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Invitae Pediatric, Neurological, and Rare Disease Test Expansion

Invitae has launched 42 new and 19 expanded genetic test panels as part of the company's pediatric, neurological, and rare disease offerings. The new offerings allow clinicians to gain information on 183 genes with clinical and diagnostic significance. The expanded offerings include comprehensive testing for epilepsy and epilepsy-related disorders; an expansion of panel testing for developmental disorders, overgrowth syndromes, skeletal disorders, and RASopathies/Noonan spectrum disorders; incorporation of the latest genetic findings for ciliopathies; and consolidation of clinical areas, enabling customers to order a broader set of tests that are relevant for the patient.

The Scan

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.

US Survey Data Suggests Ancestry Testing Leads Way in Awareness, Use of Genetic Testing Awareness

Although roughly three-quarters of surveyed individuals in a Genetics in Medicine study reported awareness of genetic testing, use of such tests was lower and varied with income, ancestry, and disease history.

Coral Genome Leads to Alternative Amino Acid Pathway Found in Other Non-Model Animals

An alternative cysteine biosynthesis pathway unearthed in the Acropora loripes genome subsequently turned up in sequences from non-mammalian, -nematode, or -arthropod animals, researchers report in Science Advances.

Mosquitos Genetically Modified to Prevent Malaria Spread

A gene drive approach could be used to render mosquitos unable to spread malaria, researchers report in Science Advances.