NGS testing for cancer in simple terms
What is NGS or tumor profiling test ?
NGS (Next Generation Sequencing) test also known as tumor profiling for cancer is a type of genetic test that uses advanced technology to examine genetic alterations or mutations in a person’s DNA or RNA that may be associated with the development of cancer and help in targeted therapy. It is a powerful method that uses cutting-edge technology to examine multiple genetic changes relevant to cancer simultaneously . NGS data analysis and interpretation is one of the crucial steps in the process. It provides a more accurate picture of a person’s cancer risk, as well as guides personalized cancer therapy. Recent advancements in precision oncology have revolutionized cancer detection and treatment, allowing doctors to provide patients with more effective and less toxic therapies.
Doctors, particularly, oncologists and other specialists may order an NGS test for cancer in several situations some of which are listed below :
1)It can help diagnose cancer by identifying specific genetic mutations or alterations that are known to be associated with the disease.
2)NGS testing can help determine the prognosis of a cancer patient by providing information on the aggressiveness of the tumor and its likelihood to respond to certain treatments.
3)NGS testing can also be used to guide treatment decisions by identifying genetic alterations that may respond to targeted therapies, immunotherapies or other specific treatments.
4) NGS can help identify individuals with inherited risk of cancer by identifying specific genes which run through families. Pre test and post test genetic counselling is important so that the information is received in an appropriate manner by the individual and his/her family .
What if the NGS test results come negative ?
If a patient’s molecular test results are inconclusive or show no actionable mutations, it means that the test did not identify any specific genetic changes or mutations that could be targeted with a specific treatment at that point in time. In this case, the patient’s healthcare provider will likely consider other factors, such as the patient’s overall health, type of cancer, and stage, to determine the most appropriate treatment plan.
While it can be frustrating when molecular tests come back as inconclusive or negative, it’s important to remember that these are just one piece of the puzzle in the battle against cancer. Diagnosing and treating cancer involves a variety of approaches, and molecular testing is only one of them. It is recommended that patients consult with their healthcare provider to create a tailored treatment program that takes into account the patient’s specific situation and requirements. Other tests and therapies may be available, so it is best to review all options.
Regular monitoring should always be conducted, especially if the patient’s condition changes or there are new treatments available. It is extremely important for patients to maintain close contact with their health care providers throughout the entire cancer treatment process. Keeping up with advancements in technology and treatments can help patients make informed decisions about their care. and to ask any questions they may have about their test results and treatment options.
How does one interpret the NGS report for cancer ?
Interpreting a Next Generation Sequencing (NGS) report for cancer can be complex and requires a good understanding of oncology , pathogenesis, molecular biology, genetics, and bioinformatics. Here are some general steps to help interpret an NGS report:
1.Understand the purpose of the test: The first step in interpreting an NGS report is to understand why the test was ordered and what information it is intended to provide. NGS tests can be used for a variety of purposes, such as identifying genetic mutations associated with cancer or inherited genetic conditions.
2. Review the report summary: The report should provide a summary of the findings, including any significant genetic mutations or alterations identified. Pay close attention to any mutations that are labeled as “pathogenic” or “likely pathogenic,” as these are the most clinically significant alterations which need to be acted upon
3. Understand the genetic mutations: If genetic mutations are identified in the report, research the specific genes and mutations to understand their potential impact on health. This may involve consulting medical literature or speaking with a medical specialist or genetic counselor.
4. Consider the patient’s medical history: To better understand the significance of the mutations identified in the report, it is important to consider the patient’s medical history, including any known family history of genetic conditions or diagnosis of cancer.
5. Discuss the report with a healthcare provider: NGS reports are complex and can be difficult to interpret, so it is important to discuss the report with a healthcare provider who has expertise in genetics and genomics.
NGS reports in cancer patients should never be looked at in isolation. They only provide limited genetic data and must be understood in the wider context of a patient’s medical history and treatment strategy. It’s important to consider all this when planning a course of action and therefore must be interpreted and actioned upon by trained, highly qualified medical specialists like oncologists.
Who all are involved in the processing ,reporting and interpretation of NGS testing for cancer ?
The NGS reports are complex and the samples are processed and handled by multidisciplinary teams The most important stakeholders are oncologists ,molecular biologists, pathologists , bioinformaticians, technologists , data scientists , genetic counsellors and patients .
What is multiomics testing ?
Multi Omics is a scientific analysis which effectively brings together data from various ‘omics’ technologies to give us a clearer, more complete view of biological systems. This type of analysis has been widely used in research and being increasingly used in cancer care . The term “omics” refers to the large-scale analysis of biological molecules such as immuno oncology biomarkers , DNA(genomics ), RNA(transcriptomics) , proteins(proteomics),metabolites (metabolomics), and epigenetic modifications(epigenomics) .
The multi omics analysis is believed to give a holistic perspective of a cancer patient’s biology and enables optimal treatment decisions .These studies are done in very few specialised labs.
In conclusion , NGS testing has the potential to improve cancer care by providing more information on individualized treatment plans and enabling better clinical outcomes for patients apart from its role in hereditary cancer screening and cancer interception
Disclosure : The author serves as the Director ( Clinical Support) and Senior Consultant Pathologist at Datar Cancer Genetics www.datarpgx.com which is a high end molecular lab offering various comprehensive panels for cancers and liquid biopsy testing for diagnosis,molecular profiling minimal residual disease, cancer screening and multiomic studies.
