Invest in ME Conference 12: First Class in Every Way
OverTheHills wraps up our series of articles on this year's 12th Invest in ME International Conference (IIMEC12) in London with some reflections on her experience as a patient attending the conference for the first time.
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Clinical Geneticists, and their usefulness (or lack thereof)

Discussion in 'ME/CFS Doctors' started by JaimeS, May 10, 2016.

  1. JaimeS

    JaimeS Senior Member

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    Sorry, guys, for some of you this will be a bit of a re-hash.

    So, I reached that moment we all reach with every ethical physician we see who isn't an ME/CFS expert: the part where they shuffle their feet and shuffle you off to someone else. Someone they presume must be better-equipped than they are, because they are just as susceptible to the myth that medicine has all the answers as anybody else...

    ...wait, wait, I'm starting a rant, and you're all familiar with that particular tune. ;)

    So awhile back I wrote that my immunologist wants me to see a geneticist, but I was skeptical about the benefit. I mean, just how many tests are they going to run for how many disorders in how many systems? But I was looking at some of my bloodwork and I have a suspicion that it would be smart to test for disorders related to gluconeogenesis. There are hereditary gluconeogenesis disorders that become serious later in life, and symptoms are similar to ME/CFS.

    Additionally, these disorders put you at risk for liver failure, which my mom went through at her onset 35 years ago, and all for no apparent reason. (She was not a drug user, she didn't drink at all, and she didn't have hepatitis... no one understood why her liver was failing/damaged, and they still don't. Her liver is no longer failing, due to an insane diet no one would ever want to follow, and/or complete and total chance.)

    Regarding my article about 'Why Don't They Call It Type III Diabetes?', there is evidence of blood sugar dysregulation in ME. I just am not sure it's the prime mover, or that this one, small study is the final word.

    Finally, the immunologist strongly suggested I get my mitochondrial function looked at by a geneticist. "There are too many problems in too many systems," he said, "for this to be anything but a problem at the cellular level."

    Thanks, doc, we did pretty much know that much. ;)

    So:

    1) Is it reasonable to get gluconeogenesis-related and mitochondrial-function testing done by a clinical geneticist?
    That is, are these tests reliable and cheap enough to do the 10-11 tests I'd need? Do they prove anything, or are they tutted over like Lyme testing?

    2) Is there any treatment for mitochondrial disorders?
    I know some of us here have been tested for them. If you were tested, and received a diagnosis, what happened next? It's all very well and good to have a diagnosis so you can write something down on your medical chart, but I don't see the point if there's no treatment to address these disorders. "Co-Q-10 deficiency" as a dx doesn't count; I already know that's going on, and I already take quite a lot of it. Unless it gets me prescription CoQ-10 injections or something, who cares, from a practical standpoint?


    3) Does anyone know of a decent clinical geneticist on the east coast?
    I will be in the D.C. area in June, so it might be possible for me to visit someone, then.

    4) In your experience, can another physician recommend specific genetic testing to a geneticist?
    Alternately, my immunologist IS a good guy, and would happily write out recommendations for testing to a clinical geneticist, if that would help convince them to sign off on said testing. Has anyone done anything like that? This would be especially useful because it's hard to find a geneticist of any sort where I am; and the ones closest to me appear to be doing genetics workups in early childhood, and as they relate to cancer, only.

    Even if you can answer only one of the above, I'd appreciate any feedback you may have.

    Thanks to PR as always!

    -J
     
  2. duncan

    duncan Senior Member

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    I am not sure about clinical geneticists. I think I met one from a small group in my state in the NE US, but I was unimpressed. Besides, they ended up recommending genetic testing outfits, and I had already done my due-diligence on them.

    Two genetic testing outfits: Invitae and GeneDX. I got tests through Invitae.

    All that needs to be done is a doctor, should be any doctor, fill out their form online that pertains to the category of genetic anomaly they suspect. Invitae does the rest, including sending a phlebotomist for the blood draw if necessary - sometimes saliva is sufficient.

    The cost is reasonable if insurance doesn't handle ($100 - $200? You'll need to double check this). They also have genetic counselors.

    I guess this is not the same as a clinical geneticist. But Invitae can put you in touch with one of those as well. They are in California, but the genetic counselors I spoke to from them were in NC, and one of those counselors put me in touch with a geneticist in NJ, that was NOT the geneticist I was so unimpressed with (also in NJ)

    At the very least, maybe you can check out Invitae's website and see the type of testing they offer? Mine pertained to Long QT and channelopathies.
     
    Last edited: May 10, 2016
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  3. msf

    msf Senior Member

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    I did not know that clinical geneticists existed. I still do not really see the need for them, since surely any doctor can order a genetic test if they suspect a genetic mutation is causing a particular disorder. If your immunologist is a nice guy, can´t you just ask him to order those tests for you?
     
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  4. msf

    msf Senior Member

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    I´m pretty sure they don´t exist in the NHS. I got some genetic testing done through my GP (for alpha-1 antitrypsin). I think they also tested for one of the mitochondrial disorders. I found out that I am a carrier of the Z allele, which basically means that my immune system probably sucks a bit (which I already suspected), and that I should ask any prospective partners what alleles they have on a first date, or only date non-Caucasians, since if you get two Z alleles your lungs and liver don´t work very well.
     
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  5. JaimeS

    JaimeS Senior Member

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    Yes. The thing is, in the U.S. and with my insurer, they really will only pay for tests recommended by physicians that are 'qualified' to order them. If they feel the test isn't within the scope of the physician in question's specialty, then they will refuse to help pay for the test. :(

    -J
     
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  6. msf

    msf Senior Member

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    I did not know that. I wonder if it is the same in other countries. It made me think about the fact that the US spends way more of its GDP on health care than any other country - I guess the free market isn´t very efficient either sometimes!
     
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  7. JaimeS

    JaimeS Senior Member

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    Not a free market system anymore per se. Our health care worked VERY BADLY as a free market system! I'm not sure it's working much better, now, but at least the poor don't have to resort to going to the physician only, as my mom's doc used to say, when they had "one foot in the grave, and the other on an banana peel." :thumbdown:

    The US spent an enormous amount on healthcare in part because we think it's 'rebellious' to eat a cheeseburger dripping with grease than to take good care of ourselves. Especially amongst the older, male demographic, if you look after yourself, you're a bit of a pansy or a square. This is mostly prevalent in my parents' and grandparents' generation; my stepfather thinks working out is for layabouts who don't have enough to do at home, and won't be convinced that there's a difference between mowing the lawn and cardio. He also believes a real man never orders a salad as a meal or is on a diet, for health reasons or otherwise. He thinks food intolerances are nonsense, even the ones he has himself.

    Ugh, sorry, a rant happened again. But basically my point is, it isn't the free market that makes US citizens spend so much per person on healthcare. Nor is it people who visit the doctor often to check in about their health. It's the opposite: it's the cowboys who think that they don't need a doctor... until their accrued health conditions pile up and they need a triple-bypass, expensive medications, and an emergency-room visit followed by a long hospital stay.

    Or so I thought, but I figured I'd better check before saying something that sweeping.

    Well, it turns out that people in the US go to the doctor less than any other wealthy country save New Zealand, so my assessment that part of the problem is there MAY be right. Another reason is that the same procedures cost far more here than they do anyplace else. That may be the result of the free market, but it's probably the result of the opposite: it's been set up like a monopoly, where you often only have one provider for the service you need, and it costs however much they say it does. (John Oliver did a memorable bit on this in Last Week Tonight.) Finally, Americans are overtested and drugged out of our bloody minds. We get way more medical testing (Americans' love of tech and innovation over good sense? Quite possibly). The 'drugged' part is definitely in part because of some BRILLIANT legislation making it legal to advertise prescription meds here on TV and in magazines.

    There are even commercials for drugs to mitigate the side effects from the other drugs you're taking. It's creepy.

    America has an opiate problem as well... you may have heard.

    We also have 1/3 more C-sections than any other developed country. WHAT. WHY. WHAT.

    -J
     
    Last edited: May 10, 2016
  8. JaimeS

    JaimeS Senior Member

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    Thank you so much for this, @duncan ! Invitae looks great for immune dysfunction too. Now, if I can get a sensible doc to order it, and convince my insurance that it's necessary...

    Hurdles always. One of the most maddening parts of the illness is all this bureaucratic wrangling.

    -J
     
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  9. IreneF

    IreneF Senior Member

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    You will be close to NIH. Call them; they diagnosed me w/CFS about 12 years ago. I just called them and got an appt. (Access may be different now.) (I had no regular doc because I had always been healthy.)

    http://cc.nih.gov
    http://cc.nih.gov/contact.html
     
  10. JaimeS

    JaimeS Senior Member

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    For genetic testing, or in general, @IreneF ? I'm not really looking to get diagnosed with CFS; I'm satisfied that's what's going on, but believe that ME/CFS may be multiple illnesses or have multiple subtypes. I'm hoping to discover something that gives me potential treatment avenues to explore.

    -J
     
    Last edited: May 10, 2016
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  11. bel canto

    bel canto Senior Member

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    @JaimeS

    The legal system in the U S is part of the problem with over-testing and over-treating patients - cya mentality, Doctors are afraid of getting sued, and patients often want more testing than is really needed.

    Another piece of our problem is that many docs own all of part of testing facilities and treatment centers, such as surgical centers, as well as even hospitals in some cases. Some of these bill the insurance companies at outrageous rates, hoping to collect at least some of the excessive charges. There are some investigations into some of these practices in our local area, so it will be interesting to see what, if anything, comes of it.

    I'm on the west coast, and am also interested in genetic testing related to mitochondria and other specific pathways. While I haven't yet spent time exploring the possibilities, I do plan to. Let me know if you are interested in anything out this way. Good luck with your search!
     
  12. msf

    msf Senior Member

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    Well, I didn´t mean free-market as in an actual free market, since they don´t exist. I was just comparing it to the socialized medicine we have in the UK (I am definitely not championing our system, by the way). I think in the instance you mentioned though, the lack of efficiency seems to be in the private sector rather than the public one.

    As to why Americans don´t go to the doctor much, could it be partly because medical care is really expensive?
     
  13. msf

    msf Senior Member

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    Re: having 1/3 more C-sections, perhaps you make the money back through a reduction in the amount of elective vaginoplasty.
     
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  14. JaimeS

    JaimeS Senior Member

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    Yessss. I mean, it's why I'm not getting genetic testing done as we speak. I'm horrified at the thought of the cost, even if my insurance DOES help.

    -J
     
  15. duncan

    duncan Senior Member

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    @JaimeS , please double check Invitae's payment policy. I think it is something along the lines of if your insurance carrier refuses to cover testing - many, if not most, refuse - then the patient pays no more than $100 to $300.

    I know that is still a lot, but it's far better than the $1,500 or more they charge.

    But double check. My memory sucks.
     
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  16. Valentijn

    Valentijn The Diabolic Logic

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    It doesn't seem to make much sense. Geneticists look for genetic problems ... at most, prior testing and symptoms might indicate likely diseases and likely genes to look at first. But I wouldn't expect them to specifically know much about any particular disease, especially in relation to lab tests.

    Yes, there are often treatments. It depends on the specific gene involved.

    A geneticist would probably like to know where to look, as it narrows things down quite a bit and saves a ton of time. So your immunologist might indicate that he suspects a genetic immune dysfunction in his referral.
     
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  17. SickOfSickness

    SickOfSickness Senior Member

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    I don't think a clinical geneticist is an MD. A medical geneticist is an MD.

    For most insurance, I think they are okay with any MD or DO. (Maybe the MD being a geneticist would help you get approval.)

    Some insurance might be okay with an NP or PA ordering the test.

    I don't know if you have Medicare, but they refuse to pay for the main mitochondrial test panels or WES. I believe they refuse to cover a lot of other genetic testing too.

    Mitochondrial genetic testing is probably not what you want to start with, especially if you don't have a nearby doctor or insurance coverage. You can first get a bunch of blood and urine tests and see if any abnormalities show up.

    I don't know your symptoms, but people can have mitochondrial problems without having a genetic mitochondrial disease. I would suggest trying some of the mitochondrial supplements. Yes, even if you get diagnosed with a genetic mitochondrial disease, they will put you on a bunch of supplements.
     
  18. JaimeS

    JaimeS Senior Member

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    In looking at the genetic tests, I found this:

    http://www.genedx.com/test-catalog/available-tests/hyper-ige-syndromes-panel/

    Hyper-IgE syndrome matches my symptoms and bloodwork very well, although I would have one of the less severe manifestations.

    BUT, as @Valentjin said, just because you have the bloodwork doesn't mean the problem was in your genetics; you could have acquired a disorder that's the same via insults from the environment. I mean, I didn't always have these symptoms... though IgA basically continues to decrease as you age, so presumably your symptoms could worsen over time (bloodwork is high IgE with low IgA, which I have).

    A study correlated symptoms and bloodwork with likelihood of having the genetic mutation; when I answered questions, I ended up dead in the middle of the scale, which they had marked as 'likely carrier of the mutation'. Even with IgE at the lower end of 'elevated'... some patients have IgE in the thousands.

    Of course, if that was funded by the makers of the test, according to them, everyone is probably likely carrying the mutation. ;)

    Also, another one where I suspect management of the symptoms is just what you'd expect: antifungals, antivirals, etc etc... so the point of testing, there, is...?

    -J
     
  19. msf

    msf Senior Member

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    Yes, as you said, you didn´t always have ME so it is unlikely that your current illness is completely hereditary. I think the kind of genetic testing that would be relevant for people with ME is not available yet, and neither are any treatments that might be useful in that context.
     
  20. IreneF

    IreneF Senior Member

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    I was using my own experience as an example of how good they are. I never went thru the experience of going to several docs and waiting years for a proper diagnosis.

    I would call them anyway to see if they can help you. NIH probably has the biggest collection of medical experts in the country.
     
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