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More articles about Inherited Disease

The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.

The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.

Under the agreement, the companies plan to offer combined genetic and biochemical testing services out of Blueprint's clinical laboratory in Seattle.

The company provided updates on its newborn screening testing presence.

The firm it plans to offer from time to time units of its common stock, preferred stock, one or more debt securities, warrants, or rights to such securities in one or more series.

The national project has developed infrastructure for implementing genomics into clinical care and is now studying clinical utility and cost effectiveness.

The company is hoping to add outreach to make sure individuals who want counseling get it, and to better understand the reasons why others might not.

During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.   

Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.

The testing programs are financially supported by the drugmakers, and will allow Invitae to provide free testing and genetic counseling for rare inherited retinal disease and primary immunodeficiencies.

Invitae will perform genetic testing using a 58-gene panel and Horizon will provide financial support for the program aimed at improving diagnosis of the rare condition.

The direct-to-consumer firm offers whole-genome sequencing for under $1,000, along with specific reports on pharmacogenomics, health traits, and certain diseases.

The study aims to enroll 10,000 Floridians to have their exomes screened for variants indicative of familial hypercholesterolemia risk.

Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.

The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.

The assessment incorporates different ethnic backgrounds, but debate continues among researchers on the utility of polygenic risk scores for diabetes.

A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.

The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.

The company will use the money to launch its first product, Unity, a noninvasive prenatal test for recessively inherited single-gene disorders.

The addition of the Y chromosome detection will enable the firm to refine its already-approved MaternalFetalScreen T1 test to provide personalized risk assessment.

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Reuters reports that Germany is seeking to sequence 5 percent of patient samples that test positive for SARS-CoV-2.

23andMe and Medscape say primary care physicians are increasingly more comfortable with discussing direct-to-consumer genetic testing results.

The publisher of the Science family of journals will allow some authors to place peer-reviewed versions of their papers into publicly accessible repositories.

In Science this week: analysis of genome-wide association studies of chronic kidney disease, and more.