Rare Genomics Institute, a nonprofit providing direct support to undiagnosed rare disease patients, announced on Rare Disease Day that they were able to diagnose a previously undiagnosed patient with the use of the Mastermind® Genomic Search Engine, a clinical decision support tool by Genomenon®.
The Patient Research Services of the Rare Genomics Institute has created an ecosystem of leading technology partners and genetic experts from top research institutions around the world to give patients pro-bono access to world-class genomic sequencing, data analysis and interpretation services. Often, Rare Genomics works with their partners and volunteer experts to re-analyze cases that have hit a dead end.
Rare Genomics partner Genomenon, a Big Data genomics company, uses Artificial Intelligence (AI) to connect the genetic mutations buried in 30 million medical research publications with patient data obtained from genetic sequencing. Using technology that wasn’t available just a few years ago, Genomenon puts the research for over 4.1 million genomic variants at the scientist’s fingertips to make sure that no stone is left unturned in providing a comprehensive diagnosis.
In a recent case, a patient had their whole exome sequenced and analyzed by a leading genetics laboratory as part of their long diagnostic odyssey. The lab was unable to find any clinically relevant genetic mutations that could provide a diagnosis. That was where Rare Genomics Institute stepped in; Dr. Lipika Ray, a computational geneticist on the Patient Research Services team, reanalyzed the patient's DNA, which included a search of the Mastermind Genomic Search Engine.
With , Dr. Ray was able to find a single research report in the scientific literature that matched the patient’s DNA data. The patient in the report shared similar symptoms with the patient being analyzed. With this finding, RG recommended that the patient be re-examined based on the diagnosis found in the scientific research.
Rare Genomics Institute | Genomenon, p.2
“I can say with certainty that without the findings obtained from Genomenon, I would not have been able to provide a diagnosis for this patient,” said Dr. Ray. “Sometimes there is only one research paper that can connect a patient’s DNA with a diagnosis. Searching through millions of research papers to find a patient’s genetic mutation can be like trying to find a needle in a haystack. With advanced AI techniques used by Genomenon, the needle can pop right into view.”
“This case is the perfect example of the innovative opportunities we try to bring to rare disease patients that have been fighting for so long with no answer,” said Romina Ortiz, COO Rare Genomics.
Find the complete diagnosis story on RareGenomics.org or .