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  • Melinda

23 and "Eff Me": A Rant About All This Darn Information


In the age of big data, what do we do with all of this information?


Raise your hand, sassy reader, if you have a cell phone with more than 100 pictures on it. If any of you have your hands down, get out of here because I don't allow liars to read my blog. Yeah, that's right, I can sass, too, just ask my mom. Crap, I'm already straying off topic. My apologies.


So, we've all got thousands of pictures on our cell phone. They're not even good ones, right? A picture of a receipt, 17 nearly identical pics of your cat yawning, an image showing your spot in the parking garage from 2 years ago (which, by the way is an amazing way to remember where you've parked but for God's sake, delete that after you find your car!). And do we ever actually print these out or use them? Usually no. Unless you're my sister in law. She deletes photos monthly and makes albums of the best images. But let's face it, no one has her energy. I tried to live like her for one day and I think I broke my patience cortex. (not a real thing, before I get emails).


Anyway, what the hell is my point? I forget. Oh yeah- too much data. Too much stuff. And what do we do with it? We let it sit there and overwhelm us. Which brings me nicely to my next point (it's almost as if I structured this beforehand): all the genetic information we have nowadays.


The complete sequence of the human genome was worked out in the early 2000's. After launching in 1990, the Human Genome Project was announced as complete April 14th, 2003. The day before tax day. I don't know why I mentioned that but for some reason, it seemed significant in my mind. Like, how good did we all feel on April 16th? "All the genes in my body are mapped out, I sent my taxes in- now I can really relax."


So what does mapping the genome mean? Over the course of 13 years, scientists identified nucleotide base pairs for the 20,000+ genes we have in our cells. Nucleotides are compounds that we refer to by one of four letters - A, C, T, and G - which combine to code for amino acids, the building blocks of proteins. But now that we know this extensive map of the human genome, what can we actually do with this information?


A colleague of mine recently received results from 23 and Me - a service that will magically transform a couple hundred dollars (and a sample of your saliva) into a report about whether you have a predisposition for certain genetically-linked traits or diseases. The question is - how helpful is this information? (Spoiler alert - I don't have an answer, I just like posing questions). I'm like a toddler that way. And in no other way. Except I don't like to share.


For certain diseases, there is a high correlation between genetics and incidence of the disease. For example, the BRCA genes. About 12% of women will develop breast cancer in their lifetimes. But carrying a mutation in either BRCA1 or BRCA2 significantly increases that risk (to approximately 50%). This is an example of when information is helpful. If you carry this mutation, you can choose to take preventative measures (removal of breast tissue) or at least be more vigilant (higher frequency breast examinations). Another example of helpful information would be learning of an increased risk for skin cancer. Finding this out, I'd be more likely to wear sunscreen religiously.


But what about diseases or conditions with less of a clear correlation? Even worse - what about diseases with no cure? Would you want to know? This becomes a philosophical debate.


The colleague I mentioned was given a report that she had two copies of an allele associated with increased risk for Alzheimer's disease (APOE-e4). Currently, there is no cure for Alzheimer's. And there aren't yet measures you can take to drastically reduce your risk. You can eat blueberries and salmon, do crossword puzzles, and exercise, but there is no equivalent of removing breast tissue from the brain. There's a joke in there somewhere but it's been a long week and I'm actually out of dad humor. I know. Don't worry, I'll be ok.


But back to the point. I promise there is one. If we get this type of information and can't make changes to alleviate the risks, could we actually be causing harm? There is a certain stress associated with knowledge like this. Each time my coworker forgets her keys, is she going to worry that it's an early onset of Alzheimer's? Yes, she will be in a position to approach her doctor at the earliest signs of possible cognitive decline, which could lead to better management of her care. So really, there are pros and cons. Ultimately, this is a matter of personal taste and choice.


I am not saying anything negative about 23 and Me or anyone who chooses genetic testing. But I do think it's worth thinking about in advance if you are considering a test like this. Personally, I am way too much of a wuss. I don't want to know what may cause my demise. I'll just pre-emptively eat blueberries and wear sunscreen. And I heard coffee cures cancer so I'll drink a lot of that, too. Any thoughts, readers?


XOXO

Your average neuroscientist,

Melinda


Further Reading:

The NIH page of FAQ about the Human Genome Project

23 and Me Website

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