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An Abundance of Caution…

This post has been updated from a previous version, which incorrectly stated that Ryan White's house had been burned down.

Mike the Mad Biologist offers his take on a story that broke last week about a California school that ordered an 11-year-old boy with mutations in the cystic fibrosis gene to be moved to another district for fear that he is a health risk to other students, even though he is asymptomatic for the non-contagious disease.

According to reports in the San Francisco Chronicle and elsewhere, the boy's parents reported the result of his genetic test as part of his medical history "out of an abundance of caution," even though he has never required treatment and has tested negative on the sweat test that is the standard diagnostic for the disease.

Mike the Mad Biologist cites the case as an example of people behaving "stupidly and fearfully" and likens the situation to that of Ryan White, an 11-year-old hemophiliac who contracted AIDS through a blood transfusion in 1987 and was not only suspended from school, but had shots fired into his house.

He warns that the CF case highlights the risk that direct-to-consumer genetic testing could pose once it moves beyond its current base of "genetically savvy" early adopters.

While he notes that there are numerous benefits to DTC genetic testing, "the public health side of me, like the hedgehog, knows one very simple thing: people are f---ing morons. If there is a way to screw something up, or misuse it, they will. And regulations and guidelines, unless enforced ruthlessly, will not be followed (just look at how poor hand hygiene can be by hospital staff, who know better)."

The Scan

Study Examines Insights Gained by Adjunct Trio RNA Sequencing in Complex Pediatric Disease Cases

Researchers in AJHG explore the diagnostic utility of adding parent-child RNA-seq to genome sequencing in dozens of families with complex, undiagnosed genetic disease.

Clinical Genomic Lab Survey Looks at Workforce Needs

Investigators use a survey approach in Genetics in Medicine Open to assess technologist applications, retention, and workforce gaps at molecular genetics and clinical cytogenetics labs in the US.

Study Considers Gene Regulatory Features Available by Sequence-Based Modeling

Investigators in Genome Biology set sequence-based models against observational and perturbation assay data, finding distal enhancer models lag behind promoter predictions.

Genetic Testing Approach Explores Origins of Blastocyst Aneuploidy

Investigators in AJHG distinguish between aneuploidy events related to meiotic missegregation in haploid cells and those involving post-zygotic mitotic errors and mosaicism.