Diploid has developed Moon, a software solution that deploys artificial intelligence (AI) technology for diagnosing genetic disorders

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Moon offers speed and accuracy in genetic diagnoses. (Credit: Pixabay/Arek Socha)

US-based a medical genetics company Invitae has acquired Diploid, a Belgian genomic diagnostics firm that develops tools for diagnosing rare diseases, for approximately $95m.

Diploid has developed Moon, a software solution that deploys artificial intelligence (AI) technology for diagnosing genetic disorders, by leveraging advanced sequencing data and patient information.

Invitae said that the addition of Moon to its advanced variant interpretation infrastructure will expand its capability of converting large volume of genetic data and phenotypic information into actionable reports for patients and clinicians.

Invitae co-founder and chief executive officer Sean George said: “The addition of Diploid’s software to Invitae’s best-in-class variant interpretation platform will provide an immediate increase in throughput, improving the customer experience and lowering COGS for our exome offering, further extending the advantage of Invitae’s platform to the benefit of clinicians and their patients.

“More importantly, this technology will help us accelerate progress toward the routine use of whole genome sequencing in addition to panel and exome testing, ultimately helping more patients get the diagnosis they need, sooner.”

Diploid developed Moon using sequencing data and patient information

Geneticists are required to identify one or two mutations among thousands of sequence variations, which are responsible for the patient’s condition, while interpreting the whole genome data.

Moon is said to allow geneticists upload advanced sequencing data, feed patient’s symptoms and age of onset and the causal variants within minutes. It uses AI algorithms, gene-disorder model, and a continuously updated genetic evidence database to achieve speed and accuracy.

Invitae and Diploid have jointly conducted a pilot study of Moon, which demonstrated that 94% positive results in the 150 previously-solved exome cases

The company said that Moon offers speed and accuracy in genetic diagnoses, and has real-world benefits for patients. Its quick whole genome sequencing, interpretation and diagnoses would play crucial role in care of infants with genetic diseases.

Diploid founder and chief executive officer Peter Schols said: “We are dedicated to building the best medical genetics diagnostic system in the world. With Invitae we are joining like-minded scientists creating a world-class genetic interpretation framework at scale.

“By bringing these technologies together, we can help more patients benefit from in-depth genetic sequencing to move from searching for answers to finding a diagnosis and discussing treatments that can help.”

The total consideration for the acquisition is comprised of $32m in cash and $63m in Invitae common stock.