GENOMIC TESTING

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.

Jennifer Marie Suga, MD, discusses how the results from next-generation sequencing tests are assessed to help physicians manage their patients in real-time.

Jennifer Marie Suga, MD, discusses implementing a genomic oncology program at Kaiser Permanente Northern California through large-scale genomic next generation sequencing testing of patients with advanced cancers in the community setting.

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.

Julie R. Brahmer, MD, discusses the role of molecular testing for patients with lung cancer and why this is particularly important for those with early-stage disease.

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;

Leonard G. Gomella, MD, discusses the factors that determine which patients with prostate cancer should undergo genetic testing.

Yuma Regional Medical Center Cancer Center has implemented a genetic cancer screening and testing for their patients through collaboration with Myriad Genetics, a molecular diagnostic testing company, according to a presentation by Erica Martinez, RN, OCN, at the Association of Community Cancer Centers&rsquo; 2019 National Oncology Conference. After partnering with Myriad Genetics, the cancer center saw a 4-fold increase in genetic testing of patients with cancer in the first 4 months, which led to a change in clinical management in 20% of those cases.