Database of unsolved patient sequencing results yields new answers
Mayo Clinic launched an automated system called RENEW — reanalysis of negative whole-exome/genome data — in 2022 that tracks newly published discoveries of disease-causing genetic variants. Every three months, the system automatically uploads these new scientific findings from around the world, which are then compared to the Mayo Clinic Center for Individualized Medicine’s database of unsolved patient sequencing results. This comparison helps to identify potentially significant developments that could lead to a new diagnosis for a patient with a rare genetic disorder.
Emery Diffendorfer, 15, and Aiden Diffendorfer, 16, were among the first patients to receive a diagnosis because of new findings in the RENEW system. After extensive genomic sequencing 12 years earlier, they finally received a definitive diagnosis for their ultra-rare genetic disorder.