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carrier screening

Cystic fibrosis carrier status often did not impact family planning decisions and was sometimes perceived as a risk to unaffected family members.

The study adds to a growing body of evidence suggesting that expanded carrier screening tests can better identify at-risk couples. 

The test was previously approved to detect and differentiate carbapenemase genes from bacterial isolates, and now has an expanded claim for testing directly from rectal swabs. 

Researchers are studying the impacts of implementing multi-gene preconception carrier screening in the Netherlands, where such testing has been prohibited. 

Genetic testing firm GenePeeks found discrepancies between carrier screening tests, although those firms found fault with its variant classification methods. 

The firm's CEO Ramji Srinivasan said the layoffs would help focus the company on developing relationships with clinicians and medical providers.

The study will evaluate GenePeeks' computational approach to assess reproductive risk compared to standard carrier screening in couples hoping to conceive a child.

GINA Goes to School

A boy's cystic fibrosis carrier status was revealed by a teacher to the parents of children with CF who then sought the boy's transfer to another school, leading to a lawsuit.

The firms found that NGS-based carrier screening is more cost effective than genotyping-based testing for 14 disorders and results in fewer affected births. 

Carrier testing results suggest that more than 25 percent of Sephardic, Mizrahi, and Persian Jewish individuals may also carry recessive disease-causing alleles.

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Novavax has begun a phase III trial of its SARS-CoV-2 vaccine, according to the New York Times.

Vox reports that the Trump Administration may limit student visas for individuals from some countries to two years.

The governor of New York says the state will conduct its own review of any SARS-CoV-2 vaccine, NPR reports.

This week in Science: Neanderthal Y chromosomes replaced by Homo sapiens Y chromosomes, and more.