Monica Heger tracks trends in next-generation sequencing for research and clinical applications for GenomeWeb.
The $649 NGS test screens for 193 disorders, can be ordered online, and is designed to supplement standard state newborn screening services.
The group now plans to run the 32-gene panel in clinical trials to demonstrate its utility and make the case for offering it within Canada's healthcare system.
The company recently demonstrated the potential of its PCR and NGS assays to diagnose infections in patients' prosthetic knees and hips.
Illumina plans to develop clinical-grade products and expects that reimbursement and regulatory trends will further drive growth of its technology in the clinic.
Liquid biopsy companies are increasingly recognizing the value of analyzing not just circulating tumor DNA, but biomarkers like CTCs, methylation, and proteins.
The firm plans to launch a nasopharyngeal carcinoma test in Asia this year and is developing breast cancer tests to supplement mammograms.
The Chinese government has implemented clearer regulatory guidance for genomic tests and invested in both clinical testing and research, spurring growth.
The test is offered to couples who have had an affected pregnancy, with the goal of providing a diagnosis to enable early prenatal or preimplantation genetic testing.
The researchers said that better diagnostics are needed to distinguish between false preterm labor and true preterm labor to prevent unnecessary treatment.
BGI is also developing sequencing-based self-sampling assays for pharmacogenomics and hereditary cancer testing.