Study: Renal genetics clinic provides diagnostic, patient management benefits
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Renal genetics clinics can significantly benefit patients looking for a diagnosis of genetic kidney disease or assistance with managing the disease, according to data published in Kidney Medicine.
Further, investigators found multigene panels are the most used testing modality with a high diagnostic outcome.
“With advances in genetic diagnostic technology, particularly next-generation sequencing and chromosomal microarray, genetic testing is becoming more accessible and affordable for patients and families with suspected genetic kidney disease,” Xin Yee Tan, MD, from the department of kidney medicine at Cleveland Clinic, and colleagues wrote. They added, “There is an increasing demand for renal genetics clinics, and relatively long-term studies in Australia, England and Ireland have demonstrated multidisciplinary renal genetics clinics improve the patient diagnosis and management outcomes, but only a few medical centers have this service available in the United States.”
In a retrospective cohort, researchers examined data of 309 new patients (118 were men and 191 were women) referred to the renal genetics clinic of the Cleveland Clinic between January 2019 and March 2022 to determine the value of genetic evaluation, testing modalities and indicators for referral to renal genetics clinics. Data included clinical and laboratory characteristics, in addition to genetic testing conducted in clinical labs.
There were five physicians, including two additional nephrologists; two additional medical geneticists; three genetic counselors and one molecular laboratory geneticist at the Cleveland Clinic. Patients were seen first by a genetic counselor, then a physician before being tested by a genetic counselor. Genetic testing included chromosomal microarray, single-gene test, multigene panel and exome sequencing. Both the physician and genetic counselor provided an interpretation of the genetic testing results before the results were presented to the patient by the counselor.
Overall, the leading presenting conditions were glomerular diseases, cystic kidney diseases, electrolyte disorders, congenital anomalies of kidneys and urinary tract, nephrolithiasis and tubulointerstitial kidney diseases. Genetic counseling had been recommended to 94.5% of patients. The counseling included chromosomal microarray (8.9%), single-gene tests (19.5%), multigene panels (77.3%) and exome sequencing (17.5%).
Notable findings included 45% of patients having positive results, 25% having variants of unknown significance and 22.3% having negative results. Additionally, 69% of patients who received positive results also got a new diagnosis and/or a change in diagnosis.
Following the experience of a renal genetics clinic, researchers concluded it played an important role in the diagnosis and management of patients with genetic kidney diseases.
“Further expansion of the utilization of genetic testing in kidney diseases will be primarily contingent on clinician awareness and patient access to testing modalities,” Tan and colleagues wrote. “Future investigation into diagnostic algorithms in different renal genetics patients, such as children vs. adults and Black vs. non-Black patients, will be much needed to guide the practice of the renal genetics clinic.”
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