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Aortic dissection, aortic aneurysm - The aorta - Life after an aortic dissection

Genetic Testing..is the GGG (Giant Genetic Genie) about to escape the test tube... & change our lives forever??

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 and my parents had the opportunity to have the test. And then were advised that I carried the AD genetic weakness 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 an 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. The
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:

Heres 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

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”.

“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

More 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

Views: 200

Tags: acta2, aorta, aortic, dissection, genetic, genetics, screening

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Comment by Graeme on February 22, 2010 at 16:16
Marion..

A great post. I am actually where you are on this but the growing trend by governments to award huge life science contracts with associated life changing tests, monitoring, etc etc and the associated HIGHLY SENSITIVE personal information that is finding its way into the public domain from these companies is a great worry to me. I also - as one who has had an AD have no moral issues wiht getting my family checked for the AD2 gene and if Breast Cancer was in th family - or any other KNOWN genetic default i would have that checked as well. But testing for the sake of testing without a reason......jury is still out for me...

A great post Marion. Thanks! Hope you are well and getting to grips with life post AD..its not easy but keeping busy is the big secret!

cheers

Graeme
Comment by Marion Millington on February 22, 2010 at 14:38
Genetic Testing would you want to know?

I had to think about this one Graeme!

This is such a difficult question – Since my AD in 2008 I have looked into my family history and have found that there are no instance of dissection or aneurysm in my family for the last three generations, but there is cancer in many forms breast, chest, throat, and brain there is alsymers, my father was born with a heart defect which has subsequently caused two heart attacks an enlarged heart and now at 82 has a pace maker but he did smoke for 40 years, untipped and the cigars, he also drank what would be considered today to be well over the recommend units although I’m sure at the time he never gave a thought that what he was doing would affect his health, he looked like Clark Gable so a cigarette and drink were essential.
I think what I’m trying to say is for those who already have a predetermined family history, I heard of a family in the US who lost the father and his two sons had dissected before the age of twenty, it may be essential to identify who else in the family carry the gene for these people the living or dying with AD is a distressing part of everyday life and because of their pain and loss they may want the test. Insurance companies already mark these people and therefore they already have nothing to lose as the danger far outweighs the consequences

As for the rest of us, I think there is a growing culture which wants to find blame where there is illness, I have been asked lots, “what did or didn’t you do to cause your aorta to dissect” did I drink, smoke or eat too much and if that isn’t the case had I been involved in an accident or was there a family history???

So would I want to know if I was genetically pre disposed to any life threatening condition? Well there is a yes and a no answer.

Yes - if there was a family history and where something could be done to improve the quality and quantity of your life, "however it shouldn't be available off the shelf" and should be avilable with the support of councilors the results should be confidential, the only questions asked by insurance companys should be historical, their business is identify risk and genetic testing is not a certainty.

No - if it was just a spectrum of tests at the beginning of your life for which you are labelled with for the rest of your life, remembering that the average age for dissection is 50-55. I think this could lead us to discrimination on a scale we have not even seen yet, not just insurance companies, but questions coming up like, is it worth educating these people, should we pay for their healthcare and worse still do we want them in our society; you may think that this is a big jump but there is a growing discrimination toward disabled because their “defects” are on show then it is a small step from there to discrimination against those who are not quite perfect genetically. We need to be so careful as are society moves toward this religion of celebrity and perceived perfection.

As for the question of parents wanting to know if they are carrying genes that might affect their child future well being, I believe this is a personal decision that should be made by them and them alone. Everyone is different and therefore no one should be pressured one way or the other, if they want or need the test then they should be able to get it after that the choice is theirs. For me as a parent my children would have been welcomed and loved with whatever they came with, but that is just me and there is no judgement in that, and it might have been very different if I had a child with CF or any other condition that cause long term suffering for the child.

As for me I wouldn’t change anything in my life good and bad it’s what makes my life what it is today and I love it, every experience is a learning opportunity, what we take from it is up to each of us.

So would I want my children or Grandchildren testing - well all I can say is what I've done which is make all family member aware of what happened to me, asking them to keep an eye on their blood pressure, be aware of symtoms and if thing should go wrong shout and scream untill someone listens, tell them your family history and get them to check. Then again I want to shout a sceam untill everyone knows about the symptoms of AD anyway so everyone has the chance!

I know this is a very simple way of looking at the whole issue and I know once you let the genetic testing genei out of the bottle, it is open day for all the greed and discriminatory issue to come to the fore and sometimes I think we bow far too much to the mighty £; but this is also about our society, do we trust ourselves our we trust worthy???
Comment by Graeme on February 14, 2010 at 12:45
Richard. Great Post. As I said I am at 6s and 7s on this one...I don't trust ANY GOVT or any company involved in Genetics. Period. I also don't trust any insurance company - health life - whatever. Absolute horror stories coming out of US about denial of insurance cover for AD.. As for testing for the rogue acta2 gene..yes someone might have it but it actually causing an AD is another thing..(??) and if we run the flag up the flagpole on this the insurance companies 'could' include it as a 'risk' gene and 'could' then deny normal healthy people with the gene any insurance whatsoever - life house health whatever.. brave new world...ha!
Also hope your rash is getting better.. My meds seem to be quite stable and have not got or had any reactions for years now..fingers crossed! take car.thanks for all your help with forum.. Graeme
Comment by Richard Deal on February 14, 2010 at 0:07
hi graeme,

i don't know about this one - it is a fairly extreme projection and i don't think it does anything else other than scare the mcsh*t out of people. that said, i wouldn't put anything past any government or insurance company at the moment as civil liberties and personal privacy have seemingly been cannibalised in the name of 'anti-terror' (i much prefer auntie here, but we can't really blame the bbc can we?) and maximising profit, minimising risk...

the thing that sickens me about all of this genetic lark is that since decoding the human genome countless bio-tech companies have emerged and innumerable patents have been taken out on sections of our genetic code on the "off chance" that that particular section is found to control such things as the bodies cancer fighting mechanism, or even something as ridiculous as aging... i guess some people still find the bookmakers beneath them... perhaps someone has the patent on G190T exon 3 and we are being unwittingly sucked in to allow someone somewhere to make a quick buck...?

i was speaking with my dad about the acta2 subject earlier on in the week because we share rashes and up until recently were taking one of the same tablets. my cardiologist decided to move me off the offending tablet though and onto more heavy duty blood pressure medication and the rash stayed. before i changed dad and i were of the opinion that the rash was a ramipril side effect... the truth may be a whole lot more sinister.

the crux of the matter for me is, my AD was thought originally to have come from a bicuspid heart valve, which everyone in my immediate family has been tested for and cleared of. now that the ACTA2 thing has reared it's ugly head that is going to be another test for everyone to go through. when i told dad about the rash and that i was fairly sure it was because of actin problems he said he would have rather not known, which i fully understand as there seems to be nothing you can do about it anyway. now he is convinced he is some walking time-bomb that WILL explode, not just may...

my family is sensitised to aortic dissection through almost losing me and i "champion" the cause by ramming the "don't take any chest pain, or lower back/abdominal pain for granted" credo down their throats every chance i get. i find the idea of genetic testing after the fact a little pointless - why would our families need additional genetic confirmation when they have us?
r
Comment by Graeme on February 11, 2010 at 10:49
hmmm..bit quiet on this one.. ;-0

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