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Variant Interpretation and Report Writing šŸ“ | My genetic counseling career diary — come learn with me! 🧬 | Opinions are my own
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Heteroplasmy, the concept of disease-causing mitochondrial mutations accumulating in affected tissues, can complicate diagnosis… which is why the sample type particularly matters in these cases! Here’s a breakdown of why cheek swabs or blood samples may not always provide a true negative result, and why urine recently is being considered a leading sample (even over skeletal muscle biopsies!) 

#genechat #geneticcounselor #geneticcounseling #fyp #gc by @annlygc
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6 days ago
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It was a busy day yesterday & I forgot to post šŸ˜…

Have you ever met someone who responds differently when exposed to anesthesia? Did you know that sometimes extremely adverse reactions can be explained by mitochondrial variants? Read along to learn more about such a mitochondrial variant & what current recommendations are for it. 

#genechat #fyp #geneticcounselor #geneticcounseling #gc by @annlygc
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12 days ago
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*syndromes, systems! Can’t spell this week lol

I am starting a new series for as long as my return to this page lasts šŸ˜… Mito Mondays! And maybe Metabolic Mondays if we get far enough, since I’m a ✨subject matter expert✨ for both… 

Starting w/ mitochondrial deletion syndromes, because there was a week where I was asked about this on the job (patient w/ suspected Kearns-Sayre syndrome was negative for any deletions in blood, and we were asked about our confidence in this result). That week, I learned that while deletions causing Pearson syndrome is almost exclusively detected in blood, deletions causing Kearns-Sayre syndrome can be detected in blood but is more likely to be detected in muscle… and for CPEO, the deletions are usually confirmed to muscle. šŸ’Ŗ 

#genechat #gcchat #geneticcounselor #geneticcounseling #gc by @annlygc
3
20 days ago
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It’s application season again, and upon reflecting on my own time working on my essay and being on the other side of the process last cycle as an interviewer at my prior role, I thought to share some tips and guidance for how to go about writing your personal statement. I would argue that this is the most important aspect of your application; it’s your chance to stand out, tell your story, and make a strong first impression! Of course, everyone may go about it differently, but this is generally what my mentors advised me during my cycle & also what happened to impress me whenever I read an essay before interviewing a candidate. 

And because my job change had given me more freedom in time and mental capacity, I’m regaining my spark for this work again & currently available to help edit some essays! Please DM me the specific essay prompt and a deadline and I’ll try my best to help out :)

#geneticcounselingstudents #geneticcounseling #geneticcounselor #gcprobs #futuregc by @annlygc
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24 days ago
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A new condition I never knew about until this week! 🧬 

#geneticcounselingstudents #geneticcounseling #geneticcounselor #gcprobs #futuregc by @annlygc
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4 months ago
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We’re regular at posting again, for now.. šŸŒ

This week: reviewing variant interpretation. This is embarrassing to admit, but in grad school when we went over this, I thought we had to literally add up the different ACMG criteria (ex: PP1 + BP5 = a special number). In other words, I thought the numbering was meant for adding and not just to denote the specific criteria LOL, which are then added based on their strength to determine the overall variant classification (see page 3). Please learn from my mistakes! 

Also exciting to read that the ACMG is working to better quantify some of the more vague criteria! Makes me curious as to how other labs do it… 

I s2g, if you told grad school me I’d be trying this out, I wouldn’t believe you! 

#geneticcounselingstudents #geneticcounseling #geneticcounselor #futuregc #genechat by @annlygc
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5 months ago
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Having navigated the job hunt for the second time in 3 years in a TERRIBLE economy has taught me a lot — here are my reflections, so that YOU don’t have to learn the hard way! šŸ’Æ

Tl;dr: don’t be afraid to reach out to people, and advocate for yourself 🄰 also, for tips specific to interviewing, see one of my older posts!! 

Finally, be patient with yourself — it can take a few months! 

#geneticcounselingstudents #geneticcounseling #geneticcounselor #gcprobs #futuregc by @annlygc
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5 months ago
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Ironically bringing this series back exactly two years since my last Snapshot post šŸ˜… but what other way to bring it back on Mother’s Day, than to talk about the genes we only inherit from our mothers… mitochondrial DNA? 

In grad school, I thought I got the gist of mitochondrial genetics.. enough to pass boards at least, but didn’t think much else. I didn’t realize that because the DNA was circular, the numbering of each position ran all the way around (rather than starting over with each new gene). I also didn’t realize that unlike nuclear genetic conditions, where you typically attribute certain genes or chromosomes to certain conditions… mito conditions aren’t at all like that. We know certain variants cause mito conditions, but usually those variants fall under different genes, and those genes are also implicated in other mito conditions too. A lot more chaotic than I recall it! 

#geneticcounselingstudents #geneticcounseling #geneticcounselor #gcprobs #futuregc genetics genes futuregcstudent geneticcounselorproblems gcchat genechat gc fyp by @annlygc
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5 months ago
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A very late post, but I got to go to the Western Society of Pediatrics Research conference in Carmel, CA in Jan 2025 to present this poster based on two unrelated patients I saw within two weeks of each other with very similar duplications! All my Saturdays chugging away at this work was rewarding, and Carmel was beautiful šŸ˜

(I have consent for publication, but it just felt wrong to publish here for some reason. And many of you know/can figure out my work history, but I also prefer just not publishing that here either šŸ˜‚) by @annlygc
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5 months ago
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Long time no see šŸ‘€

I come bearing a new update… I’m going to the dark side. 🌚

While initially driven by some burnout and personal life matters (LDR, relocating to different city.. more on this later), this move was also inspired by my former role. VUSes that were suspicious fascinated me - how can I prove pathogenicity so that this diagnosis is the official answer aka we can start talking management and recurrence risk?? Doing literature reviews to deeply understand the genetic condition of interest and figure out how to answer these questions was very satisfying to me… and I became curious about a role where I could do more of that. 

The thing is, I honestly didn’t even like variant interpretation when I was in school!! — it was only after working directly with the community it impacts that I grew more interest in it. I’ll miss patient care… but I am excited to step out of my comfort zone and see how this new adventure goes. 

I’m also hoping that with this new role, I’ll have more time again to update you all more often again! Some ideas I have so far include reflecting on my last role, how the job search went for me (esp vs being a new grad), and what I learn in this new role!! Let me know what content you want to see and I will deliver :) by @annlygc
6
6 months ago
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ā€œDo you know you have 30 minutes? 30 minutes???ā€ ..Jk, but you still only have one week left! 🤣

@abgctestprep and @genesunravelled have banded together for this DEAL of a giveaway!! 

Premium access to our study tool?? A @dena.dna pencil case? And genetics-themed business cards by @genesunravelled?? 

Go to @genesunravelled’s post to find out how you could win all of these great prizes :) 

Giveaway ends 10/30 šŸ‘»

#geneticcounselingstudents #geneticcounseling #geneticcounselor #gcprobs #futuregc #genetics #genes #futuregcstudent #geneticcounselorproblems #gcchat #genechat #gc #fyp by @annlygc
0
2 years ago
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Hiya, long time no talk! 

As some of you may know, the ā€œsecret projectā€ I was working on was a new study tool for the boards!

ABGC Test Prep launched in August to help you with your board exam preparation experience. As a licensed genetic counselor who was a part of the first šŸ‘»horrendousšŸ‘» cycle of the new ABGC exam and survived to tell the tale, I understand firsthand the struggles of finding high-quality, organized study materials. That’s why I dedicated myself to creating ABGC Test Prep – a platform by GCs, for GCs ā€¼ļø

Our prep tool offers a free comprehensive assessment, a constantly-growing pool of exam focused questions and resources, and a group of genetic counselors on hand to rigorously review and update the content.

Please see my following post for an opportunity to win FREE access to our tool :) 

#geneticcounselingstudents #geneticcounseling #geneticcounselor #gcprobs #futuregc #genetics #genes #futuregcstudent #geneticcounselorproblems #gcchat #genechat #gc #fyp by @annlygc
0
2 years ago
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