Invitae Enhances Variant Interpretation Capabilities with Jungla Acquisition

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3D DNA strands on a technology abstract background

Medical genetics company Invitae announced that it will acquire Jungla, Inc., a provider of genetic variant clinical interpretation tools in a deal valued at approximately $50 million—comprising $35 million in Invitae stock and $15 million in cash.

The deal will strengthen Invitae’s existing suite of genetic variant interpretation with the addition of Jungla’s cloud-based platform that leverages clinical data with advances in the areas of functional genomics and biophysics using the latest machine learning techniques. Separately, Invitae also announced it has added RNA testing to its menu of services, with a first focus on cancer testing.

“Whether incorporating computational and experimental approaches for protein analysis or adding RNA analysis to augment variant interpretation, we lead the molecular genetic testing industry in leveraging advanced clinical genetic variant interpretation technologies that enable us to provide patients and clinicians with genetic information to inform healthcare decisions,” said Sean George, co-founder and chief executive officer of Invitae in a press release announcing the deal.

Jungla’s core technology is its Functional Modeling Platform (FMP), which the company describes as a machine learning-based platform “that enhances clinical knowledge by continuously integrating functional, structural and computational data into auditable and accurate predictive models for clinical variant interpretation.”

Invitae said that will combine the use of FMP along with that of its existing technology called Sherloc (semiquantitative, hierarchical evidence-based rules for locus interpretation), which provides clinical guidance based on genetic variants that exceed the guidelines of American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) for hundreds of genes and conditions. The ultimate goal, the companies said, is to deliver more precise and informative gene variants interpretations.

The acquisition comes roughly eight months after a joint four-month pilot study conducted by Invitae and Jungle to evaluate the performance of Jungla’s interpretation technologies in predicting the clinical relevance of genetic variants found in people undergoing genetic testing for hereditary disease. Notably, the study showed that Jungla’s technologies were able to help clarify variant interpretation allowing them to be classified as pathogenic versus benign.

According to Carlos Araya, co-founder and chief executive officer of Jungla, FMP and Sherloc are complementary technologies that can help improve the interpretation of variants with clinical significance and do it at scale.

“Combining our learning engine with Invitae’s rigorous interpretation framework will extend the reach of our technology and help more patients and clinicians get the information they need,” said Ayala in a prepared statement.

In addition to the Jungla purchase, Invitae simultaneously announced the launch of supplemental RNA service that focuses on RNA analysis and RNA-seq to provide qualitative and quantitative evaluation of messenger RNA (mRNA). The quantitative analysis will provide more information on the disease-variant relationship than can be deduced using qualitative analysis alone.

“The addition of RNA analysis to our variant classification pipeline provides another tool to reduce the number of variants that cannot be confidently classified based on DNA sequencing alone,” said Robert Nussbaum, chief medical officer of Invitae. “By applying this technology first to those cancer genes and variants where it is most immediately useful, we can provide deeper, more complete genetic information for patients and clinicians making critical clinical decisions.”

The RNA analysis service is now a part of Invitae’s VUS (variants of unknown significance) resolution program, initially offered for the company’s cancer syndrome gene testing, with a rollout to other disease areas planned for later this year.

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