How can I use genetic data for a real health issue?
September 13, 2014 11:23 AM   Subscribe

I have been suffering from health problems with cumulated in a diagnosis of fibromyalgia and chronic fatigue syndrome. Except most doctors I've seen don't think that's what I have, and frankly neither do I. As a long shot, I ordered a 23andme DNA test and ran it through Promethease. How can I use this data to further my quest for a proper diagnosis? Is that even possible?

(My medical history I write here is greatly abbreviated; its a much longer, more complicated story than this but for times sake, I'm limiting to the facts that seem relevant. That being said, if you have any questions that might help answer my question, I will be happy to share.)

I've had a long bout of fatigue going back to my late 20s, getting somewhat better and then increasing again around 2009. I started to experience an increase in pain in my legs early 2011. The pain is something I've had as far back as I can remember, but only happened when I was REALLY tired and very infrequent (a couple times a year). I really just associated being tired with a deep bone ache, which resolved after sleep. 2011, that pain started occurring more frequently - once a month, once every few weeks, to a few times a week and it moved into my arms. It was a bilateral pain deep in my legs and arms, feeling much like my bones ached (similar to the flu). My symptoms, especially the pain and fatigue, continue to worsen where pain free days are now a rarity (3 over the summer), and the intensity is increasing.

Backing up a bit; in 2012 I was diagnosed with fibromyalgia and chronic fatigue syndrome, but as a diagnosis of exclusion. One diagnosing Rheumatologist even said it was "atypical" fibromyalgia because I lacked tender trigger points, and it wasn't like other patients he had seen, but since they "checked everything" that was his diagnosis. Of course, that's not actually true there are a multitude of illnesses that weren't checked, and being stubborn and feeling like I was categorically placed into the wastebasket diagnosis category. (To complicate matters, I've had a number of doctors be doubtful of the diagnosis, but at a loss of what to do or where to send me.)

I pushed on searching for what was causing my illness. I eventually found a pain specialist who is a well respected fibromyalgia expert. First he didn't think my condition sounded like fibromyalgia, then on a particularly bad pain day, he thought it did, but now he's back to not being so sure with the development of new symptoms. We're still working on it BUT . . .

In the meantime, I got my 23andme results back. For those not familiar with the recent state of affairs, 23andme can no longer give health information. However, there is a 3rd party service called promethease which will give similar results based on published studies on genetic information. The data comes from

Now, I understand that genetic testing like this is in it's infancy, and at best it can really only give me hints as to potential problems I might be predisposed to. And so this is where I am not sure how I can use this data to help influence my search for an accurate diagnosis. But there were some interesting results. For instance, it had a couple SNPs with an increased risk of Restless Leg Syndrome. Guess who has two thumbs and has been diagnosed with severe restless leg syndrome? This gal.

A number of SNPs suggest I have an increased risk for a number of autoimmune conditions, and I've had two doctors suggest that they feel my symptoms sound like an autoimmune disease, even though I have never tested positive for any. But sometimes my WBC count is just a little high, and I've had my SED rate be just a little high. A dermatologist looked at my thinning hair and opinned that it looked like I was in a non-active phase of shedding, but it the thinning pattern is something she would expect to see in an autoimmine disorder. Yet still, nothing definitive.

One of particular concern in my genetic results is "greatly increased odds of developing V617F-positive MPN". It's the first item that comes up in the bad column. I did some reading up on it, and although it's considered rare, some of the symptoms like bone pain and fatigue, are spot on. But others are not. I don't know if I should be using this data to talk to my doctor about it, or if it's not relevant to my current condition.

And that is sort of the question. Should I be using this and other risks to help guide my search? Should I just sit down with my doctor and say "hey doc, here is what my genetic information says, where do we go from here?" Will my doctors even know what to do with it?
posted by [insert clever name here] to Health & Fitness (9 answers total) 3 users marked this as a favorite
I don't see any reason not to show the results to your doctors, but I don't know what they would do with the information, either, unless there's more to it than what you've shared here. even though you have an increased risk for a myeloproliferative neoplasm, that doesn't seem helpful if you don't have one. and those are diseases that are not diagnosed based on nonspecific, common symptoms of many illnesses like fatigue and musculoskeletal pain (unlike fibromyalgia). Slightly elevated WBC and sed rate are also nonspecific findings that occur with many inflammatory processes/stress. Sorry, I wish I could be more optimistic. Anyway, it doesn't sound like you have much else to go on, and you have to continue going to doctor's appointments anyway, so there seem to be no drawbacks to showing them the results?
posted by treehorn+bunny at 12:07 PM on September 13, 2014 [1 favorite]

Have you seen a geneticist? They talk to patients about risk factors based on a genetic profile. They could use the results you have to perform more specific testing. Not all diseases have a genetic marker so you may come up with nothing. A geneticist would be the best person to help you with this information.
posted by littlewater at 12:25 PM on September 13, 2014 [1 favorite]

There is a woman who did this for herself:

DIY diagnosis: how an extreme athlete uncovered her genetic flaw

She found the genetic link between the various seemingly unrelated issues she had had over the years. Perhaps reading her story will be helpful to you.

at best it can really only give me hints as to potential problems I might be predisposed to

No, that is not true. In some cases, having specific genes is a straight up confirmed diagnosis. Some conditions are a case of "if you have one of these genes (or two of them, depending on whether it is dominant or recessive), then you have this disorder."
posted by Michele in California at 12:26 PM on September 13, 2014 [2 favorites]

Check out the website called genetic genie. You have to feel comfortable uploading your raw data. It's free, donations are accepted. It was very helpful to me!
posted by icanbreathe at 5:06 PM on September 13, 2014

Response by poster: "Methylation and detox analysis" shows up in a lot of woo sites regarding genetics. Is there any evidence to support the interpretation supplied at Genetic Genie?
posted by [insert clever name here] at 5:44 PM on September 13, 2014

First, I just want to say that I'm so sorry for your pain. It sounds like it's been a rough road for you thus far.

Like you, I know the frustration that goes along with knowing something is very wrong with you and not being able to get a definitive diagnosis you and your doctor(s) can agree on. I have been through the roller coaster enough myself that almost by reflex when I read your symptoms my head went straight to, "Probably a connective tissue disorder (rheumatoid arthritis, possibly others?), but no one knows. And of course they just say fibromyalgia.Harrumph."

Because that's what you end up doing a lot, trying to fit the puzzle pieces together. Welcome to the wonderful world of autoimmune disorders! Fibro was not one of the ones they went with in my case (I think with me, when I first had liver stuff they thought maybe cirrhosis or hepatitis, but when the kidney stuff came up they moved on to lupus and just bypassed fibro altogether), but yep, you're right that it has, unfortunately, become the newly popular accepted 'diagnosis of exclusion' when the docs are stymied by your symptoms. Which doesn't mean it's necessarily wrong in your case, of course.

I understand needing to be your own advocate, and also worrying that maybe it doesn't mean anything, or that your doctors won't take your sleuthing seriously, or won't know what to do with the info you've found anyway.

But as someone who has been where you are, I always feel like the more information you have to work with, the better. So, YES, I would definitely share the fact that you had this screening done and the results you received with all your doctors!

But also being more experienced with doctors by now than I ever wanted to be, can I make a suggestion? I would caution against your telling them what YOU think the results might mean in any way until AFTER you ask them for their interpretations. I find you have a much better result when the doctors feel like they are showing off their expertise (and you are just asking informed questions) than when they feel you have come in trying to diagnose yourself and challenging that expertise. Sorry if that sounds cynical; of course, YMMV. I am sure all your doctors are awesome. ;)

Also, if you drop back in and are okay giving the info out, could you share how high your sed rates have been? (If it's too intrusive, please forget I even asked. I'm always collecting data, too, to relate to my own stupid health stuff!)
posted by misha at 11:21 PM on September 13, 2014 [1 favorite]

DNA methylation and the cytochrome p450 system your body uses to process various things you ingest are very real physiologic processes. It seems possible that it would be interesting to analyze these features of your genome, although I'm uncertain how well we truly understand what methylation means in disease processes that it would actually translate into concrete diagnostic or management options for your issues - disclaimer, I'm far from being a geneticist.

Whether it makes sense to take those results and go to a naturopath and start taking a variety of supplements based upon them.... well, I certainly would question the evidence before doing anything like that.
posted by treehorn+bunny at 2:38 AM on September 14, 2014 [1 favorite]

Response by poster: Misha, it never was very high. I have not problem sharing anymore. ;)
Below are my numbers:
Reference range 0.0 - 15 mm/Hr results: 16 | 25 | 25 | 14
Those are over the course of 2 years. I was told it's not "very high", (other than the last, which is within the range) which I think corresponds with my reading online. But it also bugged me that there was a range, and most of my tests were outside it, so was something going on? It's been a litany of results like this, that are just slightly abnormal, but not high or low enough to have my doctors do anything but comment on it as an anomaly. If I was asymptomatic, I wouldn't care in the least bit.

Can I turn it around and ask about your liver symptoms? I have had elevated liver enzymes on a few occasions, and for the most part, the doctors have taken a wait and see approach and they always return to normal down. They always ask is if I drink, and I don't really, not any appreciable amount. I went to a bar on a better day with a friend once this spring and that was the first drink in 2 years, and none since. But once I say I am an infrequent drinker, they seem to stop worrying. But that doesn't keep me from wondering what is going on; and if I've just been lucky to have testing done when they've been elevated; who knows how often it is and I don't know it.

Treehorn+bunny, thanks for the clarification. I'm a tad gun-shy with neo-medical/alt-medicine theories, having to learn to sort what sounds real and what is actually supported by evidence. I've noticed since digging into genetic testing that there are a lot of what appear to be false claims by supplement hawkers regarding methylation and how you can fix it with nutritional support, and maybe a really expensive consultation. So much real medical language has been co-opted that I bristled when I saw methylation and detox together, that my alarm bells went off. Unfortunately, I don't know enough about the role of methylation in gene expression to understand what information would be worth while, and what is pure woo. And thus I'm afraid of clouding my data with incorrect conclusions that I can't separate from useful ones.

littlewater, or anyone really; I thought geneticists and genetic councilors tend to speak to people about the big risk factor problems like huntingtons. Do/can people set up an appointment based on what you find with genetic data like 23andme?
posted by [insert clever name here] at 5:08 AM on September 15, 2014

Oh, YES, consistently borderline and inconsistently high results suck. Unfortunately, if you aren't having an active flare up with obvious symptoms to treat, you may not be able to do much about them, or figure out why they are happening. Try not to drive yourself too crazy worrying, which I know is easier said then done, and only focus on what is consistently and actively out of range whenever possible. Keeps the stress levels down. (FWIW: My sed rate was 27 last time, and I was told that was "elevated but not very high". So the ranges are definitely open to interpretation).

Can I turn it around and ask about your liver symptoms?

Sure! I had high alkaline phosphatase results for several years. At first, high end of normal range, and I drink as rarely as you do, so that was a mystery and it concerned my doc, who ALS tok a wait and see approach. And then the levels went up some more, so now they were out of range, and stayed that way for a year, I think? The only symptoms I remember at the time were occasional fatigue (nothing near where it is now though), abdominal stuff and swollen ankles, plus some unexplained rashes I thought were hives at the time.

Abdominal ultrasound didn't show anything obvious, and then, like I mentioned, my kidneys started acting up. We never really figured out the liver thing, but last time my enzymes were borderline in range again anyway, so one less thing to worry about now. I have since stopped the HRT I was on back then, so that may just be an unexpected bonus.
posted by misha at 6:03 PM on September 15, 2014 [1 favorite]

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