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.
At the inaugural International Conference on Newborn Sequencing (ICoNS) in Boston last week, researchers outlined plans from eight studies in the US, the UK, Europe, and Australia.
The public-private partnership will initially screen babies for up to about 250 rare genetic conditions, most of which are not included in standard newborn screening.
Researchers looked for pathogenic or likely pathogenic variants in 121 cancer risk genes in whole-genome sequencing data from 1,336 unselected RCC patients.
The genetic testing and health intelligence firm will start trading on the Nasdaq Global Select Market on Friday under the ticker symbols SMFR and SMFRW.
The company is also working on a new Saphyr system that will have 14 times higher throughput than the current one, which can analyze 5,000 human genomes per year.