My First Genetic Test - Alex Larson

In a high school science club, I isolated my DNA from a saliva sample (or at least I believed I did; there was no confirmatory test done) and the concept of a genetic code firmly gripped my curiosity. How could an invisible molecule in a teensy, tiny tube dictate the construction and function of my body? And humans have the ability to read, predict, and manipulate this code? I was hooked.

Eight years later, I am thoroughly enjoying my first year of genetic counseling training and have a soft spot for a class titled “Genetic Techniques”. In this course, we are treated to lectures detailing different genetic testing methods and other molecular techniques and then get to try our hand at them in lab. Even with a background in bench research, I have learned a lot and gained immense respect for the lab technicians. The professors are thoughtful in explaining the reasoning behind each step in a protocol and are thankfully quite patient as our clumsy hands attempt to execute the experiment. While I likely will not do much pipetting after graduating, it has been incredibly valuable to gain insight into the strengths, weaknesses, and requirements of different genetic tests that I could order for a patient someday.

Additionally, and unexpectedly, the class has offered a glimpse of some psychosocial aspects of genetic testing. Spread across several labs, we isolated our DNA from blood samples, amplified a gene of interest with PCR, and confirmed successful PCR products (my high school self would have exploded with excitement). We sent our products out for Sanger sequencing and when our results returned, we combed through the reads for a single nucleotide change. In the gene ABCC11, we were looking for a variant that, when inherited from both parents, is seen in individuals with dry earwax and mildly smelly sweat as opposed to wet earwax and sweat with a typical odor. I was happy to find that not only was sequencing of my sample successful, but I have the genotype of a dry-earwaxed-and-mildly-smelly individual!

When viewing my sequencing results, I felt…excited? Proud? Why did I feel proud? I had not done anything to achieve this genotype and quite honestly, I still felt just as smelly as anyone else. I felt kind of awkward talking about my genotype with my classmates, as if it may make someone feel bad about not having the same discovery in their results. As I reflected on these silly thoughts about my single nucleotide changes, I recognized that this was my first genetic test. I had peered into my genes and, in a little way, pulled back the curtain between my lived experience and my biological blueprint. If such a goofy, insignificant test could provoke an emotional response in me, what psychosocial cartwheels await someone who has just received results of a disease-related genetic test?

While I previously understood that patient distress can be associated with genetic testing results disclosure, I had acquired a new appreciation for the weight of this information. Even when presented with biological "good news”, people may still wrestle with how to relate to their genetic make-up. As a high schooler I held deep respect for the genetic code, and my genetic counseling training has only reinforced the power of this information. I am grateful for opportunities provided by the program like “Genetic Techniques” to craft myself as a knowledgeable, thoughtful, and sincerely considerate provider.