I had thyroid genetics test done a few months ago by Blue Horizon, I think thy actually covered more than the Regenerus Lab and also don't charge for, or provide counselling, however my questions were answered in detail by their expert who was really helpful. Genetically I lack "optimal" conversion for T4 - T3 at both DIO1 & DIO2, but don't have the gene which can cause serious psychological issues due to faulty conversion. However my T4:T3 ratios can be unbalanced, and my TSH signalling is faulty (flagged red) explained as;
"You may be susceptible to reduced thyroid sensitivity to TSH stimulation which could result in a need for and production of higher TSH levels in order to produce normal levels of thyroid hormones (T4 and T3)"
After a quick Google I also discovered that my TSH will be at a (slightly) higher than than other genotypes. I found a few articles, mostly looking at subclinical Hypothyroidism in pregnancy;
QUOTE <"A number of genes have recently been identified that are associated with altered thyroid function in the normal population (7–9). The single nucleotide polymorphism (SNP) rs4704397 in the phosphodiesterase 8B (PDE8B) gene shows an association with circulating TSH levels, explaining 2.3% of the variance in TSH in the general population (7). Each copy of the minor A allele was found to be associated with an increase in TSH concentration of 0.13 mIU/liter, an effect size equating to around a 0.42 SD difference between the AA and GG genotypes.
This genetic variation in TSH concentrations, within the normal population, is likely to result in altered “normal ranges” for the three different genotypes. We aimed to assess whether this difference would affect the number of individuals classified as having subclinical hypothyroidism, who would, therefore, potentially be treated with T4 in pregnancy based on the current guidelines." >
Interestingly, it recommended routine thyroid checks for all pregnant women!
What this means my normal TSH should be I don't know!! My thyroid wasn't likely to be responding adequately to TSH stimulation before, and now for years my bodies making matters worse with attacks from both TPO and TG antibodies (and yes I have gone gluten free and the TPO (only) seems to be reducing, slowly )
Everbody is different. These minor genetic variances have little relevance. In your case you have slightly less deiodinase capability so your TSH is slightly higher to compensate. This means that when diagnosing primary hypothyroidism, or monitoring pregnancy they should set a slightly higher threshold for you before recommending levothyroxine treatment. Your thyroid will have been responding adequately to TSH stimulation, these are DIO1 and DIO2 polymorphisms and have nothing to do with thyroidal secretion.
The text you quoted 'associated with an increase in TSH concentration of 0.13 mIU/liter' shows how trivial this is, you may have a TSH of 2.13 instead of 2.00. I wouldn't waste money on these tests, they have insignificant clinical relevance and are just a means of fleecing patients. Going gluten free does not alter antibody levels, antibodies decline in time whether or not one eats gluten.
I posted this as information which may be of interest to others, I am still learning about thyroid health and genetics and so I don't dictate to others but have provided quotes from Oxford medical research papers, and a link to the article, plus information from the Blue Medical's lead geneticist, which may be of interest to members on this forum. These were not simply my opinions! I have raised three children to adulthood so the pregnancy information is hardly applicable to me, but may be useful to younger members, which is why i added it.
Thanks to my tests and research, I am now aware of the relevance of my "deiodinase capability" - thanks, I actually wasn't seeking an opinion on this -however neither was I asking to be "slated" for "wasting money on these tests" I find many of your comments both ignorant in attitude, and also ill informed.
I did not say anywhere in my message that DIO1 and DIO2 polymorphisms had anything to do with thyroidal secretion, so I did not need your correction on this! My tests included several more thyroid related gene tests not just the DIO1&2. The PDE8B gene can affect TSH signalling as explained in the article quoted, and which I hadn't seen mentioned on the forum, hence another reason to post and make others aware, to ignore or research as they may choose.
Yes the increase in TSH the report quoted is small, but not "insignificant" , as the "normal" TSH range is also small. However I have to correct the mathematics you've stated, as it's not just 0.13 difference, had you read the article carefully your figures may have been more accurate. They found a 0.13 increase for EACH A allele so if homozygous AA it's doubled; quote < "an effect size equating to around a 0.42 SD difference between the AA and GG genotypes.">
jimh111 Could you let the forum know your medical qualifications which give you the knowledge to dictate thyroid & genetic information, and inform people that their thyroid is responding adequately ? I assume from your sweeping statements, in total contradiction of the medical quotes I gave that you think you know more than the experts I quoted.
You arrogantly wrote "Your thyroid will have been responding adequately to TSH stimulation", you certainly do not have the knowledge to make that statement about MY health! You have a right to your opinion, but it should be expressed as such, not put out as unsubstantiated medical statements. I posted my results so others are aware that there are more than DIO1&2 genes which "could" affect their thyroid health and which BH report on.
I asked Blue Horizon for further information on my gene tests and discussed the implications at length with their lead geneticist who stated " This result indicates a predisposition to reduced thyroid response to TSH stimulation" . I fully understand that genetic tests whilst educational, in many cases they show polymorphisms which only indicate a predisposition towards certain functions, and that gene expression can also be "switched on or off" - ie poor lifestyle choices, and/or life events can "trigger" some genes which result in negative health impacts, prolonged stress being a prime example and likely cause of many cases of hypothyroidism. Again the stress/gut/hypothyroid link is proven and well known and your sweeping statement "Going gluten free does not alter antibody levels" is your opinion but has been stated as a fact. I am not interested in getting into a discussion about this as I have enough medical evidence and my own blood tests as proof.
Your comment "I wouldn't waste money on these tests, they have insignificant clinical relevance and are just a means of fleecing patients" is insulting as well as factually incorrect. My tests were worth every penny and, having done further research and discussion with the geneticist, they've proved highly educational and eye opening. The BH test reported on my COMT SNP val/met polymorphism, and this does have a very real "clinical" effect on an individual's metabolism and detoxification of stress hormones, and neurotransmitters, slowing this function considerably, leading to higher levels of dopamine etc in the brain. This can have a major influence on how the brain reacts to stress, as well as an individuals ability to assimilate and remember information.
What everyone needs to keep in mind is that genes are not your destiny but are your tendency. You are correct "we are all different" That's what makes life interesting.
You ‘wouldn’t waste money on these tests’ Jimh111? Don’t be ridiculous! They’re not a waste of money. I felt poisoned and very ill on Levo. Finding out I had a DIO2 conversion problem was instrumental in my being prescribed Liothyronine, which has given me my life back. You are right when you say ‘Everyone is different.’ So how can you then go on to say the tests are of ‘very little relevance?’ On what evidence do you base this sweeping generalisation?
Gene testing is a fantastic medical advancement that I'm sure will change medical care and improve welfare in the future. There's a multitude of minor polymorphisms that as I said can be "switched of or on" and therefore may or may not affect you, but many more that definitely do!!
I was also flagging the pregnancy information as I'm aware that undiagnosed thyroid disease can be a contributing factor in post-natal depression, which luckily I never had, but the fact that the report I linked concluded thyroid tests should probably be included as routine in pregnancy is relevant
I would agree, my heterozygous DIO2 gene test result was also significant in helping keep my NHS prescription for Liothyronine, after initial three month trial. My endocrinologist was well aware of its implications.
So genetic testing was very far from being a waste of money.
At least one CCG in Kent is running DIO2 gene test on the NHS and if result shows patients have this, they are also prescribing Liothyronine.
I've just watched a recorded event of a Thyroid groups meeting with the local Endo' and he encouraged going gluten free for a year, and although he couldn't say it would help everyone he mentioned frequently that having an autoimmune disease like Hashimotos often meant other autoimmune diseases would be present and in particular coeliac. we know from tests that this is true for a high percentage of Hypothyroidism sufferers, but also health benefits felt even when not found to be actually coeliac. jimh111 obviously hasn't read around the subject; I'd recommend Dr. Izabella Wentz Hashimotos Protocol , she is qualified!!
Hazel, you have misunderstood my comments. There was no intention to 'shoot the messenger', rather my comments are aimed at the companies who market these tests in the knowledge that they have little or no relevance to the care of hypothyroid patients. You and I can easily afford these tests, but many patients are not well off and may be struggling to exist, having lost their jobs and in some cases their home as well.
Your comment where you say you don’t have ‘the gene which can cause serious psychological issues due to faulty conversion’ is completely wrong. The DIO2 rs225014 polymorphism academic.oup.com/jcem/artic... has very minor effects, it does not cause serious psychological issues and is not a faulty gene.
Your chastisement ‘I did not say anywhere in my message that DIO1 and DIO2 polymorphisms had anything to do with thyroidal secretion’ arises out of confusion. You mentioned the rs4704397 SNP and DIO1, DIO2 polymorphisms. The rs4704397 polymorphism relates to slightly reduced thyroid response to TSH. The thyroid has DIO1, DIO2 activity. You wrote ‘My thyroid wasn't likely to be responding adequately to TSH stimulation’. I assumed (wrongly) that you were referring to the effects of DIO1, DIO2 polymorphisms on thyroidal secretion, because the thyroid does to some extent rely upon these deiodinases for secretion and conversion of T4 to T3. Your thyroid (when healthy) responds adequately to TSH, the rs4704397 polymorphism has a small effect, the thyroid just needs a little more TSH.
Although the rs4704397 SNP influences TSH levels it is minor and there are many other factors that determine our individual set points academic.oup.com/jcem/artic... , these have a greater influence than this SNP. You yourself wrote ‘my TSH will be at a (slightly) higher…’ which I agree with.
The paper you cited reported that another study found ‘Each copy of the minor A allele was found to be associated with an increase in TSH concentration of 0.13 mIU/liter’. It’s reasonable for me to quote a change of 0.13 as the most common occurrences may be the heterozygous (AG or GA), the AA will have a TSH 0.13 higher and the GG 0.13 lower. AA will be 0.26 higher than GG which in any event is still a very small change.
If I may digress for a moment the paper you referenced suggests a higher TSH should be accepted in pregnancy, based on pregnancy specific TSH reference intervals. (The very first sentence ‘Maternal subclinical hypothyroidism …’ wrongly refers to a study that investigates clinical hypothyroidism). The paper argues that elevated TSH is associated with impaired outcome. Another paper thyroidresearchjournal.biom... makes a similar statement. However, they both overlook research that shows that a TSH above 2.5 is associated with increased chance of miscarriage. This is a TSH above 2.5, not one above the upper limit of the reference interval. It is just possible that elevated TSH rather than low thyroid hormone has this effect. If I were pregnant I would not risk my TSH going above 2.5 during the first two trimesters. This is just a point for any woman who might get the impression that these studies show a higher TSH is definitely OK.
I don’t know of any good evidence that going gluten free lowers antibody levels in most patients. I have seen a study that showed there might be benefit for patients who have antibodies to gluten, about 8% of the population. Antibodies drop in time. If I remember correctly lowering TSH reduces antibodies and they also fall after the thyroid is removed or dies. Autoimmune diseases do tend to cluster and if you have autoimmune hypothyroidism you are more likely to be coeliac. Obviously if you have gastrointestinal symptoms consistent with coeliac you should be investigated. I believe ‘tests’ for coeliac are not much use, coeliac has to be confirmed by endoscopy, as SlowDragon pointed out.
Although the DIO2 polymorphism has a small effect, getting a ‘positive’ result from the genetic test often allows doctors to rationalise prescribing liothyronine and so is worth the money for those who are lucky enough to have the polymorphism. Unfortunately it doesn’t help those who do not have the polymorphism but have an equal need liothyronine.
My comments are directed at these companies that offer these tests without adequate back up and support. They should offer full detailed explanations of the results with face to face counselling. Patients may be misled into believing normal minor variations are of concern and consequently descend into self-pity or even worse depression. The companies making large profits should be more ethical.
The previous comments from fortunta and slowdragon have already provided enough evidence that the DIO2 gene test is relevant to thyroid care, and has in fact changed peoples lives, the fact that it's now being made available on the NHS and used for prescribing T3 proves that your opinion " companies who market these tests in the knowledge that they have little or no relevance to the care of hypothyroid patients" is totally flawed.
You stated:
"You and I can easily afford these tests, but many patients are not well off and may be struggling to exist, having lost their jobs and in some cases their home as well."
I really couldn't believe I had read this! Even after I had pointed out you had made unsubstantiated medical statements about the functioning of my thyroid when you were not in any position to so, you now make statements about my wealth, which you have no knowledge whatsoever about. I can only think that in your mind you believe everything you assume is actually a fact, rather than an opinion. Please try to differentiate!!
jimh111 if you want members of this forum to take anything you say seriously refrain from making comments about things you know absolutely nothing about:, I've already mentioned this in my last post because you made an unsubstantiated statements about my thyroid function, now unbelievably you are commenting on my wealth.
This sentence shows you make claims about things of which you have absolutely no knowledge whatsoever;
"You and I can easily afford these tests, but many patients are not well off and may be struggling to exist, having lost their jobs and in some cases their home as well."
Firstly I am fully aware of the damaging knock on effect that ill health from thyroid disease can have on a persons life, including their jobs, because I've felt it first hand, so do not make assumptions about my finances and then make ridiculous statements.
Your comment is offensive as it implies I do not have empathy for the welfare of fellow thyroid patients, why on earth would you want to make a comment like that? No don't reply! Members on this forum are able to judge for themselves whether blood test, gene test, or anything else are of value to them, it's not up to you to tell them if they're worthwhile, again I'll refer to fortunata's comment above as proof!
You other statement is also quite offensive:
" Patients may be misled into believing normal minor variations are of concern and consequently descend into self-pity or even worse depression"
People on this forum are here because they are researching information in an effort to improve their health, so give them some credit for being able to question and rationalise what they find. Blue Horizon provide a very detailed report and when I asked for even more details, including the rsID for every SNP listed they provided it so I could do further research.
I notice that you didn't clarify details of your medical training to support your statements.
It's not the "large companies making large profits" that are misleading people here, it's forum members who quote their opinions as facts
Correct me if I’m wrong but I assume you used this Blue Horizon Genetics test bluehorizonmedicals.co.uk/t... which costs £199.15. You clearly were able to obtain this test (perhaps at a discount) which is beyond the means of many patients. Patients are ruthlessly ripped off when they need thyroid function tests. For example, my local hospital pays £2-74 for a TSH, fT3 & fT4 assay whereas Blue Horizon charges £49.15 (currently reduced from £61.60). It helps patients if we can give evidence on the usefulness of various testing options.
Persistently demanding details of my medical training demonstrates a naïve faith in current medical training, particularly in endocrinology. The medical training is the problem! Validity of a scientific assertion lies with the body of evidence and logic, not attendance at a medical school. Michael Faraday, one of the greatest scientists ever, had only basic schooling. (I’m certainly not comparing myself to Faraday).
Patients should make up their own minds about the clinical value of tests and treatments. To do so they need information from a variety of sources about the merits of various testing and treatment options. Information that they can verify and judge factually. Unfortunately. we can’t just believe statements issued by Big Pharma.
Blue Horizon may give a ‘detailed report’ but we should question its honesty. You quote Blue Horizon ‘This result indicates a predisposition to reduced thyroid response to TSH stimulation’ and you accepted this as truth. A little investigation on your part would have revealed that most of the world’s population has the AA genotype with only around 10% having the GG genotype. Thus, the Blue Horizon claim to ‘reduced thyroid response’ is misleading, the AA genotype is the typical one with AG being almost as common. In any event the rs4704397 polymorphism has a small effect on thyroidal secretion that is compensated by a slightly higher TSH, be it your thyroid or someone else’s. This minor effect of the rs4505397 SNP is only relevant if your thyroid is healthy and your TSH is not suppressed. Blue Horizon state that these tests are ‘not intended for diagnostic or treatment purposes’, in full knowledge that patients order the tests for diagnosis and treatment.
If you have the AA or AG genotypes you are average, it is the GG polymorphism that is unusual. Informing patients that they have a reduce thyroid response is misleading and causes unnecessary distress. We need to be aware of this sort of misinformation, so we can make informed decisions about the relevance of these tests. I give patients credit for being able to question evidence, unfortunately some patients are unable to do so!
As you specifically requested me to do so; I will correct you.
You said;
"Hazel, you have misunderstood my comments. There was no intention to 'shoot the messenger', rather my comments are aimed at the companies who market these tests in the knowledge that they have little or no relevance to the care of hypothyroid patients. You and I can easily afford these tests, but many patients are not well off and may be struggling to exist, having lost their jobs and in some cases their home as well."
Yet you then quote the cost of the BH thyroid gene test and continue your personal assault on me for having had one!
You are continuing to form your opinions based on scant information, and despite me pointing out in my last post that you are mistaking your "opinion" for matters of FACT, you are still following the same pointless arguments. Whether the BH genetics test is affordable to me or not in absolutely none of your business, you know nothing about me; whether I earn a six figure salary or survive on State benefits, whether I've scrapped the barrel to pay for the test, or dipped into a huge savings account, whether I even paid for it myself, or a friend, relative or partner paid for it. You have formed an opinion of my affluence with inadequate evidence, and commented on a personal matter which is not relevant to this post, nor any of your business.
Please remind yourself of your own quote"
"Validity of a scientific assertion lies with the body of evidence and logic"
In future ensure you have gathered sufficient evidence, instead of continuing to come up with critical, inaccurate statements not based on fact, but derived from your opinions.
You decided to respond to information I posted in a very negative way, (information for others to read or ignore as they choose )using words like 'trivial", adding your opinions as if they were facts, and totally disagreeing with practically everything I'd posted, you disputed medical reports and my personal experience of a gluten free diet, then refuse to explain what qualifies you to make these claims, and instead insult me further!
You said:
"Persistently demanding details of my medical training demonstrates a naïve faith in current medical training, particularly in endocrinology."
Really! Your thought patterns are very interesting to say the least!
I asked a valid question because you told me I was being misinformed by my medical reports and misled by discussions I'd had with a geneticist about my thyroid function, you made it clear you had a better understanding, quite a serious claim, so I asked:
"jimh111 Could you let the forum know your medical qualifications which give you the knowledge to dictate thyroid & genetic information, and inform people that their thyroid is responding adequately"
A very reasonable question in these circumstances, your reply was neither reasonable nor accurate but was insulting, because I always research and question information and make my own conclusions, and had made this clear as in my post as I had said;
"Blue Horizon provide a very detailed report and when I asked for even more details, including the rsID for every SNP listed they provided it so I could do further research"
Once I had all the rs IDs for each polymorphism on my report I could ensure I was looking into the correct one when I did my research, before going back and asking further questions of BH, this included the fact that as i'm taking Levo' and have a suppressed TSH the signalling issues probably wasn't of any concern to me now. I hadn't sought nor welcomed your lecture on the subject.
So for you to criticise me and say that I have "naive faith" shows that again you've ignored the details in my post to suit your opinion, and insult me because I will not "blindly" accept your statements as fact. I think everyone on this forum is aware of the poor care thyroid patients seem to receive from endocrinology departments, and as a person who's been left severely hearing impaired due to NHS negligence I can assure you I little faith in current or past medical training in this country.
I responded to your critisism by clearly saying I am not qualified but thought the information i'd seen may be of interest , in fact I said;
"I posted this as information which may be of interest to others, I am still learning about thyroid health and genetics and so I don't dictate to others but have provided quotes from Oxford medical research papers, and a link to the article, plus information from the Blue Medical's lead geneticist, which may be of interest to members on this forum."
And also as far as genetic tests are concerned I have clearly stated;
What everyone needs to keep in mind is that genes are not your destiny but are your tendency.
I will also add to the comment fortunata made and say that I too have turned my health and life around, and most credit is due to using the information on this forum and Thyroid Uk and of course the members support. I've ditched the anti-depressants dished out by my GP mistakenly prescribed to help my lack of motivation and energy which they just worsened, I've shed the stone and half weight gain they caused, and gone from barely wanting to walk around the block to completing two half marathons! I'm not yet fully well, but determined to get there. And if taking control of my own health, means "wasting money" paying for my own tests to learn about, monitor and control my illness, then jimh111 I bloody well will and you can bleat on all you like about the information being trivial, or gluten free not working, I shan't be listening to you, I'll take my hearing aids out 🤣
Oh and you've twice avoided answering my question:
""jimh111 Could you let the forum know your medical qualifications which give you the knowledge to dictate thyroid & genetic information, and inform people that their thyroid is responding adequately"
So I'll add a quote from your own post a few months ago which provides the answer
jimh111: "The results of the Regenerous tests don't make sense to me, but I find genetics very difficult"
PS I have responded purely because I have been challenged by jimh111 to "correct him" and because (his?) comments are inaccurate, inflammatory and insulting. However as I know my illness is mostly caused by, and worsened by stressful life situations I will not be entering into any further dialogue. In fact I will not be posting any more information on this forum whilst this person is still a member and making such ridiculous comments, I don't have the energy or inclination to respond and have better things to do with my life!
I have faulty TSH signalling and TRH receptors, but I have always had low TSH, so I think that you can't just go by genetics - epigenetics rule. I also have fab, fab, fab genetics for conversion, but my T3 is always low compared to free T4 unless I'm on T3. So ...
I'm sure TSH stimulates type-2 deiodinase, this would explain your case where low TSH leads to low fT3 (except when fT4 goes high and type-1 deiodinase takes over). Unfortunately, I can't find solid proof that TSH promotes D2, the research hasn't been done.
I supposed to have super-duper DIO2 and DIO1 genes, bah humbug. So really I'm about the opposite of my genetic profile (or perhaps I'm doing a fantastic job of converting given that I've got such low TSH) - Genes can't compensate for many bangs on the head ...
When you see a user name of Hidden, it means that the person is no longer a member of this forum.
We often close posts that were originated by people who have left - there is no point in wasting our time making replies. Occasionally, the thread might still be active and popular and will be left. More often, it is simply a case of none of the admins noticing!
I shall now be closing this post to replies.
The ability to reply to this post has been turned off.
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(and yes I have gone gluten free and the TPO (only) seems to be reducing, slowly 
)
Feedback loop TSH/T4/T3
Conversion problems :(
My latest test results, dont understand what is going on :(
TSH levels
