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Diversification is a Good Thing

Daniel MacArthur follows up on Steven Pinker's NYT story about having his genome sequenced with a blog post on the diversification of consumer genomics. All four of the current consumer genomics companies have staked their claim, with 23andMe focusing on fun, deCodeMe on academics, Navigenics on medical accuracy, and Knome on boutique offering. A newcomer mentioned by Pinker piques MacArthur's curiosity: Counsyl, whose "universal carrier screen" will check parents to see if they carry genes that put their children at risk for more than a hundred serious diseases like cystic fibrosis and alpha thalassemia. "There's virtually no information out there in the public domain about Counsyl beyond a basic teaser site, but Pinker's description would suggest a new participant in the consumer genomics arena that falls heavily at the ‘medical’ end of the spectrum," MacArthur writes.

The Scan

Study Finds Few FDA Post-Market Regulatory Actions Backed by Research, Public Assessments

A Yale University-led team examines in The BMJ safety signals from the US FDA Adverse Event Reporting System and whether they led to regulatory action.

Duke University Team Develops Programmable RNA Tool for Cell Editing

Researchers have developed an RNA-based editing tool that can target specific cells, as they describe in Nature.

Novel Gene Editing Approach for Treating Cystic Fibrosis

Researchers in Science Advances report on their development of a non-nuclease-based gene editing approach they hope to apply to treat cystic fibrosis.

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.