Tuesday, February 3, 2009

Personal Genomics & The Burden of Knowing

Like many bioinformatists, biologists, scientists, and technologists I am very interested in personal genomics. I have kept track of the start ups that are doing personal SNPs analysis and have been eagerily waiting for sequencing costs to drop to the point were the $1000 genome is possible. I envisage everyone having their personal genome done and programs to analyse the data being so widespread that even a "My Genome Facts" Facebook application would not seem out of place.

Of course I have read lots about ethical worries about how the data could be mis-used or how the public can not handle the probabalities of having a certain disease. Personally, I have always thought these were blown a bit out of proportion and that personal genomics will in general be a good thing. More data is better right?

Well, I just read an article called "The Burden of Knowing" by Catherine Elton in the Boston Magazine and it really made me reconsider my previous thoughts. Elton starts out explaining about personal genomics and specifically about Knome, the first company to do complete personal genome sequencing. She then starts to delve into her personal choices regarding her susectibility to having the BRCA1 gene. The article is extremely well written, and unless I am becoming a complete softy, quite sobering.

A small excerpt that I really enjoyed was this:
The counselors then mentioned another option: having my ovaries taken out and my breasts removed. Here we were, talking about science's ability to look along a submicroscopic piece of DNA, searching for missing letters on a strip of a gene, and yet if science found that letters were missing—if the gene had the cancer-risk mutation—the best it could do was amputate or sterilize. These options seemed as though they should have been filed away in a medieval remedy book, somewhere between leeches and bloodletting.

So did the story change my view on personal genomics? No not completely, but I do think that getting my genome sequenced might not be as fun as I first thought. Too bad there are not many positive attributes linked to genes like "gene variant Y will allow you to live a long life despite your lack of physical exercise" or "you have an improved version of the alcohol dehydrogenase gene, so feel free to drink more beer".


Benjamin Good said...

I'm going to risk sounding a little callous in the face of your quote there because I think its important..

A question for you. How is genome sequencing fundamentally different from that earlier technological advance in the science of knowing thyself - the mirror? Looking into the mirror can have many negative consequences in terms of self-image and no doubt has been the principle technology in driving many to their deaths or to surgical disfigurments yet people don't argue about whether you should be allowed to look at yourself in the mirror. Its up to you.

While I feel sorry for those that aren't going to like what they see in the mirror of the 21st century, I think the vital thing right now is to (1) protect the rights of those who choose self-knowledge over self-ignorance and (2) make sure that the use of this technology remains a personal not an institutional choice.

Morgan Langille said...

Nice analogy, but I'm quite sure people (or anything self-aware), have been checking themselves out in water reflections way before mirrors were invented.;)

Anyway, I agree that limiting someone's choice to look at their own genome is not the way to go. The problem is that the genome requires some type of interpretation (otherwise people will be staring at 3 billion A,T,G, and C's)and I think the big question is whether that responsibility should be regulated. If so, does it fall under a medical doctor's responsibility or some other (possibly new) professional? Personally, I like a free market and let people choose their own interpreter or interpretation program.

The main point of my post was not about regulation, but rather that knowing my own genome will likely unveil some scary stuff. However, I would still love to have the opportunity!