GENOMIC TESTING

Today, many community oncology practices routinely employ genetic testing, enabling newly diagnosed patients and their oncologists to make treatment decisions and to formulate preventive strategies based on genetic information.

During a Targeted Oncology Case-Based Roundtable event, Grace K. Dy, MD and 9 other physicians discussed molecular testing for patients with non–small cell lung cancer.

Potentially clinically actionable genomic alterations were identified in a majority of patients with advanced cancers with next-generation sequencing evaluated in a prospective study.

Novel methods of genetic testing have led to improved detection and better clinical decisions in patients with melanoma, especially in the late-stage setting.

As the understanding of genetic risk factors in breast cancer continues to grow, professional organizations have sought to provide specific recommendations for genetic testing that would prevent overtesting yet still diagnose as many mutations as possible in patients.

The FDA has granted approval to the VENTANA ALK CDx Assay as a companion diagnostic to identify patients with ALK-positive non–small cell lung cancer who may be eligible for treatment with the recently approved ALK inhibitor lorlatinib.

During a Targeted Oncology Case-Based Peer Perspectives event, Arash Rezazadeh Kalebasty, MD, discussed genomic testing and evidence-based treatment of a 60-year-old male patient with prostate cancer.

During a debate at the 27th Annual Prostate Cancer Foundation Virtual Scientific Retreat, Daniel Spratt, MD, debated Daniel Lin, MD, on the subject of genomic classifiers in prostate cancer.

In an interview with Targeted Oncology during the 2020 Association for Molecular Pathology Annual Meeting, Ozge Ceyhan-Birsoy, PhD, discussed genetic testing methods for patients with hereditary predisposition and the molecular research underway at MSKCC to improve testing in this patient population.

The Access to Comprehensive Genomic Profiling Coalition has been formed by 7 leading diagnostic companies and laboratory providers across the United States to advocate for appropriate broad health insurance coverage of comprehensive genomic profiling for patients with advanced-stage cancer.

A pathogenic germline mutation rate of about 5% has been identified in women who had a family history of breast or ovarian cancer but no personal history of either disease.

In an interview with Targeted Oncology, Carl Morrison, MD, DVM, senior vice president Roswell Park Comprehensive Cancer Center, discussed the rationale for evaluating the Ion Torrent-based approach to predicting response to immunotherapy. He highlighted the importance of this in the clinical setting and advances are necessary to further validate this as a biomarker of response.

Microsatellite instability has been an FDA-indicated biomarker for immunotherapy since 2017, when the PD-1 inhibitor pembrolizumab was approved for patients with solid tumors found to be mismatch repair deficient or MSI high. Other approvals since then, such as for the combination of ipilimumab and nivolumab in patients with MSI-H/dMMR metastatic colorectal can­cer, have established the relevance of cancer thera­pies for tumors with this biomarker specifically rather than tumor histology alone.

In an interview with Targeted Oncology, Whitney Ducaine, MGC, CGC, CN-BM, discussed the evolution of genetic testing in oncology. She highlighted the importance of having conversations with genetic counselors to help inform the patient on their familial risks as well to help inform treatment decisions.

High volumes of mutations observed through liquid biopsies may be associated with an improvement in progression-free survival  and clinical benefit after first-line standard-of-care pembrolizumab-based therapy in patients with metastatic non-small cell lung cancer, according to findings from a prospective biomarker trial conducted by investigators at the University of Pennsylvania Perelman School of Medicine and Abramson Cancer Center, which were published in Clinical Cancer Research.

Treatment with immune checkpoint inhibitors appears to elicit limited clinical activity in patients with osteosarcoma. In a study, investigators at MD Anderson Cancer Center found that certain factors like poor infiltration of the tumor by immune cells, low activity from available T cells, a lack of immune-stimulating neoantigens, and multiple immune-suppressing pathways may interfere with response to immunotherapy in these patients, according to a press release from the organization.<br /> &nbsp;

Next-generation sequencing in patients with chronic lymphocytic leukemia treated with the combination of chlorambucil and ofatumumab showed that the presence of&nbsp;TP53,&nbsp;SF3B1,&nbsp;and&nbsp;NOTCH1&nbsp;mutations were predictive of reduced efficacy, according to the results of the phase III COMPLEMENT1 trial published in&nbsp;Haematologica.

Willemina R. Geurts-Giele, PhD, discusses 2 approaches used to detect the MET exon 14 skipping mutation in patients with non-small cell lung cancer.

The Ion Torrent Oncomine Myeloid Research Assay, the first fully-integrated next-generation sequencing platform, will be available in 2020 on the new Ion Torrent Genexus System for research use, according to a press release from Thermo Fisher Scientific. The platform features automated workflow to allow for result delivery within a single day, requiring minimal user intervention and tissue sample input.

MI Genomic Profiling Similarity Score, the latest addition to the comprehensive genomic profiling armamentarium at Caris Life Sciences, has been launched, according to a press release from the company

James L. Mohler, MD, discusses the evolving role of genetic testing in patients with prostate cancer following the updates to the National Cancer Care Network Guidelines, which now include guidance for better practice in terms of conducting genetic testing in this patient population.

The FDA granted an Investigational Device Exemption approval to the Personal Genome Diagnostics Inc. elio^TM&nbsp;tissue complete assay for use in a Merck trial evaluating pembrolizumab combinations in non&ndash;small cell lung cancer, according to a press release from PGDx, developer of the assay.

A plethora of new technology has been developed to assist in identifying targetable mutations, including next- generation sequencing. NGS assays that identify tumor genes can range in use from targeted to comprehensive panels, all of which have accelerated the advancement of personalized medicine.

Precision medicine has afforded oncologists the opportunity to develop individualized approaches to treat non&ndash;small cell lung cancer, one of the most devastating malignant disorders, which until the past decade was thought to be invariably fatal within months.

In an interview with&nbsp;Targeted Oncology, Willemina R. Geurts-Giele, PhD, discussed the accuracy of detecting&nbsp;MET&nbsp;exon 14 skipping mutations in patients with NSCLC with DNA-based NGS panels. These findings were presented at The Association for Molecular Pathology Annual Meeting and Expo.

The emergence of resistance mutations in patients with cancer who receive targeted therapies is an expected development that will require new diagnostic methods of identifying the mechanisms through which these alterations occur, according to Fei Dong, MD, during the 2019 Association for Molecular Pathology Annual Meeting.<br /> &nbsp;

In a presentation describing the utility of circulating tumor DNA liquid biopsy assays at the 14th Annual New York Lung Cancers Symposium, Bob T. Li, MD, MPH, said that plasma genotyping demsonstrates practice-changing potential in non&ndash;small cell lung cancer.

Testing for driver mutations is essential before initiating therapy in patients with non&ndash;small cell lung cancer, because there is a risk that the type of upfront treatment chosen could add to the toxicity of, and spur resistance to, targeted therapy options, Suresh S. Ramalingam, MD, said at the 14th Annual New York Lung Cancers Symposium.

Kevin Halling, MD, PhD, discussed the clinical utility of RNA-sequencing methods in patients with cancer at the 2019 Association for Molecular Pathology Annual Meeting and Expo. Halling says RNA sequencing is a very powerful diagnostic technique.

At the 2019 Association for Molecular Pathology Annual Meeting and Expo, Adam Fisch, MD, PhD, presented a unique patient case where a patient with acute myeloid leukemia harboring a <em>FLT3</em>-TKD mutation lost the mutation following relapse on gilteritinib.<br /> &nbsp;