The Human Genome – What It Means to You (If You Want to Know, That Is)

DNA double helix*

Lately I’ve had the great honor to work with a researcher who is involved in the development of what will likely develop into a major weapon against disease: personalized medicine. My extremely simplistic explanation of what that means goes like this: many diseases, particularly cancers, are genetically based.  That is, mutations on a certain gene can cause you to be predisposed to develop a certain kind of cancer.  For example, genetic researchers have identified BRCA-1 and BRCA-2, breast cancer suppressor genes that prevent tumor development.  Genetic mutations in these two genes have been linked to the development of breast and ovarian cancer.

The practical application of this is that which gene is affected, and the way it is affected, can influence the way that you respond to medications and treatments for the condition.  That is, if you had a mutation on BRCA-1 as opposed to BRCA-2, you might respond better to Drug A than Drug B.  This science is very preliminary, but we’re learning more and more about how genetic factors relate to which treatments will be effective and which diagnostic tests will be accurate.  The researcher I know has told me that we’re a good ten years away from this becoming a part of regular medical practice, but at some point, it’s theoretically possible that you could receive targeted drugs designed to treat your specific illness.  Incidentally, Steve Jobs had his pancreatic cancer sequenced, but it was too late for him.

There’s still a lot we don’t know about how the human genome really works, but we have a lot of data.  This is part of the reason that it’s so exciting for me as a librarian to be involved in data curation.  In library school, I took a class in the biomedical engineering department called Medical Knowledge Representation.  For me, what it really boiled down to is this: right now, we have a lot of data, but we don’t quite know how to tease out real knowledge from that.  We can look at two different patients and see that one responds well to a given treatment and the other does not.  We have their tissue samples and their genetic info, but at this point, we haven’t quite got the know-how to get to the correlations between the genetic factors and the treatment successes.  In a way, the answers are there, but we don’t quite know how to read them yet.  As a librarian, I can help scientists preserve their data in a way that will facilitate it being used in ways that will aid in the discovery of cancer cures, once we have a greater understanding of how exactly the human genome works.  That’s pretty awesome.

As I’ve said, we’re still several steps away from having personalized cancer cures. However, there is a lot we do know, and there’s a lot that anyone with 99 bucks to spare can find out about his or her own genetic secrets, through a service called 23andMe.  It goes a little something like this: you spit in a tube and mail it back with your $99, and then in 6 to 8 weeks, you get to learn all about your genome.  You can find out more about your genetic ancestry and learn what percentage Neanderthal you are.  You can learn which diseases you’re at risk for out of a list of 116, including Alzheimer’s, a handful of cancers, Creutzfeldt-Jakob Disease (aka Mad Cow Disease), and even the dreaded Restless Leg Syndrome.  You can find out whether you’re likely to respond to 20 different drugs for everything from hypertension to depression.  You can find out what eye color you’re likely to have, in case you don’t have a mirror, I suppose.

I’ve looked at what the site can offer, and I guess at this point in time, I’m unsure whether I’d want this service.  I’ve known about 23andMe for awhile, but I came across some marketing they’re doing for the holiday season, I guess – 23 reasons to give their service as a gift.  My question is, would I want this as a gift?  Okay, so doing this can tell me that I’m at increased risk for, say, breast cancer or cirrhosis of the liver.  However, at this point in time, as far as I know, there’s absolutely nothing that I can gain from this information.  We haven’t come far enough that I could say, aha, I’m going to develop breast cancer – here’s what I can do to stop it!  Plus, just because I have the gene doesn’t mean I’m guaranteed to develop the disease – it might happen tomorrow, in ten years, or never.  So would I really want to know?  And also, would you want to give someone the gift of knowing that they could develop some horrific disease at any time?

I’m not in any way trying to downplay the importance of 23andMe.  For one thing, the samples they get from their subscribers get incorporated into research on the human genome, so in some ways, you’re adding to the scientific endeavor of curing human ills if you pony up the $99 for this, in addition to getting some good info for yourself.  There are some practical applications to this, like knowing you are likely to respond to caffeine or, more importantly, certain prescription medications.  However, would I want this as an unsolicited gift?  Probably not.  Do I want to know myself about my chances for developing whatever disease?  Honestly?  I don’t really think so.  Unless this warning came with some sort of practical advice – my god, you’re going to get Mad Cow Disease unless you start eating an orange every day! – I just see this as something else to worry about pointlessly.  And I already have plenty of those things.

Whether you want to know or not, of course, chances are good personalized medicine will be part of your future, given the trends in research right now.  Remember, you heard it here first. 🙂

*By Spiffistan (Own work) [Public domain], via Wikimedia Commons

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