This article introduces the Center for Genomics Interpretation's variant interpretation quality assessment program to help insurers better understand the quality of NGS tests. And the article has collected and organized related issues. In the absence of a sufficient regulatory framework, insurers are voicing the need to verify the quality of NGS diagnostic tests objectively.
Illumina and AstraZeneca have announced an AI drug discovery partnership. Illumina's AI models PrimateAI and SpliceAI and AstraZeneca's JARVIS will be used to find genetic variants that affect disease. The two organizations set out to identify drug targets that are most likely to be successful and identify the patient groups that will most likely benefit from the treatment.
Researchers from Thailand conducted a first-tier exome sequencing test in infants to diagnose drug-resistant epilepsy and published the results in a paper. Of the 103 infants in the five-year study, 62% were successfully diagnosed. The researchers found 66 pathogenic variants in 27 genes, of which 19 variants were previously unreported.
At the International Conference on Newborn Sequencing (ICoNS) held in Boston, USA, a study of newborn screening using genomic testing was introduced. Eight programs in progress in the US, Europe and Australia were introduced.