Julia Karow

The research study, run by Genomics England in collaboration with the UK's National Health Service, plans to sequence the genomes of 100,000 newborns.

The €700 million project will pilot diagnostic genomic testing for cancer and rare diseases for at least five years, but private labs cannot participate.

So far, 90 out of 836 or about 10 percent of families who were analyzed by short-read genome sequencing as part of Solve-RD have received a diagnosis.

At the American College of Medical Genetics and Genomics annual meeting, NICHD Director Diana Bianchi reported that whole-body MRI was the best follow-up test to confirm or rule out cancer.

At the American College of Medical Genetics and Genomics annual meeting, members of two working groups provided an early look at new versions of the existing standards.

For just under $3,000, the company analyzes DNA from a child's saliva sample by whole-genome sequencing, screening for genetic variants associated with more than 300 diseases.

With reimbursement from public health insurance, the "model project" will run for at least five years and examine the utility of genomic sequencing for advanced cancer and rare disease patients.

The Singapore-based company plans to launch the epiHera test in August, following interim results from a clinical study with researchers at the Chinese University of Hong Kong.

Patients in Illumina's global iHope philanthropic clinical WGS program saw changes in their management regardless of whether they lived in wealthy or poor countries.

At the AMP annual meeting this week, the company outlined its technology and vision for a speedy, low-cost, high-accuracy diagnostic.