DNA sequencing could soon become part of the routine diagnostic workup for patients with chronic kidney disease, suggests a new study from Columbia University Medical Center (CUMC). The researchers found that DNA sequencing could identify the genetic cause of the disease and influence treatment for many patients with chronic kidney disease. The study was published online on December 4, 2017 in the Annals of Internal Medicine. The article is titled "Whole Exome Sequencing in Adults with Chronic Kidney Disease: A Pilot Study." An estimated 14 percent of people in the United States have chronic kidney disease, and between 10 and 25 percent of these individuals have a family history of kidney problems. Diagnosis typically relies on clinical, rather than genetic, evidence. Even with a kidney biopsy, it can be difficult to identify different subtypes of the disease. As a result, the precise cause of kidney failure often remains unknown. "Because CKD is usually silent in the early stages, it may not be detected until an individual develops severe kidney problems," said Ali G. Gharavi, MD, Professor of Medicine and Chief of the Division of Nephrology at CUMC. "At that stage, the patient may be sent to a variety of specialists in order to identify the type and cause of the disease and determine the best treatment. In this study, we hypothesized that genomic testing would help us answer these questions, without sending patients on a time-consuming, and often frustrating diagnostic odyssey." The researchers performed whole exome sequencing--a technique used to analyze DNA from the protein-coding portion of the genome--in 92 adults with kidney disease. More than half had a family history of kidney problems. Most had been given a clinical diagnosis, but 16 individuals did not know the cause of their disease.
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