kidney.org
New York, NY (August 8, 2024) – The National Kidney Foundation (NKF) has released new comprehensive recommendations for the use of genetic testing in diagnosing genetic kidney diseases. The report, entitled “Advancing Genetic Testing in Kidney Diseases: Report from a National Kidney Foundation Working Group” was developed by an NKF Working Group co-chaired by Drs. Ali Gharavi of Columbia University Irving Medical Center and Nora Franceschini of the University North Carolina. The recommendations will be published in an upcoming issue of the American Journal of Kidney Diseases and represent a significant advancement in the integration of genomic medicine into nephrology practice. About 10% or more of kidney diseases in adults and about 70% of certain chronic kidney diseases in children are expected to be explained by genetic causes.
The manuscript offers detailed recommendations for the application of genetic testing in clinical settings, highlighting its potential to revolutionize patient care of genetic kidney disease by confirming genetic diagnosis and facilitating personalized treatment plans. This work aims to equip nephrologists with the necessary skills to order genetic testing and interpret and utilize the results effectively. Emphasizing the importance of specialized training, the recommendations call for the incorporation of genomics into nephrology fellowship programs and the development of continuing medical education modules.
“The integration of genetic testing into nephrology practice marks a transformative shift towards precision medicine,” said Dr. Joseph Vassalotti, Chief Medical Officer of NKF. “This report provides a clear path forward for nephrologists with algorithms for symptomatic and at-risk individuals as well as a road map for implementation of genetic testing, ensuring kidney specialists are well-equipped to offer the most accurate diagnoses and personalized treatments for their patients.”
The manuscript outlines a roadmap for advancing genetic testing in kidney diseases, emphasizing the need for further research, data sharing, and collaboration among healthcare providers, researchers, and policymakers. It sets a foundation for ongoing improvements in patient care and underscores NKF’s commitment to advancing kidney health through innovative medical practices.
Addressing ethical, legal, and social implications, the report discusses considerations such as the Genetic Information Nondiscrimination Act (GINA) and stresses the importance of informed consent and genetic counseling for patients. It also recognizes disparities in access to genetic testing, advocating for diverse population representation in genetic studies and proposing strategies to reduce biases, ensuring equitable access and interpretation of genetic tests.
The new recommendations also underscore the critical role of patient advocates and patient-led groups in raising awareness and promoting the uptake of genetic testing. This collaborative approach aims to empower patients and families to make informed medical decisions. The recommendations also include recommendations for genetic testing of living kidney donors, particularly those related to patients with known genetic kidney diseases or those carrying high-risk APOL1 alleles, to enhance donor and recipient decision making.
The full study is available at the AJKD website:
https://www.ajkd.org/article/S0272-6386(24)00871-0/fulltext
About National Kidney Foundation
The National Kidney Foundation is the largest patient-centric organization dedicated to the awareness, prevention, and treatment of kidney disease. It is revolutionizing the fight to save lives by eliminating preventable kidney disease, accelerating innovation for the dignity of the patient experience, and dismantling structural inequities in kidney care, dialysis, and transplantation. For more information about kidney disease, please visit www.kidney.org/.
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Media Contacts:
Paul McGee, 716-523-6874 paul.mcgee@kidney.org