News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
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 startup's first test focuses on diagnosing 60 conditions for which treatment is available.
A panel led by the FH Foundation recommends routine genetic testing for those with very high LDL cholesterol and a family history of high cholesterol or early heart attack.
The Garvan team has shown that whole-genome sequencing can diagnose more cases than targeted panels and is now demonstrating its cost-effectiveness.
As part of the collaboration, B. Braun China founded a subsidiary, called B. Braun Precision Medicine Technology (BBPM), that opened in Shanghai in May.
