Molecular Profiling
Testing the tissue (biopsy) for its Genomic & Genetic fingerprint
Profiling shines a light on what mutations are driving your cancer growth
What is the difference?
- Genetic is your inherited genes/DNA.
- Genomic is a more recent term that describes the study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment.
- Epigenetics is the study of how your behaviors and environment can cause changes that affect the way your genes work. Unlike genetic changes, epigenetic changes are reversible and do not change your DNA sequence, but they can change how your body reads a DNA sequence
- Molecular refers to the study of gene functions within a cancer mutation – ie tumor genomic profiling
There are many more Laboratories and Facilities than listed here. If you would like to add a Laboratory please use the form below.
Testing Facilities Australia
- Garvin Institute Australia
- GenomeONE
- Australian Clinical Labs
- Precision Oncology
- Genomic Diagnostics Australia
- FoundationONE Australia
- Foundation ONE USA
Testing Facilities New Zealand
Useful Resources
Australasian Resource – Not for Profit
We provide information about pathology tests to help you manage your health and make the right decisions about your care…[Continue onto Website]
Molecular Profiling
Described as Genetic, Genomic, and Molecular Profiling.
Understanding the differences
Immunohistochemistry Testing (IHC)
View the Cancer Toolkit Immuno 101 video resource on this subject
A chemical staining test of the tumours tissue sample. In brief, the staining process uses different dye colours to identify markers that indicate known mutations or potential causes of mutations associated with Cholangiocarcinoma.
- Cost: Inexpensive <$500.00
- Time Frame: 3 – 5 days.
- Biopsy tissue samples are tested – Brushing’s of a suspected tumour are often obtained in an ECRP investigative procedure.
- Testing is often done “in-house” providing valuable efficiency to discover the vital information that influences treatment planning.
- PD-L1 Expression presence can indicate that the cancer is using this to hide from the immune response.
- MSI (Microsatellite Instability.) Microsatellites are stretches (strings) of DNA that replicate. High instability indicates high unrepaired mistakes are occurring as a result of our body’s DNA Spellchecker (MMR) not functioning correctly.
- MMR or dMMR Mismatch Repair is a group of 4 primary genes (Spellcheckers) If all is functioning correctly then it is described as MMR. If one or more of the MMR genes are silent or absent, then it is described as dMMR. “d” for deficient.
- MSI-high occurs when 2 or more of the MMR Genes are absent or silent.
- “Germline” is hereditary or “Sporadic” (is not hereditary). If Germline is established the higher chance of Lynch Syndrome This helps your oncologist to know how to proceed.
Immunohistochemistry Testing for MSI-High
Molecular Profiling Details
Analysing both Genomic and Genetic profiles of your DNA and typically includes (IHC) immunohistochemistry test.
- Costs: Approximate $5000.00 -$10,000 (Au/NZ)
- Time frame: 3 – 5 Weeks
- Who: Specialised Laboratory
- Provides a blueprint of what’s going on in a tumor. A Tumor Blueprint, for your Oncologist to help make more informed choices based on the genomic landscape inside the tumor.
- Definition: Genomic Testing: This is more the epigenetic impact examination of the Genes and DNA mutations that are present and unique in a tumor and driving the growth of the cancer.
- Definition: Genetic Testing: Examines the hereditary Genes that have been present since birth.
Foundation Medicine
How cancer begins, grows and spreads
TMB is also a factor
Something to be aware of.
When the body has a dMMR/MSI-High environment it typically sees a higher TMB (tumour mutation burden) in the body and these tumours also have a strong correlation to higher expression of the protein-ligand PD-L1 which anchors to the surface of the tumour cells.
Tumor Mutation Burden (TMB) refers to the total amount of cancer tissue in the body. The survival of a patient relates to the tumor mutation burden, disease location, and most importantly, the pace of the disease. In general, patients with a high burden of tumors have a high pace of disease and therefore a very short survival without therapy.
Liquid Biopsies
Clinical Labs Partner with the Garvan Institute
Australian Clinical Labs is a private laboratory in Australia which uses the latest Aspect Liquid Biopsy technology to detect the recurrence of cancer using cfDNA biomarkers for colorectal, lung, and melanoma patients.
The process for patients is the same as a standard blood test which is non-invasive, pain-free and saves patients the time and cost of enduring a hospital procedure.
Aspect Liquid Biopsy will assist clinicians and help patients using advanced technology and a Personalised Medicine approach. Precision or Personalised Medicine harnesses genomic knowledge banks to tailor individualised treatments based on patients’, or their tumours’, genetic signatures…[continue to Clinical Labs]
Additionally click here to view a strategic “Genomic Partnership
Genomic Partneship
Australian Clinical Labs + Garvan = GenomeONE
Australian Clinical Labs and the Garvan Institute of Medical Research have formed a new partnership to grow genomics research and clinical capabilities that drive the development of new forms of precision medicine.
The partnership will secure advanced genomics testing and research capabilities in Australia and continue the work previously carried out by Garvan’s Genome.One team.
The new partnership is a natural fit. Both organisations share a passion and dedication to advancing genomics research and clinical care, and both bring complementary strengths to the new arrangement.
“Clinical Labs has two leading clinical molecular genetic services, one in Victoria and the other in Western Australia. We work closely with medical practitioners to deliver precise diagnostics and personalised treatment plans, based on a patient’s genetic makeup. We have long been leaders in clinical molecular genetics in the fields of cancer, mental health, sexual health, pregnancy, genetic screening, blood disorders, and drug therapy.
“Genome One’s clinical genomic service will become part of Clinical Labs and remain located at the Garvan Institute in Sydney. We will work closely with their researchers and their sequencing team to build a bigger and more advanced Precision Medicine pathology service. In combination, our work will advance the translation of genomics research into clinical practice and strengthen our diagnostic pathology service by taking clinical learnings back to the researchers at Garvan,” said Group CEO and Managing Director at Clinical Labs, Melinda McGrath.
GenomeOne’s clinical genomic service team joined Clinical Labs on Monday 26th November.
About Genomics Sequencing
Unlocking the secrets of inherited disease through advanced research has driven decades of scientific enquiry and captured the imagination of the medical and commercial investment communities.
Genomics has uncovered medical discoveries around cancer, heart conditions, and a number of rare diseases. Advanced genomics predicts an individual’s risk of developing a disease based on their genetic history and predisposition. Medical practitioners use advanced genomics to develop personalised patient treatment plans. It also offers families access to advanced diagnostic services that help them understand and manage their specific needs – now and in the future.
Read more about genomics: www.genome.one
Related Article : Oncology News
It’s all about healthy Cell Communication
Cancer is a genomic disease that co-opts normal cellular mechanisms to grow and survive. One of these mechanisms is growth signaling. Cells turn on these signals when they are biologically necessary – for example, to heal a wound. Healthy cells turn these signals off when they are no longer needed.
Unfortunately, mutations in the genes that control these pathways can turn growth signals on and keep them on. Flooded with faulty messages, cells divide relentlessly, eventually forming a tumor.
Growth signaling is one of many pathways controlled by genes and, unfortunately, genes can be mutated. Cellular quality control mechanisms that safeguard DNA can also be altered. Once these are downgraded, more mutations can appear more rapidly. Other variations turn on genes that expel toxins from cells – this includes chemotherapy – or turn off genes that tell diseased cells to die, a mechanism called apoptosis.
The mutation is a random process. Some variations bring survival advantages to tumors, others may do nothing at all. However, as a result, each patient often has a unique set of variations that govern how their cancer grows and which treatments it will respond to.
Molecular profiling offers a blueprint of what’s going on in a tumor. Cutting-edge genotyping can determine which tumor genes are mutated and how that might affect a patient’s prognosis and treatment options. Armed with this Tumor Blueprint, physicians and patients can make more informed choices based on the genomic landscape inside the tumor.
Source: ClearityFoundation.org
Foundation Medicine
How cancer begins, grows and spreads
Immuno Videos
AMMF – UK & Europe
CCF – USA Mutations Matter
“Immunotherapy is a penicillin moment in the history of cancer treatment, we are now seeing the word cure and immunotherapy in the same sentence for the first time.”
