Petar Todorov | Lab Notes
Genomics: a personal journey
Published: Tuesday, October 1, 2013
Updated: Tuesday, October 1, 2013 08:10
Most Tufts students have grown up with the buzz surrounding the meteoric rise of genomics. It is now part of our fabric as an institution: Our university president is a geneticist. The field has received significant hype in the last decade, as the U.S. government alone dropped nearly $3 billion reading the genetic code. Experts told us that by doing so, we could gain an insight into human disease, tailor drugs and treatments to an individual and diagnose ailments rapidly. How does our reality compare to this optimistic projection for the future?
Sequencing has provided scientists with a reference genome for comparisons among different individuals. It is now known that many different traits in genes are caused by a change in a single nucleotide, or single nucleotide polymorphisms (SNPs, pronounced “snips” for short). The discovery has allowed traits to be identified rapidly and cheaply via genotyping, which reads SNPs without having to go through an entire genome.
Back in August, I decided to test out this new technology and picked up a $100 kit from 23andme, a service that provides personal genotyping and analyzes our 23 chromosomes. I wanted to find out who I am on a genetic level. Within a week, a box with a plastic test tube arrived. The instructions implored me to produce what seemed to be a shot’s worth of saliva without eating or drinking anything in the preceding half hour. Challenge accepted. You know, for science. (This was a surprisingly difficult task.)
The next day, I mailed my DNA sample, and it was happily bouncing through the U.S. Postal Service on its way to 23andme’s California facility. Upon arrival, it would be run through an Illumina BeadChip (a technology which got its start in the lab of David Walt here at Tufts) to read through my SNPs and tell me my traits. Waiting gave me time to think about some of the social aspects of exploring my genome.
Perhaps the most immediate fear in terms of having your genome read and stored digitally is the threat of unauthorized access and adverse treatment after the fact. Fortunately, the U.S. Congress made genetic discrimination illegal when pertaining to employment or health insurance. I was somewhat relieved to find out that I wouldn’t be fired or uninsured as a result of carrying a genetic illness.
But a greater number of questions arose. What if I were to discover that I carry a deleterious mutation in a gene like BRCA1 that predisposes me to cancer? What would the impacts be on my mental health and lifestyle? Would knowing my odds of developing a disease lead me to get tested more often, and would the extra stress be justifiable? What if I were at risk for an incurable disease?
Shortly after my return to Tufts, 23andme emailed to let me know that my genetic report was ready. Thankfully, I found out that I do not have any genetic illnesses, but it wouldn’t hurt me to exercise more and cut some of the meat and cheese from my diet. Then, my ancestry results were analyzed. I found out that I am related to the Asian invaders who made frequent forays into Europe on my mother’s side of the family. On the other hand, my father’s fathers had spent most of their time in the Balkans. Most surprisingly, I discovered that I am 2.7 percent Neanderthal.
My verdict? All in all, 23andme provides a cool service that should satisfy one’s genetic curiosity. In due time, we may have widespread personalized medicine and genetic analysis for all, but we aren’t there yet.