A new study reported that genes cause about 1 in 10 cases of chronic kidney disease in adults and identifying the responsible gene can impact treatment
An estimated 1 in 10 adults in the United States is suffering from chronic kidney disease. However, for 15% of patients with chronic kidney disease, the cause of kidney failure is unknown. Although DNA sequencing pinpoints the genetic disruption, it is not tested in a wide range of patients with chronic kidney disease. In this study, researchers used DNA sequencing to examine genetic kidney disorders in 3,315 individuals with various types of chronic or end-stage kidney disease. However, clinicians were unable to identify the cause of disease for 8.5% of these individuals. The findings of the study were published on December 26, 2018, in the New England Journal of Medicine.
The researchers found a genetic disorder responsible for about 9 percent of the participants' kidney problems and DNA testing reclassified the cause of kidney disease in 1 out of 5 individuals with a genetic diagnosis. Furthermore, DNA testing was able to pinpoint a cause for 17% of participants for whom a diagnosis was not possible based on the usual clinical workup. DNA results had a direct impact on clinical care for about 85% of the 168 individuals who received a genetic diagnosis and had medical records available for review.
Furthermore, around half of the patients were diagnosed with a kidney disorder that also affects other organs and requires care from other specialists. Moreover, 1.5% individuals learned they had medical conditions unrelated to their kidney disease, in all of these cases, the incidental findings had an impact on kidney care. The current study shows utility of DNA testing in people suffering from kidney disease. Another study led by Goldstein and Gharavi found that DNA testing in healthy individuals majorly overestimated the prevalence of kidney disease-associated genetic conditions.
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