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Apology for Huntington's test blunder

24 January 2010
Appeared in BioNews 542

A nursing director from the UK's NHS has issued a public apology to a patient - known as Mr C - and his family after he had been misdiagnosed with Huntington's disease (HD) for almost 20 years. The original genetic test for HD was issued in 1989, when Mr C was in his early 30s, and carried a four per cent chance for false positives. It is believed that Mr C fell into this four per cent and his case has been described as 'extremely rare, if not unique', in this respect by Jim Martin, Scottish Public Services Ombudsman, who led a report into NHS Lothian's procedures for retesting patients.

Mr Martin recognises the grave situation created for Mr C and his family, who have had to make important life decisions based on the initial test result, such as the termination of pregnancies for both Mrs C and one of their two daughters. Furthermore, the daughters are reported to have 'lived in fear' of the hereditary aspect of the disease, which has a 50 per cent chance of being passed on. It is known that only 15-20 per cent of children of HD carriers apply for testing.

A more advanced genetic test for HD became available in 1993, but it was not until 2007 that Mr C was advised to take it, resulting in the revised assessment of his condition. This is despite Mr C's own request to be retested after showing no significant symptoms and becoming aware of the new test. 'Mr C told me that he inquired about retesting but was discouraged by his geneticist,' reported the Ombudsman, adding: 'I consider Mr C could have been offered a retest earlier.'

The board at NHS Lothian explained that a decision is made based on the significance of the improvements that may be achieved by retesting. In addition, Mr Martin found the 'general policy to be reasonable and consider[ed] it adequate to offer retesting as an ad-hoc option during patient reviews.' It was the lack of communication between Mr C and his geneticist which was thought to be inadequate.

A previous BioNews article quotes Dr Sheila Simpson, a Clinical Geneticist at NHS Grampian Hospital, as saying that 'both favourable and unfavourable genetic test results can have serious implications for the whole family,' and that 'depression, marital breakup and sometimes suicide can occur following test results.' It is therefore necessary for healthcare advisors, such as Mr C's geneticist, to take into account how powerful these test results can be, and take the opportunity to better advise a patient where possible. In this case, Mr Martin concluded his report with the recommendation for open discussions about new genetic tests so clinicians can make more informed decisions, and advised that 'geneticists discuss with patients the implications of improved tests as they become available.' A spokesperson at the British Society of Human Genetics (BSHG) agreed: 'It is also important that ongoing investment in UK genetic services is sufficient to allow the best tests and information to be available for patients in the future.'

HD is a neurodegenerative disease with onset usually occurring around middle age, often after patients have had children. The symptoms include difficulty speaking and moving, changes in personality and a mental decline. Despite ongoing efforts, such as research into brain tissue transplants, HD remains incurable.

Apology over brain disease error
BBC News |  21 January 2010
Blunder made family live in fear
Herald Scotland |  21 January 2010
Health Board Sorry for Brain Disease Diagnosis
TopNews UK |  21 January 2010
Health bosses apologise over brain illness blunder
STV News |  21 January 2010
Man's 20-year ordeal after being wrongly diagnosed with brain disease
Daily Record |  21 January 2010
Patient wrongly told he had brain disease for 15 years
The Scotsman |  21 January 2010
4 May 2010 - by Dr Vivienne Raper 
Huntington's Disease affects families as much as individuals; affected parents have a 50 per chance of passing it to their children. This fact makes this book describing the effects of Huntington's on an entire family such a thought-provoking read. And it's funny, chatty and uplifting too...
7 September 2009 - by Ailsa Stevens 
Clinicians should be cautious about offering genetic testing to patients at risk from Huntington's disease to enable them to participate in clinical trials, Dr Sheila Simpson, a Clinical Geneticist at NHS Grampian Hospital, said in a talk at the annual conference of the British Society of Human Genetics at Warwick University....
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