Feeling Comfortable In Your Genes

I don’t have a TV, so I tend to fill my time with news (the NY Times is my chosen source most of the time) and other things of interest like podcasts (if you’ve never heard of Radiolab, it’s worth checking out) and a group of YouTube videos from a series of conferences called TED.

In a nutshell, the TED conferences get the smartest minds in the world together in one place to hear experts in any number of fields talking about pretty much anything.  Below are two of my favorites: The professional opera singer with idiopathic pulmonary hypertension (a progressive disease where the lungs stiffen for unknown reasons) and the Harvard neuroanatomist who has a stroke and lives to tell about the experience.

TED Talk: After a Lung Transplant: An Aria

TED Talk: My Stroke of Insight

And while things like this may sound esoteric, the lectures – which usually average around 15 minutes in length – never fail to inspire me to think, question, and wonder.  And rightly so, considering that the mantra of the series is “Ideas worth spreading.”  Hence: today’s post.

Several weeks ago I watched a TED talk about the future of medicine, given by a well-establish physician from Boston.  This doctor had recently gotten his DNA analyzed by a company called 23andme (www.23andme.com), and was convinced that this new-found accessibility to our own specific make-up would fundamentally change the way we treat disease.  The fact is, the incredible advances in genetic technology over the past decades have made DNA analysis available at a price point low enough to be accessible to the average person, something which Watson and Crick could have only dreamed of when first pontificating about the nature of DNA.  If used properly, this technology can be a powerful tool, not only for medicine, but for getting to know ourselves more completely as humans.

I say that because not only did this analysis give the doctor details about predispositions for certain diseases, or other characteristics that are genetically linked; it also gave him detailed information about his ancestry, dating back eons, which helped connect him with others in the online community of people who had also used gotten their DNA analyzed, and who were genetically similar.

So, in a moment of complete geek nirvana, I looked into the site myself, and, given the endorsement in the TED talk, figured it was legit enough to warrant spending the $100 for the analysis. I had been sitting on some money I’d earned from a piano-playing gig for some time, and figured that this was as good a reason as any to spend it.

So I registered, and 2 days later received my sample collection kit in the mail – really no more than a specialized spit-collection tube with some liquid preservative – and donated a hefty sample of saliva (they do the DNA analysis on cells found in spit that have naturally sloughed off from your cheeks, so it’s completely painless).  I then shipped the kit back and waited the perfunctory 6 weeks for the results.

Earlier this week they finally came in.

Having what I’d say is a solid base of knowledge in genetics, I must say that the company does a very good job presenting the information on a number of different levels, so that it’s understandable to both the lay-person who barely knows what DNA is, and to a geneticist (or doctor-in-training) who can appreciate the details of the analytic techniques and scientific evidence behind the results.  That said, what I found was completely unexpected and fascinating.

To track maternal lineage (i.e. the ancestors from your mom, maternal grandmother, maternal great grandmother, etc) they use something called mitochondrial DNA, which is only inherited from the mother.  This is different from any other piece of DNA in your cells (located on your chromosomes), in which some comes from the mother, some from the father. That said, because this mitochondrial DNA comes only from the mother, it offers a way to continuously backtrack and look for differences in this type of DNA which suggest differences in origins.  For instance, certain patterns of mitochondrial DNA are seen almost exclusively in Sub-Saharan Africa, while others are prevalent in certain parts of Asia, the Americas, etc.  In essence, knowing your specific type of maternal/mitochondrial DNA means knowing genetically where your ancestors came from.

For me, this turned out to be a surprise.  Although I know the most recent generations of my mother’s family came from Europe (I had always been told Lithuania), the genetic analysis showed patterns associated with recent ties to the Middle East, most commonly seen in populations of Saudi’s, Yemeni’s, and  Ethiopian Jews.  This specific pattern is markedly rare in Europe, which I found odd until I came upon the caveat that this specific genetic marker is also found in a small number (about 3%) of Ashkenazi Jews, the ethnic branch of Judaism usually associated with the European continent.  I always knew that I was an Ashkenazi Jew, but always assumed that it was of some non-descript Eastern-European subset.  What this data suggests, though, is that my ancestors have the most recent ties to the Middle East out of the Ashkenazi ethnic group, and are genetically more closely related to the peoples of the Arabian peninsula than those of the European continent, something I found completely fascinating.  My vanity also make me wonder if that’s the reason I seldom get sunburns and tan easily… but then again, maybe I’m stretching.

You can read the full report and learn more about mitochondrial DNA here.

Regardless, this information gave me an interesting sense of self-awareness with regards to my cultural roots, as well as my place within the human species a whole.  Furthermore, stepping back and looking at the diagram geneticists use to map this type of information, the common ancestors and inter-linkage make me wonder why we are so quick to jump to divisive measures, when we are all so closely related.

Look for next week’s post on the medical aspects of the analysis, and in the mean time check out the TED videos linked above, and the full report on my maternal DNA pattern (haplotype).

 

**I have no financial ties or vested interest in 23andme, and did not receive any incentive for including their company in this post**

Picutre of author

About Justin Fiala, MD Candidate

Justin is currently in his third year of medical school at UIC's College of Medicine, and is hoping to pursue a career in internal medicine. He has a strong interest in addressing the health needs urban communities and is part of the College of Medicine's Urban Medicine program. Aside from academics, Justin enjoys cooking, listening to public radio, and perusing the New York Times website. He is also a trained pianist and self-professed lover of all kinds of music.

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