We've got the code, but what does it mean?

If everything you know about DNA came from CSI, there might be a few gaps in your knowledge. It’s not that I dislike these shows, but laboratory scientists everywhere roll their eyes when there is a 100% DNA match…in 5 minutes! (Besides the fact that the scientists in these shows are often depicted as geeks with no social skills, but more on that pet peeve in another post.) It turns out DNA is useful for more than catching bad guys.

First of all, DNA is really cool! (Okay, so I am a geek, but I have social skills!) I’ve always heard the structure of DNA called “elegant, “and I think that really is the best description. There is so much information encoded by only 4 letters put together in certain sequences that ultimately form a message to mean something.

I find it fascinating that more than 99% of DNA is identical among humans. The remaining variable sequences are what make up the differences in each of us, such as the risk of developing a disease or how we’ll react to a medication.
The complete set of DNA in a person is called the genome. The government undertook an amazing project, called the Human Genome Project, to try to understand that DNA. They sequenced the complete human genome, or identified the order of the four bases that make up DNA—A, T, C, and G—in 2003. Now, the really important work is being done. Researchers everywhere are working to understand what that sequence means for human health.

For instance, we now know that a mistake, or mutation, in the sequence of a particular gene called BRCA1 is a sign for increased risk of developing breast cancer. The mistakes can be identified by genetic testing. Knowing that there is a mutation, and which mutation is present, can help the doctor and the patient decide what treatment or preventive measures to pursue.

So, what else can DNA tell us? Scientists are hard at work identifying other mutations that are markers for disease risk and also developing drugs that target these specific mutations. It’s incredibly important for private companies and public research systems to work together to simultaneously develop the diagnostic tests that will be able to identify the mutations as well as the drugs to target them. This type of collaboration will allow sharing of knowledge and money, which is necessary for projects like these.

There’s some great news that will help us utilize the information encoded in DNA. Congress acted proactively to pass the Genetic Information Nondiscrimination Act of 2008 (GINA). This ensures that employers and health insurance companies cannot fire you or deny insurance coverage based on your genetic information. It also means that more people will be able to know if they have a particular mutation and get the treatment that will work best for them.

There is so much information kept in our genome, and we’re now decoding the message and learning what it means. Now isn’t that cool?!