Investigating Genetic Testing for Chronic Kidney Disease
Significance of Kidney Functions
The kidneys perform essential functions such as filtering blood, regulating fluid balance, controlling blood pressure, producing red blood cells, and metabolizing vitamin D for bone health. However, in patients with chronic kidney disease (CKD), these functions gradually decline. Initially, individuals may not exhibit symptoms, but as kidney function worsens, they may experience symptoms like swollen ankles, breathlessness, fatigue, dark urine, and decreased mental alertness.
Importance of Accurate Diagnosis
Chronic kidney disease often arises from conditions like high blood pressure or diabetes; however, approximately 15% of patients have undetermined underlying causes. While there are numerous genetic factors associated with kidney disease, traditional medical tests may struggle to diagnose these conditions. Accurate diagnoses are pivotal, as they directly influence patient management and treatment strategies.
Research Findings from Columbia University
Researchers at Columbia University in New York explored the role of genetic testing in uncovering the underlying causes of chronic kidney disease. Their findings were published in the New England Journal of Medicine. The study involved DNA sequencing of more than 3,300 patients with various forms of CKD participating in two clinical trials: the AURORA study and the Columbia University Medical Center (CUMC) Genetic Studies of Chronic Kidney Disease. Notably, 8.5% of these patients had unidentified causes of their condition.
Overall, the researchers identified a genetic cause of chronic kidney disease in approximately 9% of the tested patients. DNA testing revealed a genetic origin in 17% of cases where the cause had previously eluded traditional diagnostic methods. Moreover, around 85% of the 168 patients receiving a genetic diagnosis experienced changes in their treatment plans. About half were diagnosed with kidney disorders that impacted other organs, while approximately 1.5% had unrelated conditions.
The Role of DNA Testing in Treatment Decisions
This study highlights the potential advantages of DNA testing for patients with chronic kidney disease. Genetic sequencing can assist healthcare providers in determining optimal treatment approaches. Looking ahead, it may also help identify patients who are most likely to benefit from emerging therapies. However, the researchers noted that a separate study indicated that DNA testing in healthy individuals often overestimated the prevalence of kidney-related genetic issues.
Dr. Goldstein, a co-author of both studies, remarked, “Altogether, our research suggests that DNA testing may be most useful when balanced with clinical information.”
References
Groopman EE, Marasa M, Cameron-Christie S, et al. Diagnostic utility of exome sequencing for kidney disease. New Engl J Med 2019;380:142-51.
Columbia University Irving Medical Center. 26 Dec, 2018. For patients with kidney disease, genetic testing may soon be routine. https://www.eurekalert.org/pub_releases/2018-12/cuim-fpw122118.php