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Invitae Boosted Exome Sequencing and Interpretation Service

Invitae has launched an exome sequencing and interpretation service, called the Boosted Exome. Invitae believes this testing will be particularly useful in diagnosing rare pediatric diseases or providing insights into complex cases where doctors suspect a genetic disease but don't know which gene or alteration is involved. According to the company, the test analyzes 3 mL to 5 mL of whole blood (but can alternatively analyze saliva) and uses next-generation sequencing capture technology with boosted coverage of medically relevant genes. The exome test has the capability to analyze up to 20,000 protein coding genes, and also uses custom bioinformatics solutions for variant analysis, a phenotyping tool to prioritize relevant genes for analysis, and analytical solutions to identify other genes through inheritance patterns or functional impact. The data are interpreted by board-certified geneticists, and results are returned within six weeks to eight weeks. Parents have access to genetic counseling and doctors can confer with clinical consultants. Proband-only exome testing costs $2,500, while additional testing of one or both biological parents brings the cost up to $4,500.

The Scan

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Breast Cancer Risk Gene Candidates Found by Multi-Ancestry Low-Frequency Variant Analysis

Researchers narrowed in on new and known risk gene candidates with variant profiles for almost 83,500 individuals with breast cancer and 59,199 unaffected controls in Genome Medicine.

Health-Related Quality of Life Gets Boost After Microbiome-Based Treatment for Recurrent C. Diff

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Study Follows Consequences of Early Confirmatory Trials for Accelerated Approval Indications

Time to traditional approval or withdrawal was shorter when confirmatory trials started prior to accelerated approval, though overall regulatory outcomes remained similar, a JAMA study finds.