Mayo Clinic Reanalysis Technology Helps Move Undiagnosed to Diagnosed

Rare Daily Staff

Researchers at the Mayo Clinic Center for Individualized Medicine said a semi-automated system to rapidly reanalyze unresolved rare disease cases has led to a probable diagnosis for a number of patients.

The REanalysis of NEgative Whole-exome/genome data, or RENEW technology, launched in 2022, led to a probable for 63 patients out of 1,066 cases, the researchers reported in a study published in the journal Human Genetics.

The RENEW technology regularly compares patient genomic sequencing data with newly published global research discoveries, with the goal of identifying disease-causing genetic variants whose significance was not previously understood.

RENEW sifts through the new genetic information to help zero in on the pathogenic variant or variants causing a patient’s disorder. On average, it took RENEW about 20 seconds to review each of the 5,741 genomic variants it prioritized.

The total analysis time for each patient with an unresolved case ranged from 10 seconds to 1.5 hours. In contrast, manual reanalysis by researchers and clinicians typically takes weeks and involves an extensive review of published papers and scouring patient data in the search for clues.

“Considering that the majority of patients with rare diseases who undergo genomic sequencing remain without a diagnosis, this is no small accomplishment,” says Alejandro Ferrer, a translational omics researcher at the Mayo center and lead author of the study. “Each successful diagnosis facilitated by RENEW signifies a profound breakthrough in providing answers and hope to people navigating the complexities of rare diseases.”