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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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The Wall Street Journal reports on gaps in COVID-19 testing affecting less affluent urban areas and rural locations.

According to NBC News, new SARS-CoV-2 variants are making it harder for researchers to model the course of the pandemic.

The New York Times reports that experts say President Joe Biden's goal of vaccinating 1 million people a day in the US in the next 100 days is too low a bar.

In Science this week: single-cell lineage tracing technique applied to study lung cancer metastasis, and more.