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.

Would you go against the recommended treatment regime of an oncologist based on this test if they didn't think it was valid?

What I would do is shame the info with them to start with, before starting the treatment, like with the GP. They so seem to be doing this kind of thing more and more with things like cancer anyway. It makes no sense to start something which won't work.

With NSAIDs, no don't use them anyway but would be more wary of doing so in future.

Have a family history of cancer and my genes show this variant but it has been shown in studies to be helped by taking baby aspirin so that's something to think of too.

But woe betide we are self aware and want to hep preventatively with our health.

share the info

For example

www.sciencedaily.com/releases/2008/04/080429170256.htm

and

www.ncbi.nlm.nih.gov/pmc/articles/PMC4251363/

"such methods can be used to assess a patient’s risk factors for a number of conditions and to tailor individual preventative treatments. Recent advances, challenges, and future perspectives of personalized medicine in cancer are discussed."

Personalised cancer care as listed in that article is so far away from the 23andme test it's ridiculous. I was at a conference last year where the actual application on such testing was being studied - studied - in children with outcomes measured. There is no way you can guarantee whatever 23andme test for will be remotely applicable to any cancer you might get. It makes far more sense - and this is what is being trialled - to tailor treatment based on genetic and proteomics according to diagnosis.

How can you take baby aspirin if you're going to avoid NSAIDS from now on ?

My point is while people are being armed with information, they are not being armed with knowledge. The implications of these random tests aren't discussed beforehand. Your mix up with NSAIDs/aspirin being a classic example. And implications for children is significant and raises huge issues of consent. Not to mention the potential impact on relationships. So you find out you're a carrier for one of those conditions, say, Batten disease, a truly awful condition. What if your partner doesn't want to get tested? What if you're pregnant when you find out or soon after? What are you views on termination? What are options if you're both carriers? These are all things that should be discussed before a genetic test so you're fully informed as to what you're getting in to.

I am not against knowledge, I'm against the undermining of the principle of counselling regarding such sensitive issues, while collecting personal DNA information for financial gain. It's money over people.

If our DNA is so valuable, why aren't we being paid to provide it? That model would be the easiest of all to implement. Something doesn't add up.

Am trying to read thread carefully but still not seeing any harm to me or wider society that a) these companies get my own DNA data or b) these companies get population level statistics about gene frequency.

Sofia's dad has an h-index around 143 (Google scholar). Which is quite impressive. I think Einstein's is below that.

They aren't paying people because people are providing it willingly! They're paying to provide it! Why would they give that up?

The damage to wider society is the ultimate relinquishment of privacy. For someone else's profit. It's poor quality medicine. They don't get any more information about gene frequency than is already known.

Would you go against the recommended treatment regime of an oncologist based on this test if they didn't think it was valid? Absolutely. I would make sure that they were aware of all the information out there...especially the latest information. Personally, I have been in this situation. Before his genetic testing and subsequent diagnosis, my ds was prescribed the standard medication for his migraines. It didn't work and even seemed to make him sicker. We found out a few years late, after the genetic testing that the medication he had been prescribed was actually extremely dangerous for him and could have caused a stroke. His GP and neurologist weren't bad doctors, they just weren't working with all the latest information available. In fact, both of them went to lectures on ds' genetic disease after he had been diagnosed and have diagnosed his disease in several patients after him.

Wow. I didn't know about Google Scholar's H-index. I will have to tell my dad. He's a little down right now because he thinks no one is listening to him about taking Vitamin D and supplements in general.

OK so the paper I read on the NSAIDs said this

"CYP2C8 and CYP2C9 gene variations cause decreased enzyme activity towards the NSAIDs aceclofenac, celecoxib, diclofenac, ibuprofen, indomethazine, lornoxicam, meloxicam, naproxen, piroxicam, tenoxicam and valdecoxib. This impairment in drug biodisposition alters drug pharmacokinetics, with carriers of detrimental mutations displaying increased values of AUC and decreased drug clearance."

See www.ncbi.nlm.nih.gov/pubmed/19422321?dopt=Abstract

It didn't mention Aspirin in the list but yes in that case it is perhaps best to avoid the baby aspirin.

Ok on checking further it seems it is just some of the NSAIDs, as mentioned here. www.snpedia.com/index.php/gs191

These too for example look useful if you were prescribed such drugs, no?

www.snpedia.com/index.php/rs1142345

www.snpedia.com/index.php/gs127

Although eh best thing for me is the support and info available from sites like APOE4 info

www.apoe4.info/wp/welcome/

Again, it's being handed information without any knowledge. You're having to seek out the knowledge yourself after the fact. The interpretation of risk is not being done with the help of a medical professional. I view it as having a brain MRI, being given a copy of the scan and being told to go and figure out for yourself if there's anything wrong. That these people do tests with no responsibility regarding the results is poor quality medicine. What if someone does the opposite of you: gets a result back about NSAIDs, assumes that means aspirin, stops their aspirin and has a heart attack? Who's responsible for that?

I have done the 23andme thing and found it extremely helpful. I discovered that I was homozygous for Factor V Leiden, which led to my coming off hormonal contraception (it's contraindicated due to higher risk of DVT). It might also affect my treatment if I had surgery in future, so I am very happy to know about it.

I did it under a fake name as I didn't want it to affect any insurance that I choose to purchase in future (currently it's not something that's asked about but I was concerned that it could become an issue in future).

I wouldn't do it for a child. Ethically, I think it's their choice to make when they are old enough to legally make a decision. It's also quite heavy stuff. You might not want to know.

I'd probably encourage your DH to go for it, though, under a fake name, if he wants to.

If I'd turned out to have a copy of the APOE4 gene, I would probably take extra time and care making a living will (advanced life directive) that outlined things that were important to me if I became unable to make my own decisions. I would also choose a power of attorney and set that up in advance. With that said, we should all do those things anyway!

I don't really understand why you wouldn't do testing for a child. It's knowledge about their genetics...it's not something that might go away when they get older. And if there are some risk factors that are important to know....Of course you give your child age appropriate information. For example my ds' 23andMe came back as having markers that indicate that he may be more sensitive to Warfarin than the general population and his more detailed genetic testing for the regions related to his mitochondrial disease came back with a marker saying that he is at higher risk for Malignant Hyperthermia. Neither condition requires treatment at the moment, but both are important to know if he has surgery and it could save his life for the doctors to be aware of the possibility and plan accordingly. This isn't an invasion of his privacy, it's just keeping my child alive. I didn't tell ds when he was 10, but now at 17, it's important that he knows as he will be taking charge of his own life soon (or so he thinks).

And NotBad I always double check what the doctor tells me about any test results that I have. I certainly requested a copy of my brain MRI when I had one and a copy of the report that went with it. And if it hadn't been completely clear that I did not have a brain tumor (turned out that my facial numbness was TMJ), I would have consulted multiple doctors before getting my head cut open. And in fact that same MRI included my spine and they found some degeneration in a few disks and wanted to do surgery and/or PT and I said absolutely not because it wasn't serious and wasn't troubling me. I NEVER just rely on what one doctor says especially if it's not a specialist.

I don't really understand why you wouldn't do testing for a child.

Because it takes away their autonomy and is indiscriminate. Take BRCA for instance. What if you test a daughter and she's positive. What if she gets to adulthood and would have preferred not to have known? What if she decides she hates you for making her live under a cloud of uncertainty about what to do with her breasts and ovaries from such a young age? The same could be said for lots of the other conditions. Some of the testing 23andme do can be useful but some results have significant emotional implications.

Malignant hyperthermia susceptibility has variable penetrance. Have you spoken to anyone about doing a more definitive test, for example a muscle biopsy? Did 23andme tell you that's what to do? Or is your DS just going to continue with this vague uncertainty throughout his life as what the test means in real life?

NotBad there are many things that I know about my dc's history that I have to make decisions about whether and when to pass on to them. That's my job as a parent to do this wisely. No child is autonomous...and the only thing that's indiscriminate (to a certain degree) is the chance that they actually have a harmful genetic anomaly. If my dd were to be positive for BRCA (she isn't, as it happens), I would wait until she was older and let her make the decision as to whether she wanted that information or not. But more importantly, what if my child had a genetic marker for something that was relevant to them during childhood (actually, no what if's...my child does). I would be remiss as a parent to not obtain any information I could that could potentially save my child's life. In any case, I don't believe that one should avoid all potentially emotionally charged information in life simply because it's emotionally charged. It's really no different than the decision to tell my dc's the real reason I divorced their father. It was age inappropriate when we got divorced...but potentially essential information at some point in their lives.

Regarding the Malignant Hyperthermia...that did not come from 23andMe, but rather from the additional more definitive testing that was done because ds has a rare genetic disease. And at this point, what he knows is the most certainty that is available, which is that he might be susceptible. This is absolutely absolutely adequate information for my very bright and mature 17 year old who is more than capable of understanding "what the test means in real life" and frankly was capable of understanding it at 10 when we got the results. The point of that example is that Malignant Hyperthermia is fairly easily prepared for by the anesthetist during surgery if they have that information and completely harmless if appropriately prepared for. Why on earth would I risk my child's life by not obtaining that information because it might take away his autonomy...Autonomy is pretty useless if you are dead.

So if your daughter had tested positive for BRCA how would you have broached that? If you mention you know but don't want to tell her the result, it would be hard for her to not think she's positive. If she refuses throughout her life would you be able to hold back against her wishes as she approached a high risk age? It's all theoretical for you now of course but did you receive any counselling before you tested your daughter in case this scenario had arisen? Very few of the 23andme tests affect childhood and it doesn't look like you can pick and choose much. As far as I can see from their website: coeliac disease, easily tested for specifically. Gene tests don't mean anything unless your antibodies are raised or symptomatic. Same with alpha 1 antitrypsin def and G6PD. None of the carrier status tests needed in childhood.

If the malignant hyperthermia was done as part of testing for another condition it isn't really relevant to my concern. My concern is the ability to send off tests for significant diseases without counselling being required. Look at their US website now: they're offering a Father's Day 30% off special! What kind of medicine is that?

The Times has an article about privacy issues today, link with share token:

www.thetimes.co.uk/article/privacy-fears-over-flawed-dna-tests-spcxscw83?shareToken=59b987e822264c5208650d57e1ca587f

I had genetic counseling which was less than useless. Lots of info on how genes worked but zero emotional support.

Times article seems to be mainly on Ancestry tests rather than medical info. Yes I would share the info with doctors to share in my care, which for now they seem to happy with.