The national project has developed infrastructure for implementing genomics into clinical care and is now studying clinical utility and cost effectiveness.
The British team believes its classifier can identify men who will need treatment within five years, minimizing the need of repeated checkups for low-risk patients.
During an NIH meeting, researchers from four newborn sequencing research projects discussed results of their studies and future implications.
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.