23andMe

[UrsaP]

Following my post a few months ago where I was alerting members to the fact that 23andMe had stopped genotyping/reporting one the DIO2 gene SNP rs225014. This is the main SNP that is thought to determine our ability to convert from T4 to T3.

At the time I tried to find out why and was given the runaround, with no valid reason given. 'A panel of experts' apparently, who made the decision based on the community 'demographic'. I responded that as thyroid issues were on the increase worldwide and they were a worldwide company that surely the demographic called for such an important gene to remain in the genotyping. When asked for the specific reasons they would not tell me and refused to continue the conversation. i.e.refused to supply a credible answer.

This week may have provided the answer, in that GSK have invested in 23andMe. So is this the reason? Have GSK pulled the plug on this reporting, as part of the deal? If so why? They are going to be influencing funding for research, influencing it away from thyroid functions, and no doubt all connected endocrine disorders.

So why? Anyone got any good ideas?

My own personal thoughts are leading me to the idea that, as, I believe, there is some documentation that highlights that all patients [or most] in intensive care, have low t3 levels. We know T3 is needed by every cell. We know how important it is, we know that low T3 can lead to heart problems, diabetes and mental health. If it affects everything in our bodies, then surely if deficient it can adversely affect our bodies in any number of ways. What if the big pharma know T3 is underlying to many other conditions and diseases, and are deliberately influencing research away from finding this outs there is no profit in well people?

[Marz]

Always good to look at the bigger picture - especially when BP are anywhere around Thank you for posting - your points make sense to me !

[UrsaP in reply to Marz]

Would like to think it a mad off the wall theory but from what I've seen and heard this last couple of years??

[nightingale-56]

A good post UrsaP . I strongly feel that T3 if not where it should be can cause a lot of other things that BP would not want us to know about. Unfortunately, for them, we are getting pretty wise to what is going on now, as there are so many wise and helpful people on this site. Most of whom know more than the poor quality Doctors we have at the moment. I know there are some good ones, but they are not in our town.

[UrsaP in reply to nightingale-56]

Thanks nightingale-56 Agree with you wholeheartedly but they are going to keep trying to block us. There was an article in Pulse that was written as a 'refresher' for Drs on how to handle patients who are still symptomatic when biochemistry looks in range. Very condescending article which talks about the patient coming in, with a sheaf of literature, patients who belongs to support groups and are adamant that they know more than the Dr. Basically saying how foolish patients are that don't take advice of Endo's etc. Belittling the knowledgeable patient in the not most subtle ways.

I personally have had a Dr tell me she did not know what T3 was. Another time she told me there was no point getting the T3 level as she couldn't read it. I told her get it I;ll read it. She did. She also wrote in my notes that I felt better since starting T4...when I had stopped T4 several years earlier, and been on T3 for about 3 years.

I also attended an Endo appointment last year with a friend where the Endo did not know what NDT was or what rT3 was.

So why would we think we know more than most Drs??

The do tell the Dr to look for other causes - one of first mentioned is 'Adrenal failure' Who gets their adrenals properly checked by GP? And we all know they don't recognise anything in between Cushing's and Addisons.

[nightingale-56 in reply to UrsaP]

I wonder why we don't take the advice of Endos! Could be because they don't learn from the right places in the first place and then do not keep up with current knowledge, but only read from am 'crib' sheet given to them.

Been having awful 'discussions' with Gp lately who keeps changing my son's medication. He upped his dose of T4 to 100 mcg from 75 mcg in June and then when his T2 diabetes went through the roof, he has now lowered it to 50 mcg. My son's T4 has always been 75 mcg and never varies by much. This GP has also given him Alendronic Acid for osteopenia, even though there are contraindications for this. I have emailed the Endo's Secretary who has put him in for an appointment next Thursday, so hope we can get his meds on a more stable footing.

All this is not being helped by the Care Manager at my son's supported living trying to cut me out of his health appointments. Luckily my son did have his adrenals checked at GOSH in the beginning, but mine certainly weren't until about three years ago. Of course, they complied with NHS measurements. Heaven help us.

[UrsaP in reply to nightingale-56]

Did you see Diogenes post today?

gmc-uk.org/ethical-guidance...

An excerpt:

From Good Medical Practice Consent: patients and doctors making decisions together

The doctor uses specialist knowledge and experience and clinical

judgement, and the patient’s views and understanding of their

condition, to identify which investigations or treatments are likely

to result in overall benefit for the patient. The doctor explains the

options to the patient, setting out the potential benefits, risks,

burdens and side effects of each option, including the option to

have no treatment. The doctor may recommend a particular optionwhich they believe to be best for the patient, but they must not putpressure on the patient to accept their advice.

The patient weighs up the potential benefits, risks and burdens

of the various options as well as any non-clinical issues that are

relevant to them. The patient decides whether to accept any of the

options and, if so, which one. They also have the right to accept

or refuse an option for a reason that may seem irrational to the

doctor, or for no reason at all.

If the patient asks for a treatment that the doctor considers would

not be of overall benefit to them, the doctor should discuss the

issues with the patient and explore the reasons for their request. If, after discussion, the doctor still considers that the treatment would not be of overall benefit to the patient, they do not have to provide the treatment. But they should explain their reasons to the patient, and explain any other options that are available, including the option to seek a second opinion.

It seems that there are far too few instances recorded here of patients having that kind of (mandatory according to guidelines) interaction with the GP. I think that all patients having an appointment with their GP/endo should carry this excerpt with them, if things go awry.

[nightingale-56 in reply to UrsaP]

I did see diogenes post yesterday and have printed a copy off to take with me to future appointments. We really need all these little snippets in a booklet that we can carry around with us. Maybe something for TUK or ITT to consider?

[UrsaP in reply to nightingale-56]

Agree, we have had conversations about doing something along these lines.

[AmandaK]

It wasn't long ago when the news hit the headlines that doctors were being urged to work in collaboration with patients in their health care and that patients were encouraged to take responsibility for their health, even to use the Internet! Can't lay my hands on this at the moment but I remember thinking "'Eureka' sense is beginning to prevail".

However, I should imagine the docs going ballistic at this news...

[nightingale-56 in reply to AmandaK]

AmandaK if you find this I would be very interested in this. I am sure others would be too. It seems to be one step forward and two back as far as NHS are concerned. All in the cause of saving money.

[UrsaP in reply to AmandaK]

I saw something too. Might it have been on the NHS web pages, which seems to have changed several times over the last few years. Certainly moved from patient having rights to right medication for them.

[Cominghome]

Not sure whether it's an update to their software (chip 5 I think), or something else but rs225014 was included in my raw data. And, as I expected, I'm C/C so it's no wonder I still feel bloody awful..

I'd actually already ordered the regenerus test as I hadn't even considered 23andme might include this (I was ordering it as a cheaper way of testing for celiac disease).

[UrsaP in reply to Cominghome]

Cominghome What chip was your DNA done on? Mine was chip 5 about a year ago and they had stopped reporting but were reporting on earlier chips. Ancestry seem to include the rs225014 snp. Just have to search by snp on their raw data.

[Cominghome in reply to UrsaP]

Chip 5, and my test results were processed late December. If you haven't done it already I'd highly recommend downloading your data and running it through the promethease website's reporting system. It's fairly cheap ($12) and gives a lot of options for searching by gene name, snp number or medical issue. I've found it a lot easier than looking through snps!

[UrsaP in reply to Cominghome]

Was that late Dec 2017 or 2018? I got my kit for Christmas '17, so sent off Jan 18. Back about Mar/April 18. No 225014 result. Think there were a few of us at the time so have they altered the chip again and if s why not renumbered? All odd

[Cominghome in reply to UrsaP]

Sorry that could have been clearer couldn’t it! It was sometime in December 2018 I posted them off. Got the results back in late January 2019.

[UrsaP in reply to Cominghome]

No worries, thanks for clarifying. I just wanted to make sure that I had understood correctly. Are you based in the UK? It is interesting that if your DNA is genotyped on chip v 5 and they have genotyped this particular snp, when mine is chip 5 too and they haven't genotyped this snp? Why I wonder? Have they reintroduced it? If so when and surely the chip changed?

[Cominghome in reply to Cominghome]

You know what, I've gone back and checked again and I think I'm going mad... rs225014 isn't in there after all.. Promethease was reporting more widely on DIO2 and including commentary on rs225014 under another snp within DIO2. Which was what made me think it had tracked it down and reported on it in the first place. Pfft. Guess it's a good job I did pay for regenerus testing after all!

Sorry for causing any confusion, between brain fog and insomnia I've got pretty good at it unfortunately.

[UrsaP in reply to Cominghome]

No worries, I do know that Ancestry included the SNP - but only found that out after paying for Regenerus myself. Hey ho.

[UrsaP]

Cominghome How very very odd as I'm certain mine was on chip 5 and I think mine came through c March/April 2018. And that snp was definitely not reported on back then. As per my original post, and fairly certain they said they would not be reporting on it in future either. Very interesting. Wonder if others have got it genotyped? Does that mean there is no 'standard' set of genetics genotyped that they might be different for each of us? I know they are only reporting on certain % but thought it would be the same %.

Thank you, I did upload to Promethease and Livelwello too, like Promethease but tend to favour Livewello. Did Ancestry DNA too, so can compare both reports on there. I might go back and check my raw data see if it was updated along the way?

Not really expecting it to be.

[Cominghome in reply to UrsaP]

I’ll have to have a look at livewello. Still haven’t finished wading through everything on promethease yet though..

Not sure what their rationale is for selecting individual snps (apart from the ones they use for their main reporting obviously). Fingers crossed your data has been updated though!

[UrsaP in reply to Cominghome]

Do you mean 23/Ancestry's rational? Who knows? They told me when I enquired last year, that they would not be reporting on the 225014 snp in future. They were very evasive as to why.

One thing they won't do is give you enough of any snps to outright diagnoses anything. Ethics I suppose. One of the annoying aspects is that they don't deem us able to cope with knowing anything. It all has to be 'controlled'.

I have to say I prefer Livewello now, find it easier to access information - PubMed - and such through them. Though I have found the odd anomaly, a snp s will be double red but when I click on it the explanation show it as green. Doesn't happen often, but always worth checking things on different sites. Best of luck.

[Onthefarshore]

Great observation on your part. I did not know that, but follow the money. People unhappy with THE number one selling medication may have already tried to use that genotype result as justification for their insurance to cover switching to a different thyroid medication that includes both T4 and T3, and with good reason. Synthroid is still the number one selling medication in the US (and likely elsewhere) and contains T4 only. Many people are already unhappy with their T4 only medication and switching to Armour or another similar medication. With proof of their need for a combination T4/T3 medication and the genetic data to back up their claim, they will be difficult to refuse medically, and will be further cutting into profits of that number one drug manufacturer. It appears they intend to nip that in the bud would be my guess. That industry needs to be heavily regulated or this will continue.

[UrsaP in reply to Onthefarshore]

Yes many of us in UK getting DNA if we can, to show conversion issues. But too many drs still ignore. It's not just the DIO genes either but other issues MTHFR, VDR and such, can all impact.

[UrsaP]

My DIO2 rs225014, certainly not genotyped/updated and def chip version 5.