Curiouser and Curioser (What We Don’t Know. Yet.)

Curiouser & Curiouser

Wow. Moving along here.

Asked the genetic counselor why the celiac results weren’t included. Turns out that when I took the survey and it said that celiac results would be added to the test, well, the system didn’t check to see which branch of the study I was assigned to. I was assigned to Pathway Genomics, and they don’t HAVE a celiac test in their scan. Oh. They recommended I check out 23andMe. Oh.

That costs a chunk of change. A sizable chunk of change. And I’m in the middle of a small home renovation as a sequel to storm damage. Oh. I have to think about this.

Meanwhile some very interesting conversations happening and questions being raised in the PGEN thread in Patients Like Me forums. And while no one else on Twitter aside from me seems to be using the #pgen hashtag, there are also PGEN conversations happening there. As a direct results of chatting about the PGEN study with another study participant and an interested doctor, we’ve started swapping our data around via email. I mean, we are sharing our genomic scan results. The other patient/participant is in the 23andme branch of the study, but had previously gotten the Pathway Genomics scan, so I got to see how the report has evolved over time for that as well as being given permission to log in and browse around in her results on 23andme. Turns out several of my friends who are NOT in the study have also had these tests run, and those are resulting in more interesting conversations.

This has been fascinating! I’m not going to go into details in this post, but I’ve been very intrigued by not only what information is included but also how it is communicated. Both groups have room for improvement, and there are advantages and disadvantages of each. That will have to be another post.

One of the interesting parts of conversations with other study participants has been picking up things they know that I don’t. Or at least I haven’t heard. One tidbit mentioned was that the MTHFR mutation makes it hard to detox. I did a little searching on this, and the belief is that MTHFR deficiency impairs the body’s ability to process heavy metals. While most of what you find on the Internet about this is from less reputable sites, there are some actual research articles. Not a lot, though.

Pubmed: MTHFR (detoxification OR “heavy metals”):

I was less concerned with that than I was with all the test results for conditions that run in my family for which the genetic scan says I’m at low risk. Let me try saying this a different way. There are all these conditions that run in my family. Lots. But the scan says I’m not likely to get any of them. Hunh? That sounded pretty unlikely. Unless I’m adopted or the test samples were mixed up, something like that. Frankly, I’m the spitting image of my dad and have heard tons of stories about my mom in labor with me. I really don’t think I’m adopted. I think the test has missed something important.

There were several of these results, including conditions that many family members have as well as conditions I already have. I’m a bit worried that if the genetic scan is shared with my doctors and says I’m at low risk for something where I know I have a strong family history, would the doctors perhaps relax and not be vigilant about testing for those conditions?

An added complication was that almost all of the conditions that run in my family that the test says I probably won’t get are diseases that are known to be common in people with celiac. That’s … interesting. The genetic counselor kept saying things like, “Maybe there are other genes for these conditions that we don’t know about yet.” So. Alright. Thinking through this.

Disease X is common in a family.
Disease X has proven genetic component & known genes.
Disease X is associated with a 2nd condition, Disease Y.
Disease Y also has proven genetic component & known genes.

If the genetic test is negative for Disease X, is the person also negative for Disease Y?
If the genetic test is negative for Disease Y, is the person also negative for Disease X?
Does Disease X in some fashion contribute to or cause Disease Y?
Does Disease Y in some fashion contribute to or cause Disease X?
Are Disease X and Disease Y linked in some way, or are they independent of each other, and simply cause similar symptoms?

That’s not all, it gets … complicated. And we don’t know enough, not remotely. So getting the genomic scan has, for me, created many many MANY more questions than answers.

I suspect that the conditions in my family for which I tested negative on the genetic scan actually do have a genetic component that wasn’t included in that test. I strongly suspect, given that they are mostly associated with celiac and celiac was not included in the test, that celiac is the root cause of all of those. Of course, there is no proof, and even if we do the next test, we still won’t know enough. But. But.

There are things in the genetic scan I want to share with my docs. But without the information about celiac, I don’t feel safe sharing the results with my docs. Especially since my wonderful doc who I trust is leaving and I’m trying to find a new doc. Knowing the answer to the celiac question might help fill in some important pieces. If that is negative, it might just make for even more questions and confusion. I kept coming back to how much money it costs. I kept thinking about waiting until I have more money, waiting to see how much money is left after the house is fixed. House vs health. House vs health.

Well, I did it. I went ahead and ordered the 23andMe test. Lord, I hope this is worth it.

2 thoughts on “Curiouser and Curioser (What We Don’t Know. Yet.)

  1. Pingback: The Value of Openness: The PatientsLikeMe Blog » Learning Your Personal Genetics: An Interview with PGen Study Participant PF Anderson

  2. Pingback: It’s … Complicated. (A.K.A. “MTHFR Deficiency, Sequel”) | PGen Participant

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