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Invitae Carrier Screen

Invitae has launched several genetic carrier screening products. The Invitae Comprehensive Carrier Screen uses next-generation sequencing to analyze 287 genes linked to serious genetic disorders and identifies more than 99 percent of disease-causing changes in most of the genes analyzed. In addition, the company offers a 46-gene test, called Invitae Broad Pan-Ethnic Carrier Screen, that assesses a smaller set of common disorders, and a test called Invitae Pan-Ethnic Carrier Screen that analyzes three genes associated with cystic fibrosis, spinal muscular atrophy, and fragile X syndrome. Both of the smaller panels can be supplemented with a customized set of genes from the large panel and with 13 genes not included in any pre-curated panel. The Invitae Carrier Screen replaces the GeneVu carrier screen from Good Start Genetics, which Invitae acquired last year.

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.