Personalized Genomics Does Not = Individual Genomics

These days there's a lot of buzz around "personalized genomics". Perhaps it's because I'm in the genetics field, but there isn't a day that goes by where I don't see an article, post, or ad that promises the hopes of how genomics or genetic testing can add value to your overall well being. As someone who started out in the field back when genetic testing, and genetic counseling for that matter, was infrequently talked about; these are indeed exciting times. We certainly have come a long way. But what's striking to me is that while I see an increase of media coverage about how genetic testing can impact individuals, I see less emphasis on the impact or importance of family health history.

To me, personalized genomics goes hand in hand with understanding not only an individuals specific genome, but also incorporating their family history. Clinically, we cannot operate in a vacuum- when assessing someone's personalized risk for genetic conditions, it's essential to consider more than the individual (if possible).

So you may ask yourself, "What's the big deal with fam history? If my genetic test says I'm at a low risk for heart disease, then I'm golden- bring on the burgers." And this is where I would say, "Not necessarily my friend". If for example you have a significant family history of heart disease, it's great that some genetic variants may have come back identifying you as "low risk", but that doesn't completely get you off the hook from being vigilant and informing your doctor of your family history of heart disease. You see, the test you had may have looked at some genetic risks for heart disease, but maybe not all. And maybe not specifically the genetic changes that are causing the heart disease in your family. The same goes for cancer risk. We can look specifically at your genome to assess your risk of certain cancers. If the test comes back that you didn't have the variants or changes in the gene that put you at a higher risk for cancer, that's great. BUT... it's not the whole piece of the puzzle if you have a specific family history of cancer. Perhaps the cancer occurring in your family is caused by another genetic change or variant that was NOT screened for on the test that you had. In this case, you're still at high risk and not really "off the hook" for screening. If on the other hand you know the exact genetic change/variant that caused the cancer in your family member and then you are screened for that very same variant and are negative or not found to have that change THEN you are off the hook and back to general population risk (notice how I didn't say 0 risk?!).

Ok, so I've probably convinced you by this point that we cannot ignore family history. But what if we just don't know it? The reality is that some families talk openly about health history, others don't and then there are people who just don't know much if anything about their biological family. Genetic testing can still be informative, but it may make assessing risk a bit more challenging.

My take home message and goal in writing this is to create more awareness about the nuances of personalized genomics and genetic testing. While the media may tout the promises of how genomics can revolutionize health- often we still need to bring it back to basics and ask the right questions to get the most meaning out of these results. The good news is, there is a whole profession dedicated to helping you make sense of this info and truly personalizing the results for you.