A Personal Genomics Journey

Genomics researcher Elena Flowers has her blood drawn as part of her hands-on approach to understanding the implications of genomics profiling. Photo by Elisabeth Fall.

Note: Elena Flowers, PhD, RN, received support for her research through CTSI's KL2 Scholars program

While on vacation in Chicago, I was walking down the street with my mom and sister-in-law and skimming my work emails when I saw one informing me that my Chancellor’s Faculty Development Fund application to have my genome sequenced had been approved. It stopped me in my tracks.

My reaction was complicated. For one, I didn’t expect it; I had assumed that since I’d been funded last year, this year would be someone else’s turn. I also wasn’t entirely sure what I was getting into. I am a genomics researcher charged with teaching the topic to advanced practice nursing students; and early in 2016, on a whim, I mentioned to my lab colleagues that I thought having my genome sequenced might make an interesting project for the Development Fund, and they loved the idea. With less than 24 hours to consider what this might mean for me and my family, the next day I submitted an application. Now I worried that some might consider the project a selfish endeavor – and, more important, I worried about what it would mean to actually have my genome sequenced.

My mom, who had already done some genetic testing through 23andMe, asked, “What is it?” I explained I would be doing something similar to 23andMe, except that her results were like excerpts from a text, whereas I would be receiving every single letter of every word – and all the punctuation – in a language I don’t speak. I knew all too well that I was opening a Pandora’s box, with lasting implications, both personal and professional. Suddenly, while walking down that street with my mother and sister-in-law, I understood that a whim had become reality.

Complex Questions

One of the most astonishing implications of advances in genomic sequencing is that soon – very soon – such information will be widely available. In 2001, when a working draft of the Human Genome Project was completed, the process of sequencing that first genome was incredibly expensive. Since then, technology advances have ratcheted down the costs at an unprecedented rate, so that today, we have just about reached the $1,000 genome. That’s considerably less than many standard diagnostic tests.

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