Comprehensive Genomic Profiling

Several biomarkers identified by comprehensive genomic profiling were found to predict efficacy and toxicity of chemo-radiotherapy in patients with non–small cell lung cancer (NSCLC), with progression-free survival and overall survival outcomes associated with some of the identified genes.

A genetic biomarker test for patients with aggressive prostate cancer was found to identify which patients are more likely to respond to radiation and hormone treatments or develop metastases, allowing providers to personalize therapy regimens for high-risk patients.

A study concluded that use of a multigene liquid biopsy blood biomarker for diagnosis of neuroendocrine tumors was over 94% effective at predicting tumor recurrence compared with other commonly used biomarker, Chromogranin A.

Use of comprehensive genomic profiling in patients with advanced non–small cell lung cancer (NSCLC) was linked with significant improvements in progression-free survival and overall survival.

Molecular profiling is more often used after standard cancer treatments have failed; a recent study suggests that it could effectively guide first-line treatment, especially for cancers with a poor prognosis.

Study findings suggest that the unique genomic variations of cerebrospinal fluid can be leveraged as a liquid biopsy to effectively and safely improve decision-making regarding treatment of patients with non–small cell lung cancer (NSCLC) with leptomeningeal metastasis.

Periodic reinterpretation of genetic sequencing results presents a challenge for developing transparent and systematic coverage and reimbursement policies.

A literature review examined the many clinical applications for circulating tumor DNA (ctDNA) analysis in non–small cell lung cancer (NSCLC) and provided insight into how liquid biopsy can help avoid certain limitations presented by other ctDNA analysis methods.

Investigators reported comprehensive genomic features of patients with clear cell renal cell carcinoma, potentially giving providers a better understanding of the molecular features associated with the disease.

Polymerase chain reaction–based comprehensive genomic profiling testing provided useful information for more than 94% of samples, including 81% of samples that normally would not have been tested, suggesting that more patients may benefit from CGP testing than anticipated.

Investigators confirmed prognostic biomarkers for premenopausal patients with hormone receptor–positive (HR+) and human epidermal growth factor receptor 2–negative (HER2–) advanced breast cancer, which could potentially be used to inform treatment decisions.

A literature review detailed the multitude of ways that liquid biopsy can be used to aid the treatment of patients with cancer, including aiding in screening, recurrence surveillance, genomic profiling, and therapeutic decision-making.

Investigators identified 5 mutated genes that could serve as biomarkers for disease prognosis and clinical outcomes associated with pancreatic ductal adenocarcinoma, a common cancer with a high mortality rate and poor prognosis.

Investigators identified serial liquid biopsy as an effective tool for identifying mutational changes of RAS genes in patients with metastatic colorectal cancer (mCRC) who have undergone antiangiogenic therapy.

Using whole genome sequencing, copy number signatures were successful in predicting both the presence of chromothripsis and clinical outcomes in patients with newly diagnosed multiple myeloma (MM).

Foundation Medicine and Epic struck a deal to integrate comprehensive genomic profiling within Epic's electronic health records (EHRs), allowing for providers to order and review genomic profiling tests, leading to more streamlined clinical decision making.

Approximately 1 in 6 healthy individuals who underwent proactive genetic screening had genetic variants linked to increased risk for developing medically actionable disorders, including certain cancers and cardiovascular disorders.

Investigators examined the current bodies of evidence surrounding the emergence of next-generation gene sequencing, and the challenges that come with it, for identifying oncogenic drivers of early-stage non–small cell lung cancer (NSCLC).

This study shows little evidence of harms or increased health care utilization for people receiving negative (normal) results of expanded carrier screening through genome sequencing.

Fear of negative emotions, lack of interest, and distrust of medical institutions were some of the reasons that participants refused to receive information regarding medically actionable secondary genetic findings, even after they received additional education on what the findings would include.

Genomic sequencing was found to be an effective way to identify and evaluate the risk of pathogenic and likely pathogenic variants detected in pediatric patients with a range of cancer types.

A community oncology practice network and a cancer genomics firm announced an initiative to expand opportunities for real-time precision medicine as well as research participation.

Polygenic risk scores, which evaluate disease risk based on DNA variants, have previously been based almost entirely on patients who had European ancestry.