to comment, Alexander Chang, MD, professor in the Departments of Nephrology and Population Health Sciences at Geisinger College of Health Sciences, Danville, Pennsylvania, told Medscape Medical News, said that the findings didn’t surprise him.

“There are a lot of barriers to genetic testing,” he told Medscape Medical News. “The field has advanced so rapidly that it really requires constant learning and education to keep up. It is very important for medical schools and residency programs to ensure genetics knowledge in every field is incorporated into curriculums.”

In addition, Chang said, “cost can be a big issue, and in some places, there may be some gatekeeping of who should order genetic testing. Fortunately, though, it seems access to genetic testing has been improving in nephrology.”

He agreed with Rasouly on the importance of genetic diagnoses. “Genetic testing when it is indicated is very important because there are some personalized treatments that can make a dramatic improvement of patients’ lives,” he said.

Chang, also a member of the NKF Genetic Testing Working Group, pointed out that genetic testing results are incorporated into a risk score for polycystic kidney disease that can be informative for risk and decision-making.

A noteworthy example of the necessity of genetic testing is if a patient who has had kidney failure for unknown reasons, which turn out to be genetic, has a kidney transplant from a family member, then it is possible that the family member also carries the genetic disease and will end up with kidney failure later, he said.

This study was funded by the National Institutes of Health. Patel and Rasouly reported having no disclosures. Chang reported receiving research funding from Vertex, Novartis, Boehringer-Ingelheim, and Bayer.

Miriam E. Tucker is a freelance journalist based in the Washington, DC, area. She is a regular contributor to Medscape, with other work appearing in the Washington Post, NPR’s Shots blog, and Diatribe. She is on X @MiriamETucker and BlueSky @miriametucker.bsky.social.