Cytogenetics is the study of chromosomes within a cell. Most commonly done at diagnosis, cytogenetic testing identifies the genetic mutations which characterise a person’s myeloma. This information helps doctors understand more about a person’s myeloma, how it may affect them over time, how it may respond to treatment and for some, cytogenetics can influence treatment decisions. Many people with myeloma want to know about their cytogenetics to help them understand more about their myeloma and what they can expect. There are a number of ways to look at a person’s cytogenetics, we are very excited to share this story from the Alfred Hospital in Melbourne, the first hospital in Australia to introduce the MMprofiler™ technology for cytogenetic testing and we look forward to seeing more of this available around the country.

The Alfred Hospital via it’s Multiple Myeloma programme is the first specialist myeloma centre outside of Europe to introduce the innovative MMprofiler™ risk-profiling platform for newly diagnosed myeloma patients and is making the technology available to patients being treated at The Alfred. The MMprofiler™ assay measures the expression of all the genes in myeloma cells purified from the bone marrow prior to starting treatment, an algorithm called Skyline 92 then specifically calculates the expression of 92 genes and is able to define patients with ‘high-risk’ myeloma. Moreover, the use of the MMprofiler™, within only 48 hours, provides a more accurate way of defining the chromosome abnormalities usually detected with FISH testing, thus making FISH testing unnecessary. Patients with high-risk myeloma have more aggressive disease and are more likely to relapse early, so the information provided by the MMprofiler™ is critical to inform a more personalised approach to treatment for patients identified with high-risk disease. The team at The Alfred have been using the MMprofiler™ in a number of their investigator-initiated clinical trials of high-risk myeloma over the past 2 years and have optimised the assay in their hands including obtaining the appropriate accreditation for the use of the assay via Skyline Diagnostics in Rotterdam. The platform underwent several years of intensive validation and is now approved the by European regulatory agency the EMEA as a diagnostic tool. It was introduced for the first time in clinical practice at the Erasmus Medical Centre in Holland in July 2019 and is being made available to UK myeloma patients via Everything Genetic Ltd. Head of the Alfred Multiple Myeloma Programme Professor Andrew Spencer said ‘the MMprofiler™ represents a highly robust and reproducible way of applying appropriately validated genetic risk analysis into the myeloma diagnostic process and now for the first time will enable us to personalise patient treatment by having real-time genetic characterisation of a patients disease when it is first diagnosed’.

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