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Invitae Expanded Genetic Testing Menu

Invitae has expanded its genetic testing menu. It now offers more neurological tests, a greater number of pediatric and rare disease tests, and new inherited metabolic disorders and newborn screening confirmation. The expanded neurological testing includes more than 30 disorders, such as muscular dystrophies, myopathies, congenital myasthenic syndrome, and malignant hyperthermia susceptibility. The expanded pediatric and rare disease testing covers more than 60 disorders, including severe combined immunodeficiency, periodic fever syndromes, and 20 new rare diseases. The company's new inherited metabolic disorders and newborn screening confirmation covers the majority of metabolic diseases, plus a panel for the common congenital disorders of glycosylation. 

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.