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Invitae Immunologic, Metabolic, Newborn Screening Confirmation Panels

Invitae announced it has added 80 new panels and updated 24 panels for the diagnosis of inherited immunologic and metabolic disorders, as well as panels that confirm diagnoses suggested by newborn screening. Some of these offerings include new and updated lysosomal storage disorder panels covering 52 genes; an updated, 90-gene newborn screening confirmation panel; a new panel of 133 genes for diagnosing treatable neurometabolic disorders; a new panel of more than 200 genes linked to primary immunodeficiencies; and a new 46-gene panel for associated monogenic forms of inflammatory bowel disease. Additionally, the firm includes deletion/duplication analysis at no extra charge in an effort to identify between 5 percent and 10 percent of pathogenic variants that are difficult to gauge with next-generation sequencing. 

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.