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 Mastermind,
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 Genomenon.com.