TEST CODE: 008855

DIAGNOSTIC TEST FOR: COMPREHENSIVE TUMOUR ANALYSIS

TURNAROUND TIME: 10–21 calendar days (14 days on average)

PREFERRED SPECIMEN: 3mL whole blood in a purple-top tube

ALTERNATE SPECIMENS: DNA or saliva/assisted saliva

Comprehensive  Tumour Analysis

The Genomed  Comprehensive Tumour Analysis is a pan-cancer, targeted, next-generation sequencing (NGS) assay that enables the detection of relevant single nucleotide variants (SNVs) and copy number variations (CNVs) across 500 oncogenes, including driver genes and tumour suppressor genes.

Each report is personalised based on the molecular profile of your tumour. The purpose of the report is to provide you with possible therapy options and clinical trials that you may be able to access based on the molecular profile of your tumour. This can aid your health care professional in creating the best treatment plan for you.

What is included in the Comprehensive  Tumour Analysis?

The Genomed Comprehensive Tumour Analysis may detect mutations in the DNA and fusions in the RNA across the following 500 genes.

The panel has been designed for translational and clinical research and analyses genes targeted by on-market oncology drugs and published evidence. Of the genes tested over 170 genes currently have targeted treatments, being used across 1,080 global clinic trials.

The Genomed Comprehensive  Tumour Analysis can also give an indication of tumour mutational burden (TMB), homologous recombination deficiency (HRD) and  Microsatellite Instability (MSI), all of which are important emerging biomarkers in predicting your likely response to immune checkpoint inhibitors.

Technical Information:

Testing targets specific gene mutations and does not detect mutations that are outside of the targeted area. Testing does not completely sequence every exon of each one of the cancer genes. For Ion Torrent sequencing, the limit of detection is 5% at 500X coverage and 10% at 200X coverage. The limit of detection for sequencing is ~1%. For medical practitioners seeking further technical information regarding the assay, please contact Genomics For Life. 

What sample do you need to perform the Comprehensive Tumour Analysis?

To perform this test we require tissue that has been excised from your most recent biopsy. Previous biopsies can also be used in most cases* and a new biopsy is not usually required. This assay uses the Ion AmpliSeqTM technology and has been optimised to enable detection of variants using low-input FFPE samples such as fine needle biopsies and core needle aspirates.

*Please contact Genomed if your most recent biopsy was more than one year ago or if no biopsy is available, to discuss testing options

How can I use the results of the Comprehensive Tumour Analysis?

The aim of this test is to provide information for your health care professional to help tailor treatment to your specific needs, as well as identify potential access to clinical trials. Your personalised report will provide you with the genetic characteristics of your tumour which can then be matched with specific drugs that may help to increase the likelihood of disease-free progression.

A comprehensive genomic analysis may provide information on:

• Potential therapeutics
• Potential therapeutic resistance
• Clinical Trials and New Treatments
• Prognosis

Genomic testing provides a personalised approach to your cancer treatment, giving you the best chance of survival. Clinical trials of over 70,000 patients have shown that personalized therapy, based on genomic profiling of tumours, is the most effective way to improve treatment outcomes, with higher response rates, longer progression free and overall survival, and fewer deaths related to toxic effects across cancers.

Investing in genomic testing, to obtain a complete diagnosis and to select appropriate, targeted therapy, is a small cost compared with the time and money that may be wasted on ill-chosen therapies. Genomic testing provides a powerful diagnostic tool, and every patient with cancer deserves an accurate diagnosis.

Why is it important to have genomic testing on my tumour?

Mutational analysis is important to clinical decision-making in cases of tumours as an aid for therapy treatment decisions. Tumour molecular profiling is a fundamental component of precision oncology, enabling the identification of genomic alterations in genes and pathways that can be targeted therapeutically.

In 2018, genome-informed treatment could be offered to 15.44% of patients with metastatic cancer.  The percentage of patients with cancer estimated to benefit from genome-targeted therapy in 2006 was 0.70%, and in 2018, it has increased to 4.90%.  For genome-informed treatment in 2006, the percentage estimated to benefit was 1.31%, and in 2018, it has increased to 6.62%.  The median overall response rate for all genome-informed drugs through January 2018 was 54%, and the median duration of response was 29.5 months.  A retrospective analysis of 1,307 patients with at least 1 genetic change in the cancer, showed improved outcomes for patients whose treatments were matched to their genomic profile.

Ready to take control of your treatment plan?

Genomed aims to educate patients and their families on their cancer types and empower them with the knowledge to take control of their treatment plans. As each patient’s case is unique, there is no “one size fits all” when it comes to testing. We encourage you to contact Genomed, and we can work with you and your oncologist/specialist, to determine what tests would benefit you.