Subscribe to the BioNews newsletter for free

Login
Advanced Search

Search for
BioNews


Printer Friendly Page Follow BioNews on Twitter BioNews RSS feed

 

Login




News


Huntington's disease gene test should be offered with caution, says clinical geneticist

07 September 2009

By Ailsa Stevens

Appeared in BioNews 524

BioNews reporting from the British Society for Human Genetics (BSHG) annual conference in Warwick:

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.

Dr Simpson says: 'Research into Huntington's disease has progressed significantly in the last decade and there are now a number of very promising new treatments which could enter clinical trials within the next few years. Many families see this as a potential lifeline. This could prompt those at risk of Huntington's disease to undergo testing without considering the full implications of the test.'

Huntington's disease is an inherited neurodegenerative disease leading to personality changes, involuntary movements, cognitive decline and eventually death up to 20 years after diagnosis. Those with an affected parent have a 50 per cent chance of having inherited the gene and developing the condition themselves. Symptoms do not usually become apparent until middle age, which is often after the person has had children of their own.

Some of the first clinical trials of new treatments that could slow down progression of Huntington's may start soon, and many others - shown to be effective in animal models - are being explored for testing in humans. Research shows that at present only 15-20 per cent of patients with an affected parent opt to be tested to find out whether they have inherited the Huntington's gene. This may change, as new hopes for treatment emerge.

Dr Simpson says: 'This test is an incredibly powerful tool which effectively allows patients to find out their future. Both favourable and unfavourable genetic test results can have serious implications for the whole family, and surprisingly it's often those who receive favourable results who find it hardest to cope. Depression, marital breakup and sometimes suicide can occur following test results and I believe it is essential that patients of all ages continue to receive adequate preparation for testing which is appropriate for their individual circumstances. This will ensure that those deciding to take a test are doing so for the right reasons.'

 

SOURCES & REFERENCES

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

05 July 2010 - by Jay Stone 
Two papers published in the Lancet have suggested that the number of people in the UK suffering with Huntington’s disease (HD) may be double original figures and that patients are failing to be diagnosed due to the stigma attached to the illness...[Read More]
04 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...[Read More]
24 January 2010 - by Charlie McDermott 
A nursing director from the UK's National Health Service (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',...[Read More]

HAVE YOUR SAY
Be the first to have your say.

You need to Login or Register to add comments.

By posting a comment you agree to abide by the BioNews terms and conditions

 


 

- click here to enquire about using this story.


submit to reddit
Delicious delicious
Facebook

Share on Tumblr


Printer Friendly Page


BioNews Appeal: Please donate HERE to keep BioNews independent and FREE to read


The Progress Educational Trust has been shortlisted for the Charity Times Awards 2011

Good Fundraising Code


Advertise your products and services HERE - click for further details