Mayo Clinic researchers have developed an innovative system called RENEW that leverages machine learning to aid in the diagnosis of rare diseases. In a recent study published in Human Genetics, RENEW successfully identified probable diagnoses for 63 out of 1,066 previously undiagnosed cases.
This semi-automated technology, launched in 2022, compares patients’ genomic sequencing data with the latest global research findings to pinpoint disease-causing genetic variants. With the majority of rare disease patients undergoing genomic sequencing remaining undiagnosed, the success of RENEW marks a significant breakthrough in providing much-needed answers and hope.
RENEW utilizes a sophisticated filtering system to analyze genetic information quickly and efficiently, significantly speeding up the diagnostic process. Typically taking just 20 seconds to review each prioritized genomic variant, RENEW offers a timelier alternative to manual reanalysis, which can take weeks of extensive research and data review.
Dr. Alejandro Ferrer, a Translational Omics Researcher at Mayo Clinic, emphasized the importance of advancements in technology to further enhance the interpretative process and extend the reach of this innovative diagnostic tool. Dr. Eric Klee, the mastermind behind RENEW and the center’s Associate Director, Research and Innovation, highlighted the potential for automation and efficiency improvements in genetic test data analysis.
Moving forward, Mayo Clinic aims to continue refining RENEW to make rare disease diagnosis more accessible and efficient. With its ability to provide rapid and accurate results, RENEW stands as a beacon of hope for individuals navigating the complexities of rare diseases.
