Thursday, November 1, 2012

"Why I Don’t Want to Know My Genome Sequence"

"Why I Don't Want to Know My Genome Sequence"

Kind of interesting to read this as someone who at least has his own exome sequenced and has learned a lot from it. It's kind of interesting to read it in contrast to my own post explaining why I wanted to sequence myself.

It ends with a funny statement:
An osteoarthritis mutation manifested itself as an inability to play an F chord at age 33. A p53 mutation and then another that bloomed in response to years of orthodontia X-rays gave me thyroid cancer a few years after I gave up the guitar. And I don’t need a genetic test to know I didn’t inherit my father and grandfather’s psychotic depression. 
Ron Crystal, even though he’s among the sequenced, has the right idea: don’t smoke, exercise, eat a healthy diet, and don’t worry about DNA sequences. That’s good enough for me – at least for now.
This is one of those statements used to make one's self feel better about not doing something he or she wants to do. That's my feeling, at least.

To be more specific, let's use myself.

Sure, I could have lived my life thinking my borderline migranes were from caffeine withdrawel and my mother and not bothered to find out the exact mutations likely to cause it and therefore which drugs may actually have a beneficial effect on me. I could have. But I didn't.

I could have lived my life thinking my intestinal issues were due to a bad diet or food allergies. Because clearly copious amounts of salad, low fat, low carb, low salt is a bad diet, right? And clearly my wife who eats the same things and has zero gastrointestinal issues is just lucky. Oh no, it must be food allergies. It couldn't possibly be that I inherited two mutations, one from each parent, that damage a particular gene already known to be causative for gastrointestinal problems (among a number of other things that I happen to have that most general practitioners wouldn't link together).

I could have survived without knowing I have asthma. Maybe.

I mean, go ahead and live in ignorance if that's your thing. If you're not interested in your own genetics, then fair enough. You're not alone. But it was damn reassuring to me, personally, to figure out exactly what genes are mutated and how those are causing conditions that negatively effect me.

And I would say not only am I healthier, but I'm also more aware of my health. And that's a good thing.

And that genetic information isn't going to expire.

Anyway, let's not devalue our genetics this way. The fact that we don't know everything yet doesn't make the data itself less valuable. Yes, it will take effort to understand but then again, so does nearly everything about your health and life.

I see it as a great thing.


  1. I don't want my genome sequenced. I watch my grandfather through alzheimer's. My father was on the path when he died from other causes. I do not want to know if I have inherited that genetic risk. I want to live my life hoping I can look forward to my old age. If I had current health issues or if there was accessible early treatment then finding out for sure about the alzheimer's might be a price worth paying, but I don't and there isn't.

    I am glad your exome sequence was useful to you, but why the snide tone to those of us who make an active choice to live in ignorance?

    1. Thanks for your post.

      I'm sorry if I came across as snide. I did not intend to deride those who choose to live in ignorance of their own genetics. As I said, many people make that choice and I think it's totally fair for them to feel that way. I know numerous geneticists who feel the same way. But those people do not simultaneously justify their feelings by denigrating the field's current ability to interpret the data, which is a new but rapidly advancing science, and that's really what bugged me about this article.

      There is a stark difference between DTC genomics in which you may find out things you don't want to know and clinical sequencing, in which results would be returned to you on a "need-to-know" basis. I think this is why we haven't seen 23andMe, for example, start to offer DTC exomes generally yet. They must recognize the risk of returning both incidental findings and clinically relevant findings that people may not want to know.

      All of that said, you may not want to know whether you have mutations predisposing you to Alzheimer's, but wouldn't you want your doctor to know that you have mutations predisposing you to breast cancer or prostate cancer?

      That's a problem with the post in question, in my opinion. It blends DTC and clinical sequencing together and treats them similarly.

      My response was also in part a response to the statements in that article that we don't really learn anything positive from getting ourselves sequenced that we wouldn't be able to learn from alternative assays. I completely disagree with those statements.

  2. MJ,
    I am really curious what you learned about your migraines from your exome sequencing. Would you mind providing more details?