THE INTRODUCTION of inhouse genetic testing for haemochromatosis at Cork University Hospital should result in savings of over €200,000 per annum and pave the way for further development of inhouse genetic testing, according to the consultant overseeing the project.
According to Dr John O’Mullane, consultant clinical biochemist at CUH, the move to inhouse genetic testing for haemochromatosis at the hospital was initiated as part of the reconfiguration by HSE South of hospital services in Cork and Kerry launched last year.
Haemochromatosis is a hereditary condition in which excessive amounts of iron are absorbed from the diet and are deposited in various organs, mainly the liver and also in the pancreas, heart and joints.
Dr O’Mullane explained that genetic testing for haemochromatosis first became available in the 1990s but it was the early 2000s before it became widely available and CUH, like many Irish hospitals, traditionally sent samples to specialist centres in the UK for testing.
“We estimate that we were sending a little over 2,100 samples a year to the UK for testing and that was quite a significant cost – the cost at the time was about €125 per test so we were spending around €263,000,” he said.
However, as part of the reconfiguration of services at Cork hospitals, it was decided to set up a pilot programme at CUH and a clinical subgroup involving consultants in haematology, gastroenterology and endocrinology was tasked with drawing up guidelines for testing.
A protocol for testing was established under Dr O’Mullane and principal clinical biochemist Caroline Joyce, and under this protocol it was found that the numbers of samples being sent for testing could be reduced from 2,100 per annum to around 660.
According to Dr O’Mullane, who yesterday presented an audit of the first three months of the programme to the subgroup, CUH was also able to achieve efficiencies through carrying out testing itself with the cost per test reducing from €125 to €50.
In addition to financial savings, inhouse testing at CUH means that those carrying out the test are more easily available for discussions with clinical consultants than staff at a remote centre in the UK when it comes to the issue of interpreting test results, he added.
Dr O’Mullane hopes that the savings achieved by carrying out haemochromatosis inhouse testing at CUH can be re-invested in the hospital so that it can begin inhouse testing for conditions such as Factor V Leiden and Prothrombin II Variance which are sent abroad.
“I certainly believe that the approach – getting the right protocols in place, getting the right guidelines, testing appropriately when you are using expensive testing as distinct from just testing everybody – is one that would serve the rest of the health service in good stead.
“According to our audit, we are going to be spending around €34,000 to €35,000 inhouse as opposed to over €260,000 a year outsourcing the testing – that’s a significant saving and it’s really the only way the health service is going to be able to survive in times of recession.”
