TEST CODE: 008856

DIAGNOSTIC TEST FOR: FOCUS 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

Genomed Focus Tumour Analysis

The Genomed Focus Tumour Analysis is a targeted, next-generation sequencing assay that allows for the detection of hundreds of mutations across 52 genes commonly implicated in a range of cancer types. By sequencing using the Genomed Focus Assay, we can establish the molecular profile of your tumour. We can then use this information to build your personalised report and provide you with potential targeted therapies and clinical trials that you may be able to access based on the unique genetic makeup of your tumour. This can aid you and your health care professional in developing the best and most effective treatment plan for you, by providing you with treatment options that are targeted specifically to your cancer.

How will the results benefit me?

Your personalised report will provide you with the genetic characteristics of your tumour, based on the variants or mutations that may be detected in these genes. We use this genetic information to help determine your likely response to certain types of treatment and highlight therapies and clinical trials you may be able to access both in Australia and overseas, which are targeted specifically to treating the mutations identified in your tumour.

Included in the Genomed Focus Tumour Analysis are genes which can be clinically targeted by current, on market oncology drugs and over 40 of the genes included have targeted drugs currently in clinical trial phases. The Genomed Focus Tumour Analysis also enables detection of NTRK fusions in the NTRK1, NTRK2, and NTRK3 genes, which can help patients determine their likely response if considering treatment with TRK inhibitors.

Genomic testing provides a personalised approach to your cancer treatment, giving you the best chance of survival. The aim of this testing is to provide you and your health care professional 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.

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. [1, 2, 3] 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.

What is tested in the Genomed Focus Tumour Analysis?

The Genomed Focus Tumour Analysis can detect relevant hotspots, single nucleotide variants (SNVs), copy number variations (CNVs), insertions/deletions (indels) and gene fusions from 52 oncogenes and tumour suppressor genes.

The Genomed Focus Tumour Analysis is a subset of our Genomed Comprehensive Tumour Analysis, which covers over 161 genes commonly implicated in a wide range of cancer types. 

Technical Limitations

 The assay does not detect mutations that are outside of the targeted area and does not detect deep intronic variants, inversions, other translocations or methylation status. 

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

To perform this test, we require a sample of tissue from your most recent biopsy. In most cases, previous biopsies can be used, and a new biopsy is usually not required.* 

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

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.