Under a collaboration with GeneDx, Boston Children's has rapidly sequenced the exomes of 20 NICU babies and have arrived at a likely diagnosis in around 85 percent.
The partners are planning to conduct meta-analyses of shared exome datasets from patients with inherited neurological disorders.
Under today's deal, all of UC Health's medical centers will work with GeneDx and have access to more than 400 of the firm's tests for rare hereditary disorders.
GeneDx said it will contribute patient data and analytical tools to the UK's Deciphering Developmental Disorders study.
The company, which is part of Opko Health's BioReference Laboratories, recently hired a new managing director, who plans to expand the firm's market and testing portfolio.
Drug developers and genetic testing firms are contemplating how best to share variant classification data while protecting their commercial interests.
For many patients, the diagnosis led to a change in medical care or management, averted additional diagnostic tests, and facilitated family planning.
Magdalena Walkiewicz from Baylor College of Medicine and Carin Yates from GeneDx presented their labs' initial findings from exome sequencing of fetal DNA samples.
Direct-to-consumer genetic testing companies have offered to test families separated at the southern US border, but that raises ethical issues.
CNBC reports that confirming a positive result from 23andMe's BRCA health report can be expensive.
The New York Times reports on a project to develop a tree DNA database to uncover illegal logging.
In PLOS this week: links between gut microbiome and colorectal cancer mutations, targeted sequencing uncovers genetic susceptibilities to epilepsy in Koreans, and more.