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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

Study Tracks Responses in Patients Pursuing Polygenic Risk Score Profiling

Using interviews, researchers in the European Journal of Human Genetics qualitatively assess individuals' motivations for, and experiences with, direct-to-consumer polygenic risk score testing.

EHR Quality Improvement Study Detects Demographic-Related Deficiencies in Cancer Family History Data

In a retrospective analysis in JAMA Network Open, researchers find that sex, ethnicity, language, and other features coincide with the quality of cancer family history information in a patient's record.

Inflammatory Bowel Disease Linked to Gut Microbiome Community Structure Gradient in Meta-Analysis

Bringing together data from prior studies, researchers in Genome Biology track down microbial taxa and a population structure gradient with ties to ulcerative colitis or Crohn's disease.

Ancient Greek Army Ancestry Highlights Mercenary Role in Historical Migrations

By profiling genomic patterns in 5th century samples from in and around Himera, researchers saw diverse ancestry in Greek army representatives in the region, as they report in PNAS.