Wednesday, March 29, 2023

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.

Wednesday, March 15, 2023

9 Things I Wish I Knew Going into GC Applications - Emily Hrach

The GC application process is a long and stressful one, and looking back there are a lot of things I wish I could’ve told myself now that I’ve been through it. Here are some of those things:

1. You do not have to be a GCA. When I was applying, I felt like everybody else was a GCA. Being a GCA is a great experience, but the vast majority of my classmates never worked as a GCA- it is not a requirement for graduate programs! These jobs are rare and competitive- I sent in dozens of GCA applications and never got an interview. I ended up getting creative with my gap-year jobs and these ended up being hugely rewarding experiences! If you’re like me and are getting rejection after rejection trying to find a GCA job, don’t sweat. There are a ton of other interesting, unique, and inspiring options out there.

2. You also do not have to work for Crisis Text Line. Crisis Text Line is great, but again, it is not the only option out there. If there is a specific cause or organization that you are passionate about, look into local or national organizations dedicated to the topic (I worked at a local center focused on youth housing and it was an incredible experience). Also, think about if you would prefer a text, phone, or in-person experience. Text is definitely the most convenient and accessible while phone/in-person experiences may help you get used to working with people in real time. I personally found in-person crisis management to be extremely challenging, but I learned a lot from the experience. Before setting your mind to one organization, think about what type of experience is right for you, your goals, and your schedule.

3. Check if the school wants your official or unofficial transcript!! I have a friend who forgot to check and spent a lot of money sending out her official transcripts when she didn’t have to. Don’t do that!!!

4. There is no common app. You probably already picked up on this if you’ve started applications, but if you haven’t, here is your warning: each application is separate, so be prepared to fill out a bunch of applications and ask your recommenders to submit letters to multiple different sites. This will take much longer than college applications, so be sure to plan your schedule accordingly (most of the people in my cohort started in late summer/early fall).

5. Don’t let your personal statement read like a robot wrote a resume, and give yourself lots of time to get it right. I’m speaking from personal experience here- my resume-esque first draft was boring, impersonal, and repetitive (they already had my CV!) Your personal statement is a chance to tell a story (not your whole life story, you only have a few hundred words), illuminate your personality, and show admissions directors why you are going to be an awesome GC. Writing an honest, impactful personal statement takes time, so make sure you give yourself plenty.

6. It’s okay to not be a genetics expert. This is what graduate school is for! It’s okay if you can’t name all the conditions on PA’s newborn screening panel or calculate residual risk after a negative CF carrier screening test. Some interviews have questions about cases, but the goal is for the interviewer to see how you think rather than test you. Don’t study for your interviews, but be prepared to think logically and articulate your thought process. Disclaimer: I obviously did not interview at every school, so I don’t know for a fact that this is true everywhere, but this was my experience and the experience of everyone I have talked to :)

7. Interviewers are really just people. Seriously. I actually had a lot of fun in my interviews. Don’t get me wrong- it was super nerve-racking, but I ended up having a lot of really informative and interesting conversations. Remember that you are talking to real people who do this job, at least in part, because they enjoy talking to students. You talk to people everyday, and interviewers are just more people to talk to. Take a deep breath, you can do it.

8. Have a couple really solid answers to common interview questions prepared- each school will ask different questions, and it’s going to be impossible to predict all of them. Some questions, however, are pretty standard (this is true for job interviews, too!) You’ll probably get questions like “tell me about yourself” and “why genetic counseling”. Take some time to think about these questions and find honest answers. If someone asks why you want to be a GC, you’ll probably want an answer that goes beyond just saying that you like science and helping people- dig deep and figure out why you really want to do GC. I’d recommend practicing your responses to these kinds of questions in advance (Katie Lee CGC on YouTube has some really good videos about this).

9. All the cheesy ones- don’t focus on what other people are doing, take care of your mental health, and remind yourself that this experience does not define you. Think of the things that have helped you get through stressful periods in the past and do those things again. Take deep breaths, prioritize your sleep, don’t be afraid to ask for help from your loved ones and/or a professional. Good luck, you’ve got this!