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Last Posted: Apr 15, 2024
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Clinical Application of Different Liquid Biopsy Components in Hepatocellular Carcinoma
J Xu et al, JPM, April 15, 2024

From the abstract: "Hepatocellular carcinoma (HCC) is the most common form of primary liver cancer, usually occurring in the background of chronic liver disease. HCC lethality rate is in the third highest place in the world. Patients with HCC have concealed early symptoms and possess a high-level of heterogeneity. Once diagnosed, most of the tumors are in advanced stages and have a poor prognosis. The sensitivity and specificity of existing detection modalities and protocols are suboptimal. HCC calls for more sophisticated and individualized therapeutic regimens. Liquid biopsy is non-invasive, repeatable, unaffected by location, and can be monitored dynamically. It has emerged as a useable aid in achieving precision malignant tumor treatment."

Concurrent Tissue and Circulating Tumor DNA Molecular Profiling to Detect Guideline-Based Targeted Mutations in a Multicancer Cohort.
Wade T Iams et al. JAMA Netw Open 2024 1 (1) e2351700

In this cohort study of 3209 patients undergoing concurrent testing across 4 cancer types who received both tissue-based and ctDNA genomic profiling results, 45.1% had a guideline-based variant detected. Of these patients, 9.3% had a clinically actionable variant detected by ctDNA profiling that was not detected by solid-tissue testing, and 24.2% had a variant detected by solid-tissue testing but not by ctDNA profiling; for patients with breast cancer with actionable variants, 20.2% had a unique, guideline-based variant detected by ctDNA profiling; most (55.0%) of these unique ctDNA variants were in the ESR1 gene. The study suggests that concurrent ctDNA–based and tissue-based genomic profiling identified more patients with targetable, guideline-based variants than would have been discovered by tissue profiling alone, with a higher detection rate among patients with breast cancer. "

Concurrent Circulating Tumor DNA and Tissue Genotyping-Ready for Prime Time?
Benjamin A Bleiberg et al. JAMA Netw Open 2024 1 (1) e2351679

From the article: "Cell-free circulating tumor DNA (ctDNA) is shed by tumor cells into the systemic circulation and, thanks to advancements in next-generation sequencing (NGS) technologies, affords the opportunity to noninvasively detect cancer-specific somatic variants. The use of ctDNA-based molecular genotyping for tumor profiling and identification of patients eligible for targeted therapies has been integrated into clinical practice for a variety of tumor types. The prime example of this is in non–small cell lung cancer (NSCLC), where identifying actionable variants via genomic profiling is essential to determining the appropriate standard of care for patients. "

What Will 2024 Mean for NGS and Genomics?
J Lemieux, GenNew, January 12, 2024

From the article: "Recent technological innovations in next-generation sequencing (NGS) have users spoiled for choice. At first, new options began trickling in. But then the floodgates opened in 2022. Folding into this market expansion is the growth in the demand for sequencing, not only from directed genomic sequencing, but also from the growth of other omics technologies such as single-cell genomics and spatial transcriptomics, and of clinical applications such as liquid biopsy—all of which rely on sequencing."

Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.