I'm seeing increasing research into the genetics of ME like the recent precision analytics paper. So a general question. Has anyone sequenced their own DNA and used it successfully to identify potential causes or problems and then relevant possible treatments that help symptoms eg diet changes, supplements, addressing deficiencies etc? If so which sequencing company did you use (I don't want my data sold eg by 23&Me) and which analysis company did you use to get actionable, comprehensible insight. I'm in the UK and top end severe. I came across Dante Labs (an Italian US company) and wondered if it's of any use but it's pricey. Tia...
Apart from genetic haemochromatosis, I can't remember people saying they found useful, reliable information via direct-to-consumer tests. We don't know enough about ME genetics to pinpoint potential risk factors until DecodeME is completed, so a report won't uncover anything about that. I'd be fairly surprised if an analysis done by one of these companies pointed out many other genetic conditions, as so many of them seem to require detailed, expert sequencing of very specific regions of DNA rather than a general whole genome analysis. I think it might be a waste of money and energy, to be honest, as it couldn't tell you whether you're deficient in something, suggest supplements to take, or highlight whether dietary changes might help. These companies sell people the idea of unlocking the secrets of their DNA without mentioning that genetics is too complicated, and we know too little about it, to do anything of the sort.
And even if we knew the risk factors, they wouldn't mean much to someone who already has ME. Though I'm sure some people will enjoy finding out what genes the have for curiosity's sake.
I had my genome sequenced and am still in the process of trying to interpret the resulting mass of information. It's possible that actionable information will come out but obtaining it is hard work. A typical person has between 4 and 5 million variants in their genome. The effect of most of these will be unknown. Rarely, it will be a variant where the effect is known reliably. Sometimes an educated guess be made. Some of the information in genetics databases is also outdated or wrong. Many of the variants will have characteristics that makes them potentially disease causing and relevant to the person's illness and it will require a lot of work to identify the ones that matter. In some cases to confirm the pathogenicity of a mutation you'll need transgenic animal models. If there is a suspicion of a genetic cause of your illness, then I think your best bet is to consult a clinical geneticist. 23andME is not very useful.
I heard a useful bit of information from our local genetic screening unit for rare metabolic diseases. These people diagnose things like Fabry's disease, mitochondrial myopathies, and Morquio syndrome. They have increasing numbers of referrals of people who have had 23andMe or other commercial sequencing done. In now over 300 such cases NOT A SINGLE USEFUL RESULT WAS FOUND.
As far as I know the DEcode ME study is the first , biggest and imo the current best chance of getting some useful information. My understanding tells me that although the DNA information can be seen as the foundations to personal immune responss to disease, allergens, stress, biochemical networks and pathways, due to life, Epigenetics, pollution, ageing, randomness, etc, etc each persons response to anything and everything is highly individualistic. Therefore I feel it’s the downstream consequences of all of this muddle that is the useful data, ie how pwME respond to movement challenges/ energy using challenges perhaps. Or how our HR deal with daily living tasks, how these responses change depending on the level of poisoning/illness we are in whilst trying these things? I feel the most useful data comes from longitudinal studies where the patients are clearly diagnosed and defined. Unfortunately for all sorts of reasons there have been precious few of these. I am hoping that with the huge upsurge in LC and then ME that this will create sufficient awareness of the devastation to sufferers and their families lives, that something will improve and so help us all.
I'm pretty sure that all transgenic animal models will do is cause animal suffering. They will not confirm or identify human effects.
Your intuition is not correct. Animal models of specific genetic defects can confirm the relationship between the mutation and the disease observed in humans. I've read many papers where such findings were described. I share your concern over the well being of animals. Animal here can just mean a fruit fly. Yeast models can also be used.
It's a lot more than concern. I gained a Masters degree in science, and focused particularly on the reliability, or rather lack of it, of animal studies. An awful lot of science papers are rubbish. Yeast isn't an animal, as I expect you know.
I got my whole genome sequenced 2 years ago by Dante Labs, the lab that OP mentioned. Haven't found many good leads that would explain my illness yet though. But there's this one mutation in TSFM (Ts translation elongation factor, mitochondrial) gene that's marked as pathogenic in ClinVar that I've been pondering about. It's quite rare globally except in Finnish population that I'm part of. It's enriched here as 1:80. It's associated with "Combined oxidative phosphorylation deficiency 3" and "Primary dilated cardiomyopathy". It could be relevant because my mother died at age 25 from cardiac arrest. But echocardiogram didn't show any abnormalities in my heart. According to literature "no homozygotes were identified or reported, suggesting that homozygosity may be lethal" and so mine is heterozygous too (phew). The reason I've not yet tried to get it examined by medical professionals is that it's after all quite common in Finland and I'd think there'd be some more talk here about it if it caused disease/symptoms in everyone who has it. And I actually mentioned it to my doctor but was quickly brushed off by "genetic testing is expensive and takes a lot of time" argument. Anyways, I too am looking forward for the results from the DecodeME and hopefully something useful will be found trough it!
