Julia Karow tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb. Follow her on Twitter at @Julia_Karow.
The first application of the technology will be for noninvasive prenatal screening followed by cancer liquid biopsy testing.
Last month, the Cyprus-based genetic diagnostics company launched a number of hereditary cancer and somatic tumor sequencing panels, its first tests for oncology.
Scientists from the UK and China discussed two new NIPTs that include single-gene disorders and a study to estimate disease recurrence risk in families.
Last year, the firm saw 21 percent growth in reproductive health, 56 percent growth in oncology, and 49 percent growth in infectious disease testing.
The California startup is about to launch its first product, a noninvasive prenatal screening test for recessive single-gene disorders called Unity.
The genetic disease risk test, which covers 59 genes endorsed by ACMG, is offered through the Helix marketplace and includes genetic counseling services.
As of January the project had returned 290 positive results for CDC Tier 1 conditions from 23,500 participants who had undergone exome sequencing.
In 125,000 de-identified Invitae customers with and without a personal or family history of cancer, 23andMe's DTC test would have missed almost 90 percent of BRCA mutations.
A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.
The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.