With machine learning and clinical natural language processing, the team has come up with more automated methods to do provisional diagnoses on children with genetic disease.
Researchers plan to compare rapid whole-genome sequencing with standard diagnostic methods in 200 critically ill newborns.
The assay monitors mutations across a patient's genome and matches them to mutations found in a patient's resected tumor and in DNA in the bloodstream.
The consortium plans to develop recommendations on the best practices for implementing clinical whole-genome sequencing for rare genetic disease diagnosis.
NorthShore University HealthSystem is among the first of many interested in implementing genetic testing and tracking the population health impact, according to Color.
The company also said it will release its first polygenic risk score for cardiovascular disease early this year.
While the New York Genome Center says whole-genome cancer sequencing is the future, companies already offering such tests are struggling to get paid.
The test is the first whole-genome-based cancer test to receive approval from New York State's Department of Health.
Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.
The framework, called HEAL, could be used as an early screening test for AAA and as a personal health management tool. In addition, it may be applicable to other complex diseases.