Thyroid UK

DIO2 Testing - Word of Caution 23andMe

Just in case anyone is planning on getting testing via 23andMe to check your DIO2 genes, I've just got my report through last weekend, having ordered it in the NY (Christmas pressie) However, they do not seem to be genotyping the DIO2 rs225014 gene on the current platform. (And possibly others) I've asked why and await their response. Frustrating to say the least!

If anyone knows any more about this I'd be interested t know.

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I think this Is the gene linked with hypothyroidism? I don’t know much about it but came across this paper recently which suggests if you do have the gene T4 and T4 combination therapy is better which I I thought was interesting. Are there other companies testing for this gene and others that can inform us better about what treatments would suit us more?

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Did you mean to say T3 and T4 combination therapy. And is that one or both of NDT or synthetic

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T3 and T4 combination is synthetic

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Why do you say that? Isn't desiccated thyroid a form of T4 and T3 combination therapy?

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I thought that NDT was t4, t3, t2 and t1 with calcitonin was natural and all the rest were synthetic. If not, my apologies. Jo xx

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Who knows how much, if any, T2, T1 and calcitonin are present in any make of desiccated thyroid? Indeed, in any single tablet!

The manufacturers make absolutely no claim about the presence of these three substances (although RLC do say there is, or is likely to be, some T2 and T1). And we know next to nothing about the ability to deliver them via a tablet even if they were present. Also, the calcitonin present will be porcine which is different - the significance of the difference is totally unclear to me.

The fundamental point is that desiccated thyroid delivers T4 and T3. Synthetic levothyroxine and liothyronine deliver T4 and T3 (whether as separate tablets or combined as in Dithyron). Both are forms of combination therapy. Yes, there are differences and some may do better on one than the other.

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It is. It can indicate the ability/ impairment to convert T4 to T3. People were getting this testing to be able to show GP's that there was a reason they needed T3. Seems too much like convenient timing to stop checking it.

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I had test done with 23andMe but it didn’t tell me anything about my thyroid function. I got a kit from Regenerus labs to test whether I had a DIO2 gene conversion problem. Results showed I have a heterozygous gene, meaning one of my parents passed on a faulty gene to me resulting in a reduced ability to convert T4 to T3. Being able to show my doc this was instrumental in getting Liothyronine prescribed.

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Yep think I'm going to have to do that one too.

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That’s a bloody great idea, LuckyLady!

Was going to get a 23andMe done for my husband for his birthday after my brother had his done and learned loads.

Unfortunately for me, DNA can hugely vary between siblings, so my brother’s reading wasn’t enough to avoid paying out for my own.

Which I will still swerve now I’ve seen Regenerous might work better in the way you mention, Fortunata mia!

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It depends on what you want it for. The Regenerus I think will be just the DIO2 testing. 23andMe will give you Ancestry stuff. It did also give me info on the MTHRF gene. The point I hope I was making is be sure of what you are ordering, and that it is giving you what you want. If in doubt check.

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It is a lot of money to spend if it is not what you want.

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Yup, you’re quite right. 23andme showed that my brother had the MTHRF gene, but he hasn’t got any thyroid problems that we know of (though our Mum does: she’s hypEr unlike my hypO) so I’m not sure quite what that means if he has no issues at all!

Is Regenerous better than this one, I wonder?

bluehorizonmedicals.co.uk/t...

I was just thinking of doing the DIO2 for the reasons Fortunata said: to backup my T3 argument so I don’t have to self-prescribe anymore...

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My mother I would swear was HypEr, though had TC,two sisters and an aunt known to have/been HypEr.

I think you need to really look into the differences between Regenerus and Blue Horizon to make your own mind up as to which is better for you.

If you are in the UK I'm not sure that having the DNA proof will mean you will get it prescribed, but does give some bargaining power.

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That’s what I was thinking...

Thanks UrsaP 😊

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regenenerus labs will do the test or you

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Yes thank you...it is in hand. Just frustrating that 23 have stopped and I cannot get a straight answer as to the justification for why!

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I have been thinking about this test but I might reconsider it now.

Fortunately my doctor can order me DI02 test as they think that could be the culprit in my case.

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Wow Justiina is that a NHS GP ordering a NHS test?

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Justiina lives in Finland :)

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Ah!

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Wow from me too! I posted because people need to make sure that if they are having DNA testing, looking for this specific gene, then 23 is probably not the best option. From my further enquiry to them, apart from the fact they seem to be not answering questions I ask and answering one's they choose, they have said that they cannot test with 'chip v4' as their stocks of this chip are depleted. That even if they decide to check the rs225014 gene in future they can not report on it as it is 'proprietary information'?? (I'm thinking yep my proprietary info surely?) How come they have been reporting (genotyping) this gene up until this new chip. Basically the information they give you from one 'platform' or 'chip' version to another can change, and we don't know what we are going to get. There is a notice to say they updated in July last year, and that the number of checks have changed, or something to that effect, but perhaps they meant no of checks reduced! Getting less for our money! And my cynical mind questioning why this particular gene has been knocked off the checks? Background checks on company needed.

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Exactamundo! Sounds weird suddenly DI02 isn't included.

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Reading around, it looks as if the FDA got involved and started calling the shots.

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Why I am not surprised! Like cFS research, they say there is no money but researchers have offered to do it anyway and what does FDA do? FDA ignores them!

And as you know FDA seems to ignore all European studies of thyroid issues. In Finland endos go on and on about American authorities and go mute if you ask but how about recent studies done in Europe. They pretend they didn't hear you.

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Yes it does seem that by repeating mantra's they can just ignore the issue! Stock reply. And hopefully the little people will eventually get fed up of not being able to break down the brick wall and they will just go away and do as they are told - accept their lot!

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Exactly! It's just beyond ridiculous they try that tactics during days ANYONE can Google and find proper information. If you dare to do so they say it's humbug even if it's exactly the same information doctors have access to. Like how long they think they can go and play this game , they keep getting busted on all corners and actually are already cornered and still they keep insisting they know better. Doesn't matter how many studies you show them they just keep pretending it doesn't exist. If it wasn't about our health it would be so funny.

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It would make a great comedy! What I can never understand is why these so called eminent specialists' around the world, when it suits, cannot accept evidence just because it is conducted or reported in another country? What makes one piece of 'evidence' better than the next, when most of it is paid for by those who are going to benefit from the 'predicted' outcome!

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Thanks for the heads up UrsaP :-)

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I'm pretty sure I'd read a post here (some time ago now) that the DIO2 was no longer included in the 23 & me test. Finding the post could be tricky though

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Really, that is the trouble, it is too easy to miss important posts like that as this forum is so busy. Wish I'd known. How many others have ordered the testing not realising that this is not now included and why did they pull it I wonder? Are other's still doing it does anyone know? Looks like more expense coming up!

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It must have been at least a year ago but can't say with any certainty. There is a post on one of the face book pages could be ITT maybe thyroid hub for regenerus testing at a wholesale discounted price. Late last year some time. Sorry a bit vague. If I find it I'll give you the link.

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Yes. I've just read an FDA document to 23 from April 17 - authorising certain reports- limited to 10. I do recall the post on ITT and have just asked about it. Will get it done if I can while I can before it is stopped by them too!

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Yes, I think I read that it used to, but the amount of thyroid stuff they include was reduced some time ago.

BlueHorizon now do a package of thyroid relevant genetics. It includes Dio2

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Yes ~ I saw that and I can't remember the suggested reasons for it being no longer included, but I do recall being suspicious about it😳. I was thinking of doing it ~ hoping to find out why my brain only stores a small amount of the info that I read on here lol!😊

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Ha ha... yes I think some of the genes do mention concentrations and memory...

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Given the plummeting cost of whole-genome sequencing, 23andme not including sequences known to have medical relevance will end up pushing people elsewhere. A recent article in Wired:

Today, a fully analysed whole-genome-sequencing test costs about $600 and takes just a few weeks to complete.

wired.co.uk/article/precisi...

(It almost looks as if the people who offer DIO2-only testing have influenced 23andme. And it makes the cost per gene look astronomically inflated when only a very limited analysis is done.)

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23andme was challenged in court if I remember correctly a while back by the U.S. medical establishment. I don't think they wanted them around. I wonder if this is the offshoot, more limited testing?

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Yep. Just reading correspondence between the FDR and 23 on the FDR site, seems only authorised in Apr 2010 to report on 10 conditions or diseases, so guessing that anything before that dr's can say is not ' reliable'? Why are they so scared of us knowing about ourselves?

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You require the $2000 plus consultation first!

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I don't !! LOL.... Big brother eat your heart out...we little people obviously cannot cope with knowledge!! I understand some people might get info and be frightened out of their wits by what they find or think they find. But that is why they mention to go for counselling first, or at least think carefully about what you do or don't want to know. And that is a personal choice.

Why is someone else allowed to keep information, that is our own personal information, from us? Surely the choice is do we want to know or not?

My mother diagnosed with terminal thyroid cancer, when asked how she was/felt about it, said she was fine. She had it. Knowing about it or not did not change that. And she just got on with it. It just meant that every day following that diagnosis was precious and appreciated and quality time. I honestly believe that it was this positive and realistic attitude that helped keep her going and active for over two more years.

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In the states people seem to worry the information could be used against them in obtaining a health insurance plan or even future employment. People seem to feel strongly one way or another about these tests.

My American father has a German name. My older sister tested herself using 23andme & she did not show a drop of German blood. So I tested & did not have any either. I think there was a adoption on my father's side somewhere down the line but this was not something my elderly father could wrap his head around. He would not test ... It is all quite interesting as far as I'm concerned!

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OH agree some of the ancestry stuff is quite fascinating I've only just started looking and hoping to get further on the family tree with it but...just frustrated re the DIO2 etc side of it. I did 23 as it was recommended to me but should have researched it further first.

Lesson learnt!

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I had mine done by 23 and me a few years ago and then uploaded the raw data to both livewello and promethease. I have received a lot of info from these two sites and it has been very helpful for me. I have Hashis and seem to have a family history of thyroid disease on both sides of my family.

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I think 23andMe were reporting on the DIO2 gene 225014, whereas they are not now. And by the sounds of it they will not be doing in the future. The info reported on across the DIO genes seems to be very limited. And not as helpful as it was in the understanding of thyroid function.

I've uploaded my 23andMe into Promethease, Finding that pretty easy to follow, so far.

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I don't know more about this test but I am assuming you've read the following from TUK.

thyroiduk.org.uk/tuk/testin...

janeroar Wattsea Stourie Abi-Abster Justiina

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Thanks Shaws - I hadn’t! Great stuff: very useful indeed.

Definitely important to get the right test.

Hopefully UrsaP you can remedy this soon!

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The ball is rolling!

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So will mine be once I have funds!

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Thanks Shaws. Jo xx

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Yes thank you shaws . I'm miffed that 23anMe have stopped reporting on the 'important' numbers but with hindsight not surprised - wonder if they will start charging separately for it at some point?? The cynic in me! More £ to get the regenerus one done now!

There is a lot of interesting information and maybe pointers in the 23 and Me reports but the fact that they report only so much, questions some of the validity depending on what is required from the report. They do say the reports are not diagnostics of illness or conditions. It is just so annoying that I, and no doubt others, may not realise that they no longer report on DIO2 rs225014. And what they do report on is very limited. Which makes me think it is actually worth having the test done elsewhere.

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It is necessary to have the right test I should think, otherwise we are wasting time and money in trying to get diagnosed and prescribed..

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Certainly, the underlying problem is the very poor diagnosis protocol. The more we can find out for ourselves and present to our Dr hopefully the more they will see we are not just malignant time wasters.

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Why aren't doctors and endocrinologists knowledgeable? Who trains them?

They know no clinical symptoms at all. Seem to only take account of the TSH and T4 and don't listen to patients. They adjust doses willy/nilly to keep TSH within a range. They don't take account of vitamins/minerals to make sure they are optimum - not just anywhere in the range, especially if low. Patients aren't offered an alternative is not progressing or even feeling worse.

We don't expect the professionals to have the actual problem themselves but if people who have been diagnosed with other conditions/disease I don't think they look for information on how to improve their clinical symptoms or have to source their own medications. They would look on the internet to get more knowledge about their conditions whereas it seems to me that most on this forum are looking for help as they are not improving through doctors or endocrinologists.

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shaws Very true, the training is so 'p' poor! Clinical observations no longer exist. I went to GP, first time in I don't know how long, problem with my leg that won't clear. First thing she does is apologise for having a virus!! (what thought for already compromised patients?) She did not touch me to assess the problem with my leg. That said she was actually more 'attentive' verbally than many. But bring back training in clinical observations, how much time would it save, how better symptoms could be assessed and how much quicker would better diagnosis be made? At least she did refer me to rheumatology...wonder how long that will take... Not holding breath.

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You have the same views as Dr Gordon Skinner (virologist) who despaired at the way we are now diagnosed and treated/untreated.

He arranged a conference and invited every Endocrinologist and one by one they all refused as they didn't want to discuss the 'parlous' situation many people were in because they either remained undiagnosed or diagnosed with anything but a dysfunctional thyroid gland or on too low a dose. (Dr S died through a heart attack and is sorely missed by his patients and particularly his staff as he was dearly loved and they said every day was a laugh and happy). There's few doctors who would have 10,000 testimonials sent by grateful patients to the GMC when he had to appear before them due to complaints made about him - complaints were not from patients whose 'lives he saved'.

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Yes, I recall Dr Skinner, I followed what was happening to him and Dr Peatfield along the way, and then Dr Myhill. I was at the stage where I had been struggling for 20 years plus at that stage, and not very well at all. I was looking for any information to educate myself as GP's just kept fobbing me off. I remember reading that Dr Skinner had passed away, it was very sudden and very sad. I do believe I've read about him trying to get the Endo's together and them all refusing, perhaps an earlier post of yours?

Why? Why are they so blinkered. What is it they are so afraid of? Their own failings? Or are they being herded by a bigger, richer power? £££

Through the good Dr's mentioned earlier, I found out about T3, and asked the GP to issue me something other than T4, to be told there was nothing. I told him there was, T3, he couldn't issue it. So I asked to see someone who could. This was 2006/7) Originally saw an Endo with goitres and other symptoms, etc in 1981, aged about 19. Remember reading Dr P's book, and reading case studies and thinking 'Oh my God...this is my story!' For the first time I didn't feel like I was alone in this.

Over the years I have bought 3 of Dr P's books, loaned them out and not seen them again...the fourth is on my kindle in the hope I will keep it longer!

I did eventually get to an Endo who issued a small amount of T3. After checking cortisol, as GP and said that was 'normal' Endo said 'borderline low'. Dr P, three years later was astounded that an Endo admitted 'borderline low'. Mind you Endo did the SST at that stage and said fine, saw the result again recently and with the hindsight of better understanding, realised it was outside their normal range by c20%. Spent three years with Endo until he started treating the blood test again, and dropped him. At that point I booked to see Dr P. Wish I'd done it years before! It never occurred to me at the time that I could just go see him...I was so naive health wise!

It annoys me no end that people are now being pushed back to the Endo's. Endo's who have less idea as to what is going on than we do, in most cases. And the only reason for people being pushed back is so the Endo can be the one to say sorry you don't need your t3 all of a sudden. Despite another Endo saying you needed it 'n' number of years ago!

Sorry this has turned into a bit of a rant again. And I'm one of the ones still getting my T3. For now...for how long?

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I am sorry the people to whom you loaned your books didn't return them.

I believe that Dr P himself is quite ill and with cancer so has been having treatment.

Diana Holme's whom he diagnosed immediately after her years of misdiagnosed then went to work with Dr Skinner for some time.

Dr Skinner's staff have been working hard to collate all of the Research they did - if you haven't seen the following post -

healthunlocked.com/thyroidu...

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I had heard that Dr P was ill in hospital, but home again now. I did not realise it was cancer. The poor man. He is my hero.

I wonder if it was Diane that was with him when I saw last year with my son. Dr P has been my life saver. I owe him more than I can say. Seeing him was the first time in 30 years and more, of struggling was the first time I felt someone heard me, and understood.

My son said he felt better just for seeing him last year, (the adrenal boost of the visit - my son's problems seem to be adrenal based but conventional Dr's will not acknowledge. I know that feeling. He had the same affect on me in 2010. And for the first time in nearly 30 yrs I felt my husband who came with me, actually realised that I had problems and was not just 'malignant'.

He gave me hope and helped me take control.

Thank you for the link.

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Meant to say, I'm not too bothered about the books, if it helps just one person to find better treatment for themselves, then a book is a small price to pay. I know that Dr P's book helped me understand that I had a condition that was not being correctly treated.

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