Medical genetics company Invitae announced today that it will offer all patients who have used its exome test routine, case-level reanalysis of the results every six months for at least three years to aid in providing answers for difficult-to-diagnose conditions. As the knowledgebase of the genetic causes of disease continue to rapidly expand, Invitae says the reanalysis will help some patients uncover links between their genomic variants and their health, based on new research.
“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,” says Robert Nussbaum, M.D., chief medical officer of Invitae. “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.”
The move to offer reanalysis makes Invitate one of the only companies offering such a service and comes as the American College of Medical Genetics and Genomics (ACMG) guidelines note that reanalysis of sequence data can increase by up to 20% the patients who receive relevant information that can lead to better clinical care or a diagnosis of their disease. Currently, Nussbaum notes, many patients can go years—the oft-mentioned diagnostic odyssey—without receiving an accurate diagnosis.
“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,” he adds.
According to Invitae, the service is built, in part, on the Moon software developed by Belgian company Diploid, which it acquired in March this year. The Moon software had demonstrated its ability to diagnose genetic disorders using next-generation sequencing data and other patient data in mere minutes.
Invitae’s AI approach prioritizes a patient’s most relevant variants based on clinical data provided by the patient. It then compares these variants to the continuously updated trove genetic data searching for variant-disease relationships. The company’s tool uses natural language processing tools and other technologies to regularly scan the scientific literature to collect new data on genetics and human disease.
The curated information provided by the automated systems fit seamlessly within Invitae’s validated and quantitative variant classification system, which expands on ACMG/Association for Molecular Pathology guidelines to ensure consistent and reproducible evaluation of variant pathogenicity.