A new genetic test developed at Monash Health is set to improve identification, diagnosis and personalised treatment for cancer patients, leading to better treatment outcomes.
It has already proven vital in patient care, with a rare type of brain cancer identified in a young patient.
Monash Health’s genetic laboratory team, under Dr. Vivek Rathi, has recently completed the validation process to introduce a screening test for a particular type of genetic abnormality called ‘genomic rearrangement’ or ‘gene fusion’ using a cutting edge next-generation sequencing (NGS) platform.
The assay screens for fusion abnormalities in 507 genes, which are most commonly implicated in cancers such as: childhood and adult sarcoma and brain tumours, tumours found in lung, thyroid, salivary gland, kidney, urinary bladder and more.
This test utilises a small amount of RNA (ribonucleic acid) extracted from a patient’s tumour. RNA is an essential molecule in cells and performs various important roles for proper functioning of the human body. The new test simultaneously screens for almost all the main gene fusions found in a variety of cancer types and does not require any prior knowledge of fusion gene partners.
The results of this test are not only useful as diagnostic tool but are also incredibly helpful in guiding personalised therapy for cancer patients, thereby offering better treatment outcomes.
Dr. Rathi, the Unit Head of Genetics and Molecular Pathology at Monash Health, said “This targeted RNA sequencing panel is a cost-effective solution to screen for often found but hard to detect gene fusions in multiple cancer types, regardless of origin and on a massive scale.
“This is a useful tool to not only increase our understanding of different types of cancers but also offers our clinicians more options for treatment and diagnosis. The impact of this test was felt immediately when we recently helped establish an accurate diagnosis in a challenging case of an extremely uncommon type of brain tumour in a young patient from interstate”.
Professor Beena Kumar, Program Director of Pathology, praised the team’s breakthrough work saying, “It was a very difficult validation process, and the entire team in the laboratory under Dr Vivek worked hard within their existing resources.”
Monash Health can now proudly offer this investigative test to patients.
Work is underway to introduce several other new genetic tests to screen for abnormalities in other cancer types including detection of BRCA1/2 genes implicated in breast, pancreatic and ovarian cancers.