Sep 21, 2020
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 kent.bressler@kidneysolutions.org
For more information on Kidney Solutions, visit them at www.kidneysolutions.org
Host: Kent
Bressler
Producer: Jason
Nunez