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Other Genomic Tests Explained

Genomics Tests

Introducing Pharmacogenomic Testing (PGx)

 Pharmacogenomics (PGx) testing is not new.
You can benefit from this test report at any time in your life regardless of age or health status. PGx testing is a break away from one size fits all medicine.

When you receive your extensive PGx report there is a summary card listed on the last page. The summary card should be printed and kept in your wallet or purse and provided to all treating health professionals, including anaesthetists, dentists, GP, pharmacists, oncologists, etc.

Potential Benefits: With PGx results doctors can individualize drug selection & dosage for patients based on genetic makeup. You can be tested prior to treatments to determine responses to certain drugs. For patients currently on treatment, results may identify better treatment options or identify why a patient is experiencing side-effects. 

Keeping an eye on your DNA

PGx the Right Drug, for the Right Patient, at the Right Dose

When your doctor tells you that Pharmacogenomics (PGX) is too new, here is what you need to know:

Pharmacogenomics and its predecessor pharmacogenetics study the contribution of genetic factors to the inter-individual variability in drug efficacy and safety. One of the major goals of pharmacogenomics is to tailor drugs to individuals based on their genetic makeup and molecular profile.

From early findings in the 1950s uncovering inherited deficiencies in drug metabolism that explained drug-related adverse events. Pharmacogenomics is considered during the design of clinical drug trials. For just $450 you can be empowered to access PGX testing – your life may depend on it!  Contact GRACE now!

2. Solid Tumour Cancer Analysis

Clinical trials of over 70,000 patients have shown that personalised therapy, based on genomic profiling of tumours, is the most effective way to improve outcome, with higher response rates, longer progression free and overall survival, and fewer deaths related to toxic effects across all cancers.

Personalised therapy, based on genomic profiling of tumours, is the most effective way to improve outcomes.

Breakthrough Genomic (DNA) tests can solve the puzzle of your cancer as well as identifying targeted treatments or targeted clinical trials which may result in reduced side effects. Contact GRACE now!

Our preferred laboratory is the only NATA accredited laboratory in Australia. The comprehensive Solid Tumour Analysis may detect mutations in the DNA and in the RNA across 500 genes.

To perform this test requires tissue from a recent biopsy. Previous biopsies can be used in most cases.

Results: The results are personalised and based on the molecular profile of your tumour. 
We can guide you to a genomic interpretation specialist who will be able to forward on his expert interpretation to you oncologist. Contact GRACE

3. Liquid biopsies to monitor your cancer

Why you need to know about Liquid Biopsies:

Liquid biopsies also known as Cell-free DNA (cfDNA or ctDNA) tests, measure small fragments of DNA that are released into the blood by a shedding process from tumour cells that demonstrate mutated DNA.

Tumour cells from several cancers are known to release or shed circulating cell-free tumour DNA (ctDNA), which may contain identical mutations to those identified in a patient’s primary tumour.

Another benefit of ctDNA is to monitor therapy and check for resistance to treatments. ctDNA testing provides an overview of all the different cells within a tumour.

Analysis can detect new molecular changes in the cells, which may provide an early indication of resistance to therapy.

Circulating free DNA which is called cfDNA or ctDNA, are degraded DNA fragments released into the blood plasma

4. ctDNA early diagnosis and detection

ctDNA testing for early diagnosis & detection

The reason why it is important to track the number of cancer cells in real-time:

1. Levels of ctDNA increase with disease progression and decrease in response to treatment.

2. ctDNA can more accurately reflect the real-time tumour size and burden than other cancer markers…

3. ctDNA levels over time can be used to monitor response to treatment, as shown in Figure 1. opposite. 

Contact GRACE

5.Genomic Radiation Sensitivity Testing

Genomic science can now solve the puzzle of why some cancer patients experience worse radiation side effects. 

The radiation sensitivity assay may help determine if you have the TGFβ1 genetic variation associated with a low or high risk of developing radiation fibrosis. There is no doubt that for some patients’ radiation therapy is lifesaving and life extending, however side effects – both short and long term, can cause cancer patients significant suffering.

The impact of life changing side effects can impact physical and psychological wellbeing. Side effects such as discussed on this page, especially in cancer patients over 60 years of age, should be taken into account. Short or long term debilitation may be able to be avoided. 

Causes of Radiation Induced Fibrosis

Why consider Radiation Sensitivity Testing?

Genomic Testing can determine if you have the TGFβ1 genetic variation which may be associated with low or high risk of developing fibrosis.

Transforming growth factor-b1 (TGFβ1) is the major cytokine responsible for the regulation of fibroblast proliferation and differentiation. (Cytokines are small secreted proteins released by cells have a specific effect on the interactions and communications between cells).

It has been suggested that an increase in these fibroblasts may trigger the development of fibrosis.  Contact GRACE

Around 50% of patients with solid malignant tumours receive radiation therapy at some point in the course of their disease.

6. Tumour Mutational Load Assay (TML)

How could this benefit me?

Patients may be offered a range of drug-based immunotherapy known as anti PD1 treatments or checkpoint inhibitors.

Before considering these treatments it is in patient’s best interest to have a TML (Tumour Mutational Load) test performed on their cancer tissue.

The results of this test may indicate your likely response to immunotherapy as well as the potential for serious side effects.

The Tumour Mutational Load assay has been designed in response to the need to determine if treatment utilising immune checkpoint inhibitors is likely to be of benefit in your particular clinical circumstances.

Based on our experience so far, we consider this test a crucial step in informed consent. It is imperative that you discuss side effects with your treating doctor, gaining as much information as possible prior to making a decision.

The TML result will help you with that decision.

7. Breast and Ovarian BRCA Testing

BRCA Plus Panel Sequencing

Our preferred genomic laboratory provides a BRCA Plus panel that covers both the BRCA1 & BRCA2 tumour suppressor genes, as well as 10 other genes commonly associated with breast and ovarian cancers.

BRCA Plus testing can be performed using somatic (tissue) samples in patients currently diagnosed with cancer, or germline (blood) samples in patients who are at an elevated risk of developing cancer.

The Grace Gawler Institute

The BRCA Plus analysis may identify the underlying genetic mutations that are unique to your cancer and can be useful for patients wanting to determine their risk of familial cancer.

For patients with a cancer diagnosis, testing of their tumour tissue can help provide information on potential therapeutic options and likely resistance, as well as clinical trials and new treatments they may be able to access.

For those wanting to determine if they have an inherited BRCA mutation, with or without a cancer diagnosis, our preferred laboratory also provides germline testing options, available using either blood or mouth swab samples.

Testing can help to assess an individual’s risk of developing cancer and offer personalised care.

The tests listed on this page are just a few of the genomic tests available to cancer patients. To discuss any of the listed tests or how genomic testing can help youContact GRACE

8. Oncotype DX test

Of the 20,000 Australians diagnosed with breast cancer each year, about 3000 to 3500 could be undergoing chemotherapy when they didn’t need it.
For the 65 per cent of women who have hormone receptor positive HER2 negative cancers, genomic testing was a reliable way to way to give patients more information to base their treatment decisions on, Dr Clay said.
“There are some women with types of cancer that are very high risk and definitely require chemotherapy,” he said.
“Then there’s a group of women with intermediate-risk cancers where there is a balance between the benefits of chemotherapy and side effects.
“The test works in both directions, it predicts people who won’t benefit, but it also identifies who will benefit and who really needs these treatments.”

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Grace Gawler