The following is a summary of “Renal Genetics Clinic: 3-Year Experience in the Cleveland Clinic,” published in the February 2023 issue of Kidney Medicine by Tan et al.
The services offered by a renal genetics clinic are in high demand. In the United States, these initiatives are uncommon outside of genomics labs. Instead, researchers provide data from a single-center renal genetics clinic over three years. Between January 2019 and March 2022, the Cleveland Clinic’s renal genetics clinic had outpatient cases. Researchers looked at clinical and analytical parameters. Clinical laboratories were used for all genetic testing.
There were 309 new patients evaluated, with an average age of 35.1 ± 20.3. There were 118 males and 191 females. Nephrolithiasis and tubulointerstitial illnesses were the second and third most common causes of kidney failure after glomerular diseases. Twenty-seven patients, or 8.7%, had dysmorphic traits. Exome sequencing (17.5%), single-gene tests (19.5%), multigene panels (77.3%), and chromosomal microarrays (8.9%) were all indicated for 292 (94.5%) individuals.
Genetic testing was covered by insurance for 80.5% of patients. In total, 45% of patients (115/256) had positive results, 25% had variations of unclear significance (64/256), and 22% had negative results (57/256). There were 43 different monogenic diseases identified. Positive genetic findings were more likely to occur when there was a family history of kidney illness, which was present in 52.8% of patients (OR, 2.28; 95% CI, 1.40-3.74). New diagnoses and/or changes in diagnoses were given to 69% of patients with good results. There was a notable shift in how their condition was treated for 39.7% of these patients (31/78).
Single-center, retrospective analysis. Patients with inherited kidney disorders are in good hands at the renal genetics clinic, pivotal in diagnosis and treatment. Multigene panels are the gold standard for high-yield diagnostic testing. Those with a family history of kidney problems should be referred to a renal genetics clinic.
Source: sciencedirect.com/science/article/pii/S2590059522002187
