Monica Heger

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

The company, which spun out of the Netherlands Cancer Institute, has developed technology to identify promoters and enhancers.

The UCSF spinout aims to develop noninvasive tests to detect kidney injury for the transplantation field and to diagnose and monitor chronic disease.

A Personalized Medicine Coalition-funded study has found that NGS-based testing is moderately cost effective but that access to targeted treatments remains a hurdle. 

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

With funding from the Bill and Melinda Gates Foundation, the Biohub will help implement metagenomic sequencing for infectious disease projects in 10 countries.

Stakeholders discussed last year's decision by Palmetto to deny coverage for large respiratory panels and discussed the way forward for test developers and labs.

The researchers found that dark regions impact more than 700 protein-coding genes and also identified a novel mutation in a known Alzheimer's disease gene.

The team is now conducting additional studies of mNGS in plasma, as well as looking to reduce turnaround time by running the test on a nanopore sequencer.

In a pilot study, EMD Serono will have the genomes of lung cancer patients sequenced for research but participants will also gain access to their genomic data.