Genetic testing

[LovelyBath77]

For £150 you can send your spit off to USA and have it analysed. I got mine done as have family history of dementia and sure enough have a copy of the APOE4 gene.

They don't advise people to do it for children until they turn 18 and I think I do agree with this. I would like to know if they had it too. My worst thing would be if one of them had two copies of the gene.

What do you think about it? I do know of people who have done it for younger children.

I suppose a different way would be for DH to get tested to see if he had a copy of the gene as well.

Absolutely no way in hell would I do that, privacy reasons for starters. I wrote my thesis on this very topic.

Unless a condition is 100% genetic - lots aren't - then testing would give you false reassurance if it came back negative.

Yes and just because you have a predisposition to a disease does not mean you will necessarily develop it.

My DD is 18 and would qualify for genetic testing on that basis but has decided she doesn't want to know at the moment. I would definitely let them decide for themselves when they are old enough to understand the implications.

I definitely agree on this, my friend is in the same situation although her daughter is much younger. This can be arranged through a GP, not some American website.

I’m not a genetic counsellor but I am a geneticist and a GP really isn’t the right person to ask about this.

Is there any way they can refer you to a genetic counsellor?

You may also want to check the TandC of any insurances you have - often this needs to be disclosed.

Any company that does business with the EU needs to abide by GDPR as well (I think... don’t quote me on that) so you could also request that your data isn’t shared.

You may also want to check the TandC of any insurances you have - often this needs to be disclosed.

Excellent point.

Unless it is a childhood disorder there is no reason not to leave the c choice to them.

Again, I'm an adult and understand the difference between a gene meaning you are predisposed to a disease or a gene meaning an increased risk. I read a lot about it before testing.

I was asking about the issue of having the DC tested. I apologise if that somehow isn't clear from my OP.

You come onto AIBU asking about what the implications are for your family. :Em, no I didn't. I know about the gene and the implications

You admit you've been stressed out by this uncertainty: No, I said it was a little stressful but I'm glad I know.

Ok so I would strongly advise against having the children tested.

Right now, there’s no effective treatment for Alzheimer’s- so there’s no positive benefit to be had from being aware of their risk status but there is a strong possibility that you’d affect them in terms of anxiety etc.

There’s also the insurance angle to consider. This could negatively affect any cover they have.

I honestly wouldn’t (not sure of the legality either.)

I do understand that it’s worrying to have a family history of such an unpleasant disease and I understand that need to know. The problem is knowing confers no benefit. If you did it and found they didn’t carry a higher risk allele then they could still develop AD.

I don't understand why you wouldn't want to speak with a genetic counsellor?

It's completely standard practice for lots of genetic testing

I work in a field relating to genomics, and just wanted to share info about the insurance issue for anyone worried: in the UK there is an agreement in place between the government and the Association of British Insurers so that no one has to reveal the results of a predictive genetic test (unless it is for Huntington disease for life insurance policies worth over £500,000). ABI website here.

Ah that’s good to hear! Thanks :)

Ok, there might not be a cure but there is quite a lot going on in terms of prevention. APOE relates to cholesterol levels and people with E4 tend to have higher LDL and lower HDL cholesterol- it raises the heart disease risk. So it is useful to know about as people with higher HDL cholesterol at midlife and beyond, have a lesser risk.

Since I found out and made some lifestyle changes to reduce LDL cholesterol and raise HDL, it has worked and a year later the ratio is better. I mean, for overall health this is good to know and going to have yearly testing to keep an eye on it.

Now I know I'm higher risk, I can also keep an eye on blood sugars and pre-diabetes and diabetes raises risk (2X with dementia). So being aware is helpful

And of course in the future can get involved in research and perhaps trials which might help with rest of the quarter of the population with this genotype as well.

I don't want to speak to a genetics counsellor as don't feel the need really. What could they tell me that I don't know already.

With the gene which did predispose you to a condition that might be different though.

What could they tell me that I don't know already.

They don't advise people to do it for children until they turn 18 and I think I do agree with this. I would like to know if they had it too. My worst thing would be if one of them had two copies of the gene. What do you think about it? I do know of people who have done it for younger children.

They could answer this question. This is what they do.

Any positive lifestyle changes are a good thing. Vascular dementia is a big cause of dementia as well as AD so keeping an eye on blood sugars and cardiovascular health is important for us all.

Cholesterol isn’t (in my opinion) as cut and dried as lowering LDL=good - it’s a blunt message and not one I entirely agree with tbh. But having said that, the kind of lifestyle changes you make to help cholesterol are good in and of themselves.

It’s a tricky one - it’s one of those things where the testing is ahead of the treatment if you see what I mean. We have so many gene variants that we know cause various conditions but we don’t know exactly how or if we do we don’t know how to treat them.

I suspect with AD we are missing something fairly fundamental - so many years of research , clearing plaques etc and so little progress. To me it says we don’t have the full picture.

I digress - one more positive lifestyle change for you; get enough sleep! There’s plenty of work on how good sleep helps the brain physically clear out ‘clutter’ during deeper sleep. Matthew walker I think the researchers name is.

But anyway, I wouldn’t test the kids. Not until they’re old enough to consent themselves

No I won't test them It was worrying to notice on a Facebook group for the gene, someone was saying they had children tested and they were 4/4.

I didn't realise genetic counsellors would advise on this gene as thought they were mainly about e.g. genes like BRCA or the other, early onset type genes which definitely meant you get the disease.

Yes there seems to be a lot of research going on and I agree cholesterol is complicated. and yes blood pressure is a good thing to watch too.

In terms of lifestyle changes it seems a mediterranean diet type can be helpful and possibly intermittent fasting and exercise. there are good studies on higher vitamin D and HDL, being protective too, and research in HRT as well. So there is stuff to do about it.

It seems the process can start years in advance and yes sleep being important as well.

iv done the 23andme on my son whos 5 to find out some information.

it confirmed what i wanted to know.

My son is now going for genetic testing a our local hospital

I don't want to speak to a genetics counsellor as don't feel the need really. What could they tell me that I don't know already.

Why are you asking on AIBU if you already know everything and know exactly what you want to do in that case?

The whole point is that they work through your options with you and to consider all the implications of different choices to work out what's the best route forward for you and your family

If you're asking AIBU, it seems bonkers not to consider a trained genetic counsellor instead of a load of randoms on MN

They are the experts - as I say I have a long research background in genetics mainly from a human health background and I would t be confident counselling. It’s certainly worth asking if you can access it.

@nomorespaghetti my son also has unexplained profound hearing loss and we recently had the results of his genetic testing back. Such a relief to know that the cause for the hearing loss is not genetic. It was stressful waiting for the results and it took many months - I wouldn't recommend anyone put themselves through genetic testing unless absolutely necessary.

I actually found it quite interesting, it can tell you quite a lot.

I don’t like the sites that match your data to cousins and that rubbish. Who wants all their dna data out there for all to see.
On the other hand, my mother was very convinced she had a genetic propensity towards cancer ( with extreme good reason but no proof) and because she didn’t fit the criteria the labs refused to test her. So they literally had all the power over her future health but didn’t tick all the boxes. Eventually she paid nearly 2000 euro to be tested in a private lab which broke national guidelines in testing her. And within months she had preventative surgery which may be lifesaving. She could be dead without the tests that the government labs refused to do. So from my point of view, your genetic information is your own and you should have the power to request it and do what you want with it.

What I think about is... you could get hit by a bus tomorrow & have wasted a lot of time on this type of thing. Too much effort to get too much uncertain information. Even raising risk by 12-15x isn't saying 100% will happen. Even reducing to 0.1% doesn't mean won't happen.

What do you think a mediterranean diet is, OP? Does it include any pasta?

But if it’s one of those rare genes that has an 80 percent chance of causing disease and there is something concrete you can do about it, it’s very different.

All the things OP should do "about this gene" are things OP should do anyway to prevent heart disease & diabetes & cancer & other problems.

Maybe some people need to be scared in order to do healthy lifestyle things. What do I know.