Anybody know about the test DIO2

[rosiebones]

Regenerus we're offering this test at the wonderful TUK conference. It is the Deiodinase 2 gene test, I cannot find any info about it on their website?

Thanks Rosie

[Jazzw]

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

[rosiebones in reply to Jazzw]

Thank you I'vehad a look, clear info. Rosie

[acc1]

People with a defective copy of this gene were shown, in a small study, to feel better on T3/T4 combination treatment than on T4 alone, even though there was no change in their blood results. People with the normal variant did not show a preference in treatment.

press.endocrine.org/doi/pdf...

You can get a standalone test for this, but I found it was also covered by a 23andme genetic test that I'd previously had done - I looked up this SNP in my raw data and found that I have two defective copies.

Based on this I was able to convince a GP to refer me to an endocrinologist, and eventually got a trial of T3.

[rosiebones in reply to acc1]

Many thanks for this, clear and concise info. Yum! Rosie

[Treepie in reply to acc1]

Just come across a reference to 23 and Me on a BBC news item referred to on the Lost Cousins newsletter.Seems the FDA has banned it in US so they are selling here and Canada. Rather controversial and funded by Google ,separated wife of Google founder runs the company.

[helvella Administrator Thyroid UK in reply to Treepie]

The FDA has not banned the company or the test, but the health-related interpretation side of things.

23andMe is a privately held personal genomics and biotechnology company based in Mountain View, California. The company is named for the 23 pairs of chromosomes in a normal human cell.[1] Its saliva-based direct-to-consumer (DTC) personal genome test was named Invention of the Year by Time magazine in 2008.[2] In 2013 the US Food and Drug Administration (FDA) ordered 23andMe to discontinue marketing its personal genome service as the company had not obtained the legally required regulatory approval resulting in concerns about the potential consequences of customers receiving inaccurate health results.[3] The company still sells a personal genome test without health-related results in the United States.[4] 23andMe has been selling a product with both ancestry and health-related components in Canada since October 2014,[5][6][7] and in the United Kingdom since December 2014.[8]

en.wikipedia.org/wiki/23andMe

A quite good article from the Guardian which mentions, among other things, discussion with MHRA - some interesting comments/discussion:

theguardian.com/technology/...

Please consider that the USA has some real oddities in its systems. In some states you cannot order any medical tests other than through a doctor. I tend to the view that we can all measure our height, weight, temperature, blood pressure, and numerous other health measurements. So why should other factors be prohibited simply because the technology happens to be based on blood or saliva samples? It seems feasible that something like an app on a mobile phone could analyse a photograph and make rough assessment of, perhaps, how yellow we are and therefore highlight possible liver issues.

The whole subject of genetic testing is, however, complex with all sorts of ramifications.

[acc1 in reply to Treepie]

The actual raw data is shown to be very accurate, with an error rate of <0.01% for an individual SNP. That's really very good if you're looking up a single variant that you're interested in, like the DIO2 one here. If you're scanning huge numbers of SNPs for ones that cause disease, chances increase that there's an error somewhere in one of your reports.

I've seen concerns that people may have unnecessary treatment based on an incorrect result in e.g. the BRCA gene. But surely no surgeon is going to perform a double mastectomy based on a 23andme report?! A person will go to their GP, have a repeat test, and take it from there. Plenty of other medical tests have a higher error rate than this.

The other concern seems to be that some people just don't understand probability! I've seen people saying that it's clearly rubbish because it says they have a lower risk of coeliac disease than average, and they have been diagnosed coeliac! Other people may worry unduly if they're shown to have a slightly higher than average chance of a particular condition.

You can choose not to unlock the results for breast cancer, Parkinson's and Alzheimer's, as some of the mutations screened for make it very likely you'll develop these diseases. Other than this, you're not likely to see anything particularly worrying.

I think as long as people understand what this actually is, that in most cases the health reports are just a set of probabilities based on our current understanding, and are subject to change as new correlations are found, then this type of screening is a good thing. It's in its infancy, not everyone wants to know this sort of thing, most of it isn't particularly useful,or life changing, but I did personally find it interesting.

And as Helvella says, the American system is a bit odd! Why should I be denied access to potentially useful information about my health just because some people don't understand statistics and others decide I might find the results worrying?

[strarburst in reply to acc1]

Only just seen your mail while searching for dio2 test. I also have done 23andme but my practitioner says it does not include this info. Can you please advise how you accessed the dio2 info. Many thanks

[acc1 in reply to strarburst]

On the 23andme site, within settings, there's an option to browse the raw data. You need to search for a SNP with the ID rs225014.

The CC variant is the rarer one that means you might do better with a T4/T3 combination, according to this paper:

ncbi.nlm.nih.gov/pubmed/191...

[Venus77 in reply to acc1]

Hi

Next to the rs225014 (that you mentioned, above) my 23andme page says:

Variants C or T and

Your Genotype T/T

What does this mean? Any info massively appreciated!

[acc1 in reply to Venus77]

T/T means you have the normal variant of the gene, rather than the one that can lead to poor conversion of T4 to T3.

[Venus77 in reply to acc1]

Thanks loads for explaining!

I see that there are a total of 13 DIO2 genes listed on the relevant 23andme page. Are the others significant for T4 to T3 conversion?

[Heloise]

nahypothyroidism.org/deiodi...

Defines all three Deiodinases.

[rosiebones in reply to Heloise]

Many thanks for this link, I will read it tomorrow when my brain is clearer and I can take in this more detailed article. Rosie

[MacG]

Hi rosiebones,

I see that someone has already given you the link from the Thyroid UK website. I did the test back over the summer and it was all pretty straightforward.

I just want to share with what having that test done has meant for me.

It has been life changing! Although I had seen some improvement on levo. I was still far from 100%. The DI02 results showed that I had inherited the faulty gene from both parents and when I took that information along to my GP along with a couple of photocopied articles about it she was brilliant and agreed to a combo of T4 and T3. After a bit of a bumpy couple of weeks when I was settling down with the T3 (and thanks to the advice/support I received in this site at that time) things have really improved. It is about six week since I settled on a dose that seems to suit me and I cannot believe how I am getting my life back in so many ways. I have just worked a full week - that's the first time in ten years.....and I still have energy to write about it! The brain fog - a horrible dull-headed, jittery, thinking is too much trouble today feeling - is much alleviated. I don't feel so overwhelmed by what life is throwing at me because I feel more physically robust, which is making me more emotionally resilient. And so....debilitating symptoms of anxiety that I had developed during the ten years that I remained undiagnosed and during my first two years of treatment on levo. have improved immeasurably in the last six weeks (I am better than I have been for years.) I have also noticed in the last few days some stumpy little hairs growing back at the front of my head where my hair had thinned horribly (Hurrah for stumpy hairs!!) I could continue........but you get the picture....

We just the need the larger endocrinology community to wise up to this test now (why is it not offered on the NHS?) and also to the need for FT3 testing and T3 medication. Experiencing what I am experiencing at the moment, I just cannot comprehend how the NHS for the most part continues to operate in the dark ages in the treatment of thyroid problems. It is mainstream knowledge that the deiodinase enzymes are responsible for converting T4 to T3 in many sites around the body. No endocrinologist could refute that. If this process is impaired by genetic problems that are quantifiable, I don't see what their problem is.

I wish you well in your search for answers.

[helvella Administrator Thyroid UK in reply to MacG]

What a very interesting and helpful post.

I suggest that on top of ignorance, cost is a major factor in refusing testing. There is no way that the system can say "If we do a test now, we can save a fortune on future care." The huge rise in cost of T3 doesn't exactly help either. But that does NOT justify - merely suggests explanation.

[weescone in reply to MacG]

I'm a wee bit confused, I thought if we'd inherited the gene, then we just can't convert T4 at all? And that we can't take it....? 🤔

[LouiseRoberts in reply to weescone]

lynmynott

[lynmynott Partner Thyroid UK in reply to weescone]

Hi Weescone, It seems that, depending on whether you inherit both genes or not, conversion to T3 is reduced. The research didn't say you can't convert at all but that the test results showed up as normal and that the patients felt better on T3.

[weescone in reply to lynmynott]

Gotcha, thanks Lyn 👍🏻

[Ari3 in reply to MacG]

Are u only on t3 ?

[rosiebones]

So very heartening to read your post and yes I agree. I am very lucky in having a GP who listens and reads, I offered her a print out of an article suggested by an advisor on HealthUnlocked and she took it saying I am not the only patient she has in my situation. I guess we just have to keep at it and thank goodness for this site!

May your improvement continue .

With thanks Rosie

[rosiebones]

Further to my post, I emailed Regenerus direct and have very helpful and detailed replies. Very reassuring and just thought I'd let you know. Along with all the helpful replies I've had and reading the info on links you've sent me I now feel I have a much clearer understanding of what is involved. Thank you very much Rosie

[Mark_scotland]

Hi, just registered on here and there's lots of great info! I've had low energy issues for a couple of years, and trying to get to the bottom of it. My GP has classed it as M.E. in the meantime, but even he acknowledges this is just a 'holding position' as they don't really know what's going on...

But I've discovered from genetic testing (from 23andme) that I have a double-mutation in the DIO2 gene, as well as family history of thyroid issues. Saw a second endocrinologist today but it turns out he's a bit old-school and doesn't really know anything about the genetic link. He's not prepared to experiment with T3 because TSH and free T4 are within range (same old story that everyone seems to hear!)

...so, has anyone met any endocrinologists who have read the paper (see here: healthunlocked.com/thyroidu... or are aware of DIO2 gene issues, and are prepared to treat on that basis?

Cheers,

Mark

[Venus77 in reply to Mark_scotland]

Hi

I'm in a slightly similar position to you. The NHS originally labelled me as having ME, and then changed the label to fibromyalgia, but I'm actually hypothyroid.

I hope you've secured a proper diagnosis and treatment by now?

I've had the 23andme test done but don't understand the raw data. When on the page about DIO2, what should I be looking for? Any guidance greatly appreciated!

[humanbean in reply to Venus77]

Do a search on Google or other search engine for "What to do with 23andme data".

I've never had my DNA analysed but I have read that people upload their data to various websites and see what comes out of the analysis.

Just as an example, take a look at this link :

xcode.in/23andme-raw-data/2...

[humanbean in reply to Venus77]

Ooh, found another link that might be useful :

darwinsdisciple.com/2016/09...

[Venus77 in reply to humanbean]

Thanks humanbean!

I had my 23andme raw data processed by NutraHacker but their report does not mention the DIO2

[humanbean in reply to Venus77]

Sadly, I can't add to what I've already said, other than to suggest that you google "23andme DIO2" and see if you can find what you need that way.