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prenatal testing

According to simulations and a study of large families presented at ASHG this week, current polygenic scores cannot accurately predict complex human traits.

The company published a quality assurance study for the Panorama test last month and is wrapping up the SMART study, which has enrolled 20,000 women.

For Everyone

In an opinion piece at the Nation, Sarah Lawrence College's Laura Hercher argues that everyone should be able to access prenatal genetic testing.

The acquisition will allow the firms to provide annotated biospecimens, as well as sequencing, bioinformatics, and lab services to hospitals and clinicians.

The companies will combine their respective technologies to develop mass spectrometry-based proteomics assays for adverse pregnancy outcomes.

A survey of more than 2,400 pregnant women found that their views on testing largely fell into four clusters, shaped by their thoughts on risk, ambiguity, and more.

Two new studies found that prenatal whole-exome sequencing could uncover clinically significant variants in an additional 8 to 12 percent of fetuses with structural anomalies.

What's in Store?

The Asbury Park Press reports on the startup Genomic Prediction's test to determine an embryo's risk of disease.

A randomized clinical trial from France revealed similar miscarriage rates in women who had cell-free DNA screening for trisomy 21 prior to invasive testing.

The $375 million deal marks the integration of Myriad, a leader in the hereditary cancer genetic screening market, with Counsyl, a leader in reproductive genetic screening.

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Russian CRISPR researcher moves along with plans to ultimately alter the genes of embryos of deaf couples, though awaits regulatory approval, Nature News reports.

University of California, San Francisco, researchers have uncovered a gene mutations that appears to make a father-son duo more efficient sleepers.

NPR reports a large health insurer has begun to cover some pharmacogenetic tests for psychiatric drugs.

In PLOS this week: genome-wide association study of non-syndromic orofacial cleft subtypes, epigenetic and transcriptomic analysis of pancreatic ductal adenocarcinoma, and more.