View Only-Comprehensive Genetic Testing Informs Diagnosis and Facilitates Management in Patients with Kidney Diseases-Slides

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On October 23, 2019, the University of Iowa Carver College of Medicine hosted the ACMG Genomics Case Conference on Comprehensive Genetic Testing in Patients with Kidney Diseases. The conference was aimed at providing education and resources for healthcare professionals involved in diagnosing and managing genetically influenced kidney diseases. The conference featured presenters such as Richard J Smith, MD, Christie P Thomas, MBBS, and Margaret E Freese, CGC, who discussed the clinical utility of genetic testing, clinical indications for testing, and the importance of pre-test counseling and consent.<br /><br />The conference also covered several case histories, highlighting the importance of genetic testing in making accurate diagnoses and informing patient management. The cases included patients with Focal Segmental Glomerulosclerosis (FSGS), Autosomal Dominant Polycystic Kidney Disease (ADPKD), and Atypical Hemolytic Uremic Syndrome (aHUS). Genetic testing played a crucial role in identifying the genetic variants associated with these kidney diseases and guiding appropriate treatment plans, including targeted therapies and the avoidance of unnecessary treatments.<br /><br />The conference also addressed challenges associated with genetic testing, such as the lack of distinguishing phenotypes, awareness of available tests, the choice of tests, and the expense of testing. The importance of genetic counseling, both before and after testing, was emphasized to ensure that patients had a clear understanding of the implications of their genetic test results.<br /><br />Overall, the conference highlighted the value of comprehensive genetic testing in diagnosing and managing kidney diseases and emphasized the need for continued education and resources for healthcare professionals in this field. A recording of the seminar is available on the ACMG Genetics Academy website for further reference.

Keywords

Genetic testing

Kidney diseases

Diagnosing

Managing

Targeted therapies

Genetic variants

Clinical utility

Healthcare professionals

Genetic counseling

Comprehensive testing