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carrier screening

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.

The NBSeq project will involve exome sequencing on some 1,600 newborn blood spot samples.

Signifikance's platform is currently used for analyzing and interpreting cancer variants but will soon support prenatal screening and testing as well.

The statement is a first step to educate clinicians and laboratories on the use of expanded carrier screening tests.

Sequenom CEO Bill Welch said at the JP Morgan Healthcare Conference that the company plans to bring "at least" three new laboratory-developed tests to market in 2015. 

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CBS This Morning highlights recent Medicare fraud involving offers of genetic testing.

Researchers find that many cancer drugs in development don't work quite how their developers thought they did, as Discover's D-brief blog reports.

Mariya Gabriel, a Bulgarian politician, is to be the next European Union research commissioner, according to Science.

In Science this week: a survey indicates that US adults are more likely to support the agricultural use of gene drives if they target non-native species and if they are limited, and more.