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Invitae Introduces Routine Exome Reanalysis to Help Patients Receive Diagnoses Faster

Artificial intelligence-powered technology helps bring the benefits of comprehensive clinical sequencing to patient care while maintaining exceptional accuracy and reproducibility

Invitae, a leading medical genetics company, announced all patients who undergo exome testing with Invitae will receive routine case-level reanalysis of their findings every six months for at least three years. Reanalysis ensures patients’ reports will be regularly updated based on new research about links between variants in their genes and their health — an essential step for people grappling with difficult-to-diagnose health problems.

The expanded service will draw on Invitae’s industry-leading genetic variant interpretation capabilities, which include an artificial intelligence (AI)-powered diagnosis engine and an up-to-date gene-phenotype database, and is coupled with review by a team of leading genetics experts. The combination provides accurate, reproducible, and unbiased exome interpretation. With the new reanalysis service, each patient’s genetic findings will be reanalyzed every six months so that any newly discovered and clinically relevant information can be used to help aid in diagnosis and guide proper disease management and treatment.

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Invitae will be one of the only laboratories to make sequential, case-level reanalysis standard for all patients who receive exome sequencing. The American College of Medical Genetics and Genomics (ACMG) considers ongoing reanalysis of sequence data to be critical, as it can increase the number of patients receiving information that is relevant to diagnosis or care by as much as 20 percent.

“Getting to an accurate molecular diagnosis as quickly as possible means patients can begin to receive appropriate management and therapy sooner, which is crucial, particularly in conditions for which early intervention can improve outcomes or in conditions with a significant recurrence risk to the parents of an affected child. Unfortunately, many patients go years before they are accurately diagnosed,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “New information on gene-disease relationships is discovered at a rapid pace in this fast-moving field, and each additional piece of information has the potential to benefit a patient. We want to ensure our patients and their clinicians have continually updated findings so we can help shorten the diagnostic odyssey for as many patients as possible.”

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Invitae’s AI-powered diagnosis engine prioritizes the most relevant variants in a patient’s exome based on next-generation sequencing genotype data and against clinical features provided by the patient. Variants are compared to a constantly updated database of gene-disease relationships, which leverages natural language processing and other technologies to continually and automatically scan scientific literature to curate the latest information on genetics and human diseases. The approach was built in part with technologies obtained in March 2020 through the acquisition of Diploid, a privately held Belgian company that developed Moon, AI software capable of diagnosing genetic disorders in minutes based on next-generation sequencing data and patient information.

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