Episode 38: Payal Shah - Genetic Testing and Kidney Disease

Welcome back! In today's episode, Kent speaks with Payal Shah. She is a good friend and has become a regular guest on the Podcast. Payal received a Kidney Transplant at the age of 15 and is now a Doctor of Pharmaceuticals. Kent and Payal have a great conversation in regards to Genetic testing as it relates to Kidney Disease.  See links below to some (not-inclusive) companies that provide genetic testing for rare diseases that lead to End-Stage Kidney Disease: Disclaimer: Genetic testing and counseling should be done in partnership with a physician consult to determine if it is the best option for you and your family. - https://www.natera.com/organ-health/renasight-genetic-testing - https://www.invitae.com/en/chronic-kidney-disease/ - (EX-US) https://www.centogene.com/patient/disease-types.html -Centogene has provided a great PDF that lists questions to ask your physician regarding genetic testing: https://centogene.azureedge.net/fileadmin/pdf/Patients/Cheatsheet_V2eng_Print_Web_20200706.pdf - New England Journal of Medicine article that Payal referenced: Groopman EE, Marasa M, Cameron-Christie S et al. Diagnostic utility of exome sequencing for kidney disease. NEJM. 2018;doi:10.1056 https://www.nejm.org/doi/full/10.1056/NEJMoa1806891 Have a question for Kent? Send him an email at [email protected] For more information on Kidney Solutions, visit them at www.kidneysolutions.org Host: Kent BresslerProducer: Jason Nunez