A new study found that genes cause about 1 in 10 cases of chronic kidney disease in adults, and the identification of the responsible gene has a direct impact on treatment for most of these patients.
"Our study shows that genetic testing can be used to customize the diagnosis and management of kidney disease and that nephrologists should consider incorporating it into the diagnostic process for these patients," says Ali Gharavi, MD, head of nephrology at Columbia University Vagelos College of physicians and surgeons and a co-senior author of the study.
The results were published on December 26th in New England Journal of Medicine.
It is estimated that 1 in 10 adults in the United States have chronic kidney disease. However, for 15% of patients with chronic kidney disease, the underlying cause of renal failure is unknown.
"There are multiple genetic causes of chronic kidney disease and treatment can vary depending on the cause," says Gharavi. "But many of the genetic types are rare and can be difficult to detect with traditional diagnostics.
And since kidney disease is often silent in the early stages, some patients are not diagnosed until their kidneys are close to failure, making it more difficult to find the underlying cause. "
DNA sequencing has the potential to detect genetic culprits but has not been tested in a wide range of patients with chronic kidney disease.
"Our study identifies chronic kidney disease as the most common adult disease, outside of cancer, for which genomic testing has been clinically shown to be essential," says David Goldstein, Ph.D., director of & # 39; Columbia University Institute for Genomic Medicine and a co-author of the study.
In this study, the researchers used DNA sequencing to look for genetic renal disorders in 3,315 individuals with various types of chronic or end-stage renal disease. For 8.5% of these individuals, doctors had not been able to identify the cause of the disease.
The researchers discovered a genetic disease responsible for about 9% of participants' kidney problems and the DNA test reclassified the cause of kidney disease in 1 out of 5 individuals with a genetic diagnosis. In addition, the DNA test was able to identify a cause for 17% of the participants for whom a diagnosis based on the usual clinical work-up was not possible.
DNA results had a direct impact on clinical care for approximately 85% of the 168 individuals who received a genetic diagnosis and had available medical records for review. "For several patients, the information we have received from DNA testing has changed our clinical strategy, as each of these genetic diagnoses presents a number of potential complications that must be carefully considered in the choice of treatments," says Gharavi.
About half of the patients have been diagnosed with kidney disease that also affects other organs and requires treatment from other specialists. Some (1.5%) people have learned that they had medical conditions unrelated to their kidney disease, in all these cases random discoveries have had an impact on kidney care. "For example, having a predisposition to cancer would change the approach to immunosuppression for patients with a kidney transplant," adds Gharavi.
"These results suggest that genomic sequencing can optimize the development of new drugs for kidney disease by selecting subgroups of patients who are more likely to benefit from new therapies," says Adam Platt, Ph.D., Director of Global Genomics Portfolio at AstraZeneca and a senior co-author of the study.
While the current study shows the usefulness of DNA testing in people with kidney disease, another study by Goldstein and Gharavi found that DNA testing in healthy individuals greatly overestimated the prevalence of genetic conditions associated with kidney disease.
"Overall, our research suggests that DNA testing can be more useful if balanced with clinical information," says Goldstein.
35 kidney genes linked to the risk of chronic kidney disease
The "Diagnostic Utilities of Sequencing Exome for Renal Disease" study was published in the New England Journal of Medicine.