Date: Nov 27, 2025
Time: 5:00 PM CET
Cystic kidney diseases are collectively one of the most common causes of advanced kidney disease and kidney failure. These conditions can be clinically heterogeneous and can occur sporadically or arise due to a genetic cause. Even in cases where a clinical diagnosis appears straightforward, identifying the specific genetic cause for individuals with cystic kidney disease can advance the understanding of potential disease progression, surveillance for extra-renal features, and further definition of familial risk, including targeting appropriate related living kidney donors. In this webinar, Alicia Scocchia, MS, CGC will review the use of genetic testing in individuals with cystic kidney disease and pose considerations for genetic test selection, based on published literature and the experience of Blueprint Genetics.
Webinar objectives:
- Define the monogenic contribution to cystic kidney disease and review the value of genetic testing for this clinical indication
- Summarize key findings from a retrospective study of patients receiving panel testing at Blueprint Genetics and compare them to recent literature
- Discuss features to consider when assessing panel test options for cystic kidney disease
Unable to attend live? By registering, you will receive a link to a recording of the webinar for you to watch at your convenience.
Speakers
Alicia Scocchia
Alicia Scocchia, MS, CGC, LGC, attended graduate school at Sarah Lawrence College (MS in Human Genetics). She previously counseled patients clinically with a focus in oncology and population genomics as well as performed interpretation, reporting, and client support for a clinical whole genome sequencing test intended for patients with rare disease. Currently, she is Clinical Liaison at Blueprint Genetics based in San Diego, CA.