1. Patients launch $1.27 million crowdfunding campaign for ME/CFS gut microbiome study.
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Hunting down the cause of ME/CFS & other challenging disorders - Lipkin in London
In a talk to patients in London on 3rd September, Dr. W. Ian Lipkin described the extraordinary lengths he and his team are prepared to go to in order to track down the source of an illness, with examples ranging from autism to the strange case of Kawasaki disease.
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Doctoral student from Lancaster University at Phoenix Rising Forum

Discussion in 'Genetic Testing and SNPs' started by Mette (PhD student UK), Aug 17, 2012.

  1. Mette (PhD student UK)

    Mette (PhD student UK)

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    Hello Everyone!

    My name is Mette and I’m a sociology PhD student at Lancaster University in the UK. I’m carrying out research on direct-to-consumer genetic testing where I’m looking into how individuals make sense of and engage with genetic data. I do not have a background in genetics but in sociology and I’m very interested in how genetic testing, particularly direct-to-consumer genetic testing, impacts on people’s lives.

    I’ll be here at the forum observing, but also engaging in conversations and asking questions. I’ve been in contact with Mark and he has agreed to let me do this. If anybody feels uncomfortable about my presence, please let me know and I’ll not include your comments in my study. You can contact me here on PR. Also, if you have questions about my study, please do not hesitate to contact me and I’ll be happy to answer all your questions.

    I’m particularly interested in how you use genetic data to understand and make sense of your symptoms and experiences of ME/CFS. I know a bit about chronic fatigue syndrome, but I would like to know more and hear from you. I’m here to learn about how genetic data matters, if it does, and how individuals with ME/CFS make sense of this stuff.

    My plan is to follow conversations and post comments and questions on topics relevant to the study. I’m also happy to share my findings with you.

    The study has gained ethical approval from the ethics committee at Lancaster University. My research is funded by Intel Corporation.

    I appreciate your participation!

    All the best,
    Mette
     
    Last edited: Jul 15, 2014
    taniaaust1 and sianrecovery like this.
  2. Jarod

    Jarod Senior Member

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    Can I ask why you chose this area of study and what you expect to accomplish?

    Thanks
    Jarod
     
  3. urbantravels

    urbantravels disjecta membra

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    I'm not sure I understand - is the expectation that many of us will have bought direct-to-consumer genetic testing for some purpose? I've never heard of the direct-to-consumer tests having any information on them that is relevant to ME/CFS.

    Since nobody yet knows what genetic factors actually influence the development of ME/CFS, not even at the cutting edge of research, it's hard to imagine that the "23 and Me" type of test would tell us anything helpful. All we know is that there almost certainly *is* a genetic connection but we're hugely far from being able to characterize those genetics.

    Some doctors who specialize in ME/CFS do various kinds of "genetic testing" with the idea that it can help guide treatment. I don't think we are legitimately at that point yet, and I question the ethics of selling tests and treatments that are so far from being proven. But then, I am a hard-line skeptic. Many patients believe other things about what treatments are possible and helpful at this point in time.
     
  4. Snow Leopard

    Snow Leopard Senior Member

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    This is an excellent question.
    Very few people can afford to do testing from places like 23andme, when surviving on disability income. Since there are no direct treatments related to SNPs discovered in such testing, most consider it a waste of money at this time, though the cost of genomic testing is dropping very fast, it is not unreasonable to expect full genome testing to be available in 10-15 years time for $1000-2000 - far better value than is available today and it would be relevant to all genomic based studies done in the future.

    The most interesting sociology study that I have in mind would be to examine why CFS is the most neglected area of medical research when considering the disease burden impact on society, receiving a magnitude of order less funding than almost every other disease when considering the disease burden (using the DALY metric developed by the WHO).

    Those of us on this forum know the reason for lack of specific findings (non-specific disease related abnormalities are found every year), is because of a general lack of research, which causes a catch-22 in the research community - no exciting findings brings no new people into the field and the general perception and prestige of CFS research remains low.
     
  5. Marlène

    Marlène Senior Member

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    Another interesting study would be why above average intelligent people (doctors) are so easily manipulated by their peers and lose all critical mindset once they have their diploma.
     
  6. Mette (PhD student UK)

    Mette (PhD student UK)

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    Thanks for your comments, and to answer your question Jarod, I’m very interested in how we live with science and technologies, and in particular, various kinds of personal health data. My view is that data is not just data, but data, so to speak, is ‘lived’ in many different ways, and we need to understand those practices and their impacts on people’s lives. Direct-to-consumer genetic testing is a very interesting area of study with a lot of stuff happening, and as genetic data moves outside the clinic, it’s important to get an understanding of the consequence of this shift in control of genetic data, how individuals make sense of this data and how it has an impact on people’s family life, work life, social life etc. The idea is to get an understanding of how genetic data moves around, and I’ve noticed some activity on DTC genetic data and CFS. And this is an interesting area of study, because, as you say Snow Leopard, it is one of the most neglected areas of medical research. Comparing this to Parkinson’s, for example, which gets a lot of attention, from amongst others 23andMe. How does genetic data make a difference, if it does, and how does 23andMe’s Parkinson’s initiative compare to the sort of ‘do-it-yourself’ practices of people with CFS? (recognising the reasons as to why this is).
     
  7. Marlène

    Marlène Senior Member

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    The main difference between doctors and chronic ill patients seems to be that healthy doctors in their full potential are not able to cooperate but very sick people do.

    When I'm in hospital or seeing a doctor, he will read my previous results but s/he does not seem to care to contact his colleague and agree upon a treatment nor does it seem to ring a bell in most cases. They will just cash the bill, write their report and I can move on to the next doctor because this one is reluctant to take his responsibilities.
     
  8. Snow Leopard

    Snow Leopard Senior Member

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    Given how debilitating CFS is, patients in general cannot do the sort of analysis as professional researchers (even if those CFS patients previously held those qualifications and skills).

    That said, the recent boom in genomic testing in general has had very little impact in medicine in general, with an extremely low return on investment. I think the reason is that the data generated totally overwhelms our traditional/simplistic models. SNP correlation can be great for hypothesis generation, but the real science doesn't begin until sophisticated theoretical and/or experimental models are generated involving gene expression along side the regular function of the cell (eg many variables being tested at regular intervals). To date I haven't seen that done with any disease.

    I don't think genetic testing is going to lead to any major advances until our scientific modelling improves by a magnitude of order, but that is not to say that such testing is a bad thing - such testing and data generation inspires scientists to do better - it is a sort of chicken/egg thing, you need both to advance.

    Getting back to CFS, a large majority of patients have rapid onset (or relapse/remitting for a year or two) after either an infection or an immunisation. Given this pattern, it is not clear whether there is likely to be a genetic cofactor leading to immune dysfunction or not. This is perhaps why over the years there has been little interest in researchers and patients alike for looking for a genetic cause.
     
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  9. natasa778

    natasa778 Senior Member

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    This is crucial imo. And even if there IS a genetic cofactor, the question is what you can do with that data in practice, how useful it is, if at all, in regards to picking the right treatments. My guess is that usefulness of genetic data for a patient would be very low, if any.

    On the other hand I read reports from people who have done Yasko's genomic panels and claim that it has helped them guide treatments - as in what meds are likely to be tolerated or needed etc.
     
  10. Calathea

    Calathea Darkness therapy

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    I've never heard of anyone having genetic testing in regard to ME or CFS.
     
    Adamskitutu likes this.
  11. richvank

    richvank Senior Member

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    Hi, Mette.

    You might consider joining the Yahoo cfs_yasko group or the www.cfsnutrigenomics forum. The former includes some people with ME/CFS who are guiding their treatment based on their polymorphisms as found in the Yasko nutrigenomics panel. The latter is Dr. Yasko's forum, and their is a section called Parents and Adults, which includes posts about ME/CFS.

    There are threads here on Phoenix Rising about use of 23andme in ME/CFS, and cross-correlation with the Yasko panel.

    Best regards,

    Rich
     
  12. greenshots

    greenshots Senior Member

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    Wow! I don't know if you've had any genetic testing done or not, especially with someone who understands how to approach them, but it really both amazes and saddens me to hear you say that about testing. I've had a very active biomed group, 30 strong, for the past 5 years and it is only now starting to disintegrate.........due to people like me getting so much better and just moving on with our lives. I've recovered two autistic kids (2/3 were affected) as well as myself (severe ME, in ICU for almost a month and bedbound for over an entire year!) and watched friends and family regain health and quality lives thru genetic testing and treatment.

    Its sure not a magic bullet and there's no single "autism" or "CFS/ME" gene to easily figure out this whole pathway. With all the variables, it sure doesn't lend itself to simplistic "double blind placebo controlled" studies (which is a hoax at best! I've participated in many trials in the ICU as an RN and believe me, they drop the people who don't fit their outcomes, etc). But as for me & my house, we follow the Lord as well as the best this medicine has to offer at the current time and it has blessed us time and time again. I just don't see how anyone whose really sick now has the option to wait another 20-30 years for all of these so called "un biased studies? when they do actually study them, it will be drug company funded with the idea of finding another "one size fits all" magic bullet. You'll be back to bandaiding a part of this pathway too but not providing comprehensive support. It can be expensive, very, very, very time consuming, and full of questions and uncertainties since its unchartered territory. Mostly, I've found the people I share this with just don't want to take the time it requires and that's a God given choice but in my opinion, its not terribly wise.

    We've become used to instant gratification with all the technology these days and there sure isn't going to be instant anything with an evolving scientific field like methylation. Its back to the good old days of studying, taking lots of your time and dwindling energy, and being willing to put the time and work in to get the old you back. I wish there was another way too, but when its said and done, I'm going to work with whatever I have left for options. The alternative just isn't acceptable to me. Thankfully, I was led to choose wisely, as have at least 40 more people that I personally know. so I can say with certainty that it works, research funding and studies or no.


     
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  13. natasa778

    natasa778 Senior Member

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    Angela, I am not denying your experience. It is what it is, and I am glad it worked for you and those other people.
     
  14. Marlène

    Marlène Senior Member

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    @ greenshots

    love your comment, all the best
     
  15. greenshots

    greenshots Senior Member

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    Natasa,

    I understand that you aren't implying success doesn't exist but a blanket statement negating the usefulness of genetic testing suggests you haven't done it. Or you have but don't have a knowledgeable practitioner so it might as well be useless. But my real concern is that someone who doesn't understand this will take comments like this out of context. We may not be quite "there" yet with genetic testing but then again, we're not really "there" in fully utilizing anything in medicine. Its all trial and error.

    Most people don't know this but patients are the "phase 4" part of drug trials. This means the jury isn't out yet but were gonna try it out on you or your loved ones and if they don't drop dead of something or go into kidney failure, and your doctor has to actually recognize its because of the new drug he started grandma on 3 months ago, then its a success. For all our talk and interest in the "newest" clinical trials or latest study, its all really a load of crap. Every drug out there was "studied" for safety and effectiveness (efficacy) but I wouldn't want to take 95% of them. Its back to finding an excuse to drop whoever didn't do well on the drug. Then there's the "cleaner" who is the person that comes in and makes it look all pretty and manipulates the data to fit the desired outcomes. I have some insider's knowledge here because a good friend of mine made really good money as the cleaner and finally walked away when she decided she couldn't live with herself. But bet your bottom dollar there's plenty who'll take her spot and live with it just fine as they cash their big checks every week.

    I'd rather test out vitamins and minerals that have been around for thousands of years on my supremely lousy methylation pathway then have 1,000 "scientific" studies backing drug A, B, or C. I'm not trying to be disagreeable, I just want to share what I've seen and experienced firsthand on both sides of the fence.

     
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  16. mellster

    mellster Marco

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    Agreed - the more you know about your specific case the better - esp. since at this point it seems very likely that there are multiple underlying causes and triggers. It's better to find out more about you and then apply known substances (supplements) than being a guinea pig in a drug trial for such a complex condition like this. I think some of the hostility comes form the fact that the psychology department has done a lot of damage to patients and sociology can be somewhat close - I think genetic testing is more part of this forum than many think as part of Rich's work is in the genetic realm (genetic mutations affecting methylation), also viruses (and other environmental factors) can turn on/off certain genetic expressions, so their state is not necessarily fixed and can be manipulated with various things such as diet and supplements.
     
  17. Little Bluestem

    Little Bluestem Senescent on the Illinois prairie, USA

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    The old me was 25 years younger. I'd love to have her back! ;)
     
  18. greenshots

    greenshots Senior Member

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    I'm right there with ya! Now that I'm closer to 50, I see the value of youth, even while I was too stupid to fully enjoy it! I also had kids late, which I really do not recommend!
     
  19. peggy-sue

    peggy-sue

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    I'd hate to be younger!

    I've got 54 years' worth of life experience to "plug-in" to my "autopilot". :nerd:

    This means my autopilot functions really quite well - I can get through doing things without having to think about what I'm doing - reasonably successfully. (Even if I do load the fridge with the dirty dishes occassionally...)
    The experience of my advanced years is not something I'd swap for anything.
     
  20. Mette (PhD student UK)

    Mette (PhD student UK)

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    I've noticed some of you talk about usefulness. In your opinion, what does it mean that genetic testing is useful?

    I also have a few other questions:
    What made you decide to get tested?
    What did you expect from the test results?
    What has changed from before to after the gene test?

    Mette
     

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