Non-invasive genomic bladder cancer profiling

9th March 2016

Posted By Paul Boughton

Bladder cancer is the seventh most common cancer in the western world, with more than 10,000 new cases diagnosed in the UK each year. Patients with non-muscle invasive bladder cancer (NMIBC) generally have greater than 90% survival rates over five years, but high recurrence rate and significant risk of progression to muscle invasive bladder cancer (MIBC) require continual monitoring. Current bladder cancer monitoring methods rely on repeat cystoscopy and biopsy. These procedures are highly invasive, unpleasant for the patient, and expensive for the healthcare system.

Now Affymetrix Inc has received a grant from Innovate UK (IUK) to demonstrate the health and economic value of utilising the company’s OncoScan FFPE Assay Kit for non-invasive genomic profiling of bladder cancer from urine samples.

With the grant, Affymetrix will develop a health and economic benefits assessment for replacing surveillance cystoscopies with non-invasive genomic profiling from urinary cell-free DNA (cfDNA) using the OncoScan assay.  Identifying genomic changes in a non-invasive fashion would allow for improved patient well-being as well as delivering significant cost savings for the UK National Health System (NHS).

The successful grant application was supported by research led by Dr. Richard Bryan from the University of Birmingham and an IUK Stratified Medicine Innovation Platform grant led by Prof Mike Griffiths from the West Midlands Regional Genetics Laboratory. This research has demonstrated that key genomic aberrations evident in bladder tumour biopsy material can also be detected in urinary cfDNA with the OncoScan assay, even for very early stage NMIBC tumors.  This work, examining a cohort of 23 patients with confirmed urothelial bladder cancer (UBC) was published recently in the European Journal of Human Genetics. The team showed that cfDNA from UBC patients is highly representative of the tumour genome and has a consistently higher tumor burden than DNA from exfoliated whole cells found in urine cell pellets, thereby allowing greater detection of important tumour-specific biomarkers.

Dr Bryan stated: "Although the majority of non-invasive tests for bladder cancer currently in use or being researched seem to rely upon the DNA extracted from the cells found in urine, we have shown that the cell-free DNA from the remainder of the urine is much more representative of the actual tumour, and so potentially more accurate. This opens up so many new and unexplored avenues for the millions of bladder cancer patients worldwide who are waiting for a revolution in their treatment and follow-up. This is really exciting. We will continue to explore these avenues through follow-on funding from Innovate UK, and will continue to work with Affymetrix to try to achieve this goal."

Following a favourable assessment of likely benefits for the NHS, Affymetrix will seek additional grant funding to test the OncoScan assay’s clinical performance and its ability to stratify patients who are likely to progress to MIBC compared to cystoscopy.








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