Autophagy-associated genes appear to be important for immune evasion, but losing multiple of these genes could also make cancers resistant to T cell activity.
The draft LCD would cover the Signatera minimal residual disease test for several solid tumor types and indications, including immunotherapy response monitoring.
The firm presented initial study results from the test, which identifies six cancers, showing overall sensitivity at 86 percent and specificity of 95 percent.
In a PrecisionFDA challenge, DeepVariant calls of PacBio HiFi reads topped 99 percent precision and recall for SNVs and indels, bringing HiFi in line with Illumina.
The tumor microenvironment (TME) is comprised of an array of cell types, including immune and inflammatory cells, adipose cells, neuroendocrine cells, and cancer-associated fibroblasts. Additionally, blood and lymphatic vascular networks and extracellular matrix components create a diverse and multifaceted situation. Understanding how all of these elements interact requires the ability to distinguish individual cell types--something that is difficult to do using bulk cell approaches. Single cell gene expression analyses offer a high-resolution understanding of the TME.
Carrier screening to detect the presence of heritable genetic defects has been an important element of reproductive health strategies for over 50 years. Until recently, however, the practice has been restricted to a limited number of single-gene tests offered mainly to higher-risk individuals or populations based on race, ethnicity, or ancestry. But the landscape of carrier screening and its role in reproductive health are changing fast.
