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carrier screening

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.

Good Start will serve as an in-network laboratory partner for a variety of genetic screening tests.

The goal is to develop a standardized education and credentialing process for healthcare personnel and to generate tools and resources to help pregnant women make prenatal genetic testing decisions.

The firm has screened over 71,000 patients and identified more than 3,000 carriers, up to 25 percent of whom would have been missed with traditional screening tests.

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New analyses indicate female researchers are publishing less during the coronavirus pandemic than male researchers, according to Nature News.

A study suggests people with the ApoE e4 genotype may be more likely to have severe COVID-19 than those with other genotypes, the Guardian says.

Direct-to-consumer genetic testing companies are searching for a genetic reason for why some people, but not others, become gravely ill with COVID-19, the Detroit Free Press reports.

In PNAS this week: forward genetics-base analysis of retinal development, interactions of T cell receptors with neoantigens in colorectal cancer, and more.