TEST CODE: 008858

DIAGNOSTIC TEST FOR: TRANSCRIPTOME 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

Transcriptome Analysis

Transcriptome Sequencing assesses the expression of 20809 genes, which can provide complementary information to DNA sequencing. This analysis helps to provide a clinically relevant, multi-dimensional view of the complex molecular makeup of your tumour. Developing a gene expression profile may help in assessing the functional status of genes within critical cancer-associated pathways. This can potentially increase the number of targetable pathways in your cancer, highlighting additional targeted therapies you may be able to access to treat your cancer.

What is Transcriptome Sequencing?

The Transcriptome is comprised of all RNA molecules present in a biological sample, such as a tissue sample from a recent biopsy. The Transcriptome includes all mRNA transcripts in a cell, which reflects which genes are actively being expressed at any given time. Our Transcriptome Assay uses Next-Generation Sequencing (NGS) to measure the mRNA expression of 20809 genes.

Cancer is a complex disease, caused by a wide range of genetic variants that can be present in many combinations. Comprehensive DNA and RNA sequencing is proving to form an important basis to improving diagnosis, and to match patients with personalised targeted treatments, such as clinical trials and immunotherapies. ^[Transcriptome Sequencing is used complementary to DNA sequencing and is of growing clinical importance through aiding our understanding of how altered gene expression contributes to cancer.

How will the results from a Transcriptome Analysis benefit me?

Through Transcriptome Sequencing, a gene expression profile can be established, which may identify gene fusions and highlight up and/or down regulation of critical, cancer-associated pathways in your tumour. This can be useful in determining additional drug targets and drug pathways specific to your cancer, highlighting additional therapies and clinical trials you may be able to access that are specific to your cancer. Gene expression can also highlight what therapeutics you are likely to be resistant to.

Expression levels of androgen receptor (AR) pathway genes, like ACPP (prostatic acid phosphatase gene), KLK2/3 (kallikrein-related peptidase 2/3 gene), SLC45A3 (solute carrier family 45, member 3 gene), and TMPRSS2 (transmembrane protease, serine 2), help assess the status of AR pathway regulation in prostate cancers, irrespective of the status of AR gene or level of AR transcript. Specific mutations in cancer-associated pathway genes, like those of the NOTCH, WNT–beta-catenin, SHH (sonic hedgehog gene), and HIPPO pathways, can also be assessed for functional consequences in terms of expression levels of their downstream target genes.

Immunotherapies have recently emerged as promising treatment across a diverse range of cancer types. For many cancer types, immunotherapy drugs are not listed on the Australian Pharmaceutical Benefits Scheme and incur large out-of-pocket expenses. Therefore, for many patients it is important to know if the treatment is likely to be of benefit before commencing and Transcriptome Sequencing can also assist in determining your likely immunotherapies.

Transcriptome Analysis may also help confirm or corroborate tumour diagnosis. In cases of diagnostically challenging tumours, such as tumours of unknown primary origin, Transcriptome Analysis can help predict the likely tissue or origin through gene expression, helping to improve diagnosis and classification. For patients who have been previously undiagnosed or incorrectly diagnosed, obtaining an accurate diagnosis through Transcriptome sequencing can potentially increase the number targeted therapies they can access for treatment. Information obtained through Transcriptome sequencing has also led to matching of patients with therapies that have produced a significant clinical response to treatment, in patients with tumours that did not harbour DNA mutations targetable by available therapies.

What sample is needed for Transcriptome Sequencing?

Testing is performed on a sample of tissue taken during your most recent biopsy*. We require a copy of the Histology Report from your biopsy, and our laboratory staff will arrange the retrieval of your tissue for testing. 

*Please contact Genomed if your most recent biopsy was more than one year ago or if no biopsy is available, to discuss testing options. In most cases, previous biopsies can be used, and a new biopsy is usually not required

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.