We can all agree that medicine is a tough job. Keeping people alive and well can’t be easy all the time, especially when there’s hidden characteristics at play that may not be immediately evident to the naked eye. Either direct through duplicity—a surprising amount of people lie to their doctors—but also through general ignorance.

Sometimes that ignorance extends beyond a patient not knowing the reason for his aches and pains is an undiagnosed ailment, but something deeper and more insidious than that, inherited in his genes. For special jobs like that we need special software, such as privately-held Diploid’s artificial intelligence (AI) program Moon, acquired by Invitae Corporation (NVTA.NYSE) today.

Moon’s state-of-the-art interpretation infrastructure gives the company the ability to quickly analyze and sort large amounts of raw genetic data and phenotypic information into useful reports, making the practice of medicine easier for patients and clinicians. One of the unseen benefits of the Moon AI is its ability to diagnose unforeseen genetic disorders in minutes.

“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,” said Sean George, co-founder and chief executive officer of Invitae.

Normally in order to interpret data from either exomes, or parts of a genome consisting of the DNA sequence and corresponding RNA transcript—think of it like picture and negative in photography—or while genome data, genetics need to identity one or two mutations responsible for the patient’s condition. That can be time intensive as there are usually thousands of sequences to sift through to find one or two that might suggest a mutation. Moon allows geneticists to upload their sequencing data, enter a patient’s symptoms and age of onset, and receive the potential causal variants in minutes.

Moon’s speed and accuracy are powered by A.I. algorithms, a proprietary gene-disorder model, and continuously updated database filled with genetic evidence. Invitae and Diploid have both successfully completed a pilot study of Moon’s performance and discovered that in 94% of the 1150 previously-solved exome cases, the causal mutation was found within the top three of Moon’s ranked list of sequence variants.

“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,” said Peter Schols, founder and chief executive officer of Diploid.

The potential real world benefits for patients, and the practice of medicine overall, are considerable. Rapid whole genome sequencing, interpretation and diagnoses has helped with the care of infants with genetic diseases in neonatal and pediatric intensive care units. Now because Moon can go from whole genome sequencing data to an answer in minutes, it can be used to provide rapid and accurate care for critically ill patients. Imagine if cancer patients could be properly diagnosed with Moon and then linked up to appropriate trials using Oracle’s (ORCL.NYSE) AI offering.

Under the definitive agreement, Invitae will acquire Diploid for approximately $95 million, consisting of $32 million in cash and $63 million in Invitae common stock based upon a trailing average trading price.

—Joseph Morton

Written By:

Joseph Morton

Joseph is a Vancouver-based author and journalist with both a communications degree and journalism diploma (and a few novels) under his belt. His joie de vivre is to spin difficult technical topics into more human-centric narratives. Buy him a coffee and he'll talk your ear off for hours about privacy issues, blockchain, cryptocurrency and martial arts. Don't talk to him if you're either a tomato, a bully, or if you're not a fan of either 1984 or Tender is the Night. No. You can still talk to him. Just be prepared to be told why you're wrong.

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Artificial Intelligence
Artificial intelligence
genetics diagnostics systems
Invitae Corporation
Moon AI
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