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Congenica Automation

Congenica has updated its clinical decision support platform by launching the Automated Classification of Known Variants product, Congenica Automation. This will provide automated classification as well as evidence and reporting of recurrent 'known' variants that customers observe in their rare disease cases. The new product aims to reduce interpretation and reporting time by 90 percent compared to the company's existing solution, so complex genomic data can be reported in as little as 5 minutes. For example, interpretation and reporting of 4,000 cases with recurrent pathogenic or likely pathogenic variants could be completed in 5 to 8 minutes for each case. Users of the new product can also create their own customized curated variant list to be used for the automated process.

The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.