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ASN leads the fight to prevent, treat, and cure kidney diseases throughout the world by educating health professionals and scientists, advancing research and innovation, communicating new knowledge, and advocating for the highest quality care for patients.

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Kidney Week

Educational Symposium

Opportunities and Barriers in Diagnosing CKD of Uncertain Etiology

October 22, 2020 | 01:00 PM - 02:00 PM

Location: Simulive

Session Description

The incidence of CKD continues to rise globally, poses challenges to patients and providers in diagnosis and management, and impacts quality of life. The underlying etiology is not known in a significant number of cases as many patients are misdiagnosed or underdiagnosed. Complex interactions between genetic background and environment likely contribute to the uncertain etiology in CKD. Identifying ways to accurately diagnose CKD early, predicting rapid versus slow progressors to develop ESKD, and overcoming ethical barriers for genetic testing can potentially make a significant impact in early management and likely delay progression to ESKD.

Recent advances in genomic technologies and team science approaches have led to identification of several pathogenic or likely pathogenic variants in a number of genes associated with monogenic causes of kidney diseases. These studies inform on critical aspects of CKD development, progression, risk, and diagnoses. The community needs to be aware of the latest technological advances and limitations. This knowledge needs to be disseminated at a grassroot level, and approaches need to be developed to overcome barriers in technological implementation, community engagement, and ethical delivery of results, so the full potential of the emerging technologies can be realized. There also needs to be a dialogue of how to address or envision ways to broaden the scope of the technologies to go beyond monogenic causes so other complex etiologies of CKD can be unraveled and integrated with environmental factors.

This symposium discusses the challenges of CKD of uncertain etiologies and identifies barriers and interdisciplinary opportunities to make an impact to improve diagnosis and management.

Support is provided by an educational grant from Natera.

Learning Objective(s)

  • Describe the latest state of genomic technologies applicable to CKD diagnosis and opportunities in the future
  • Discuss ethical and other challenges in implementing genetic diagnosis in clinics and patient care

Learning Pathway(s)

  • Genetic Diseases of the Kidneys
  • Chronic Kidney Disease

Presentations