Is the GGG (Giant Genetic Genie) out of the Bottle...?

If you have not read the precursor forum posts to this blog about genetic screening - it would be wise to do so now..as this blog is the continuation - and expansion - and projection - of maybe things to come. Maybe good things to come in relation to screening for AD. Or maybe not. As the 'Genie in the Bottle/Lamp' said.. "Be careful what you wish for"...

The Genetic Test for Aortic Dissection..
We are advocating that we/our families get screened for susceptibility to Aortic Dissection. We know that the University of Texas in conjunction with the John Ritter foundation have developed genetic testing for 'predisposal' (my words) to Aortic Dissection. This genetic test identifies a gene called ACTA2 that appears to be responsible for vascular (blood vessel) disease. The technical name for the mutation is G48V (DNA change G 190T in exon 3). In the case of the gene called ACTA2, mutations may lead to problems in the smooth muscle cells in the walls of blood vessels. When the gene is altered, these muscle cells may not contract as well as they should. Great News! 'My wishes have come true! - Let's go for it' I said. - Get my children and my brothers and sisters screened. Ah! - Be careful of what I wish for ..I might just get it..

The Genie is about to come out of the Bottle..
What happens in the brave new world where/when we can all have genetic screening? Who plays God?. Who lives - who dies? What happens with pregnant women/couples when screening for heriditary diseases? What would happen if their was a definate possiblity that an embryo carried the AD gene - or for that matter any other of hundreds of genetic markers that signalled a genetic train wreck? Who decides what to do. In my case I had a wonderful life (and still do!) prior to my catastrophic AD experience. So what would have happened if when I was in my mothers womb - and my parents had the opportunity to have the test. And then were advised that I carried the AD genetic weakness gene - and decided to pull the plug - and I was aborted? Well, firstly I would not be writing this..! Secondly - I would have missed out on a GREAT LIFE! Thirdly - I might NOT have had my Aortic Dissection. This scenario could also apply for tests for hundreds of other genetic predisposals. For instance - What happens if you were genetically predisposed to Breast Cancer??

The spectre of genetic testing used for employment selection as well as insurance also looms large in other parts of the world, such as Australia -where NO protective legislation exists.

Health Insurance/ Life Insurance and Genetic Testing
Here's some sobering information. US Congress in 2008 passed legislation prohibiting Insurance Companies from asking for genetic tests for any person prior to taking out life or health insurance. However - a grey area.. as they can ask/demand a test (to the best of my knowledge) if you know you have a genetic abnormalty. Again, as I understand it, from the results they can also refuse/lower coverage on health/life Insurance. In the UK we have a similiar situation - but even more of a time bomb. The ABI (Association of British Insurers)moratorium on providing the results of genetic testing for insurance that was in place until 2011 has now been extended to 2014. This enables consumers to take out a MAXIMUM of £500,000 life insurance/£3000.000 critical illness insurance only * without having to disclose adverse results of predictive genetic tests. ( *That's a pretty scary statement...)

So what happens in 2014? I for one - will wager all the fat ducks on my duckpond (30 or more!) that given TODAYS NEWS IN THE UK on genetic testing that the moratorium WILL NOT be continued.

What News?
(Or - Is the Genie about to wriggle out of the Bottle..?)
UK Couples offered Counsyl Gene Tests for 100 Inherited Diseases
The Times; Monday 08 February 2010:

Here's some of the story (truncated):
"British couples are to be offered a groundbreaking genetic test that would virtually eliminate their chances of having a baby with one of more than 100 inherited diseases. The simple saliva test, which identifies whether prospective parents carry genetic mutations that could cause life-threatening disorders such as cystic fibrosis, spinal muscular atrophy or sickle-cell anaemia in their children, is to be launched within weeks in Britain.

However, the test, which is being launched by the Bridge fertility clinic in Central London, is ethically controversial. Critics argue that the diseases it detects are too rare for most people to need screening, and that it will cause needless alarm. It is also likely to raise demand for embryo screening and abortion. There are further concerns about medical supervision. While the Bridge clinic will offer it only in conjunction with genetic counselling, Counsyl,the American company that developed the test, also plans to sell it directly to British customers over the internet, for home use without medical advice. (!!!)

The Counsyl test is a new departure because it screens for multiple conditions simultaneously and is marketed for the general population rather than high-risk groups. It is already offered by several fertility clinics in America.

However Frances Flinter, consultant clinical geneticist at Guy’s and St Thomas’ Hospital, and a member of the Government’s Human Genetics Commission, said the test has an uncomfortable “eugenic flavour”.
(BR>
“It plays unnecessarily on people’s fears,” she said." Full story HERE:

So - back to Genetic Testing for AD: Future testing everyone for AD? /Testing AD survivors Families? I am at a cross roads here. Morally, ethically and personally. What do the members of the group think? What is your stance.? I have NEVER taken a stance on pro-life/anti life. I have all my life ducked the moral issue and intended to for the rest of it. However the whole question of genetic screening now concerns me greatly - and not just our small part of the equation. ALL contributions gatefully accepted..

Graeme Archer
Founder: Aortic Dissection Forum UK

Other Supporting Links:
http://www.sor.org/public/news/news52.htm
http://archive.student.bmj.com/issues/09/02/life/52.php
http://www.govtrack.us/congress/billtext.xpd?bill=h110-493
http://www.abi.org.uk/Media/Releases/2008/06/40026.pdf