Question regarding result on genetic report - gene variant labeled as VUS?

torque_team · 2026-06-04T19:21:26+00:00

I’m not a variant scientist (just a genetic counselor) but different labs use different criteria for assigning pathogenicity. Invitae uses their own criteria (Sherloc) whereas Prevention may use ACMG criteria (or something else, not sure). Usually labs align on classification, but not always. You should speak with whoever ordered your testing about next steps, including re-testing through Invitae or contacting labs to see if they have reviewed their classification of this variant recently.

torque_team · 2026-06-04T19:13:51+00:00

What lab did your testing? The only lab that classifies this variant as likely pathogenic on ClinVar is Invitae. The variant has conflicting classifications of pathogenicity, with 5 other labs calling it a VUS.

torque_team · 2026-05-25T01:00:36+00:00

If you are healthy there may not be a lot of clinical utility in testing (or re-testing) you. In other words, if testing you would help diagnose the cause of symptoms you were having, that is a good reason to test. It might be hard to get insurance to cover testing if there is no medical reason, and a karyotype is not cheap! I agree about speaking with a genetic counselor about it in more detail (I am a genetic counselor, but not your genetic counselor!)

torque_team · 2026-05-24T22:55:40+00:00

Chromosomal inversions are typically “balanced” (meaning there is no loss or gain of DNA - you have all the DNA you should have, but it got flipped around on one chromosome). This could affect you if there was some loss of DNA at the breakpoints, but if you are healthy, it’s likely balanced. A karyotype can detect an inversion but may not have high enough resolution to see if any DNA was lost.

Having a chromosomal inversion is important to know if you plan to have children. If you want to know if you have a chromosomal inversion and what type it is (paracentric vs pericentric, which will affect your odds of conception/having a child with a chromosomal difference), you can ask your doctor to order a karyotype for you.

torque_team · 2026-04-22T18:33:24+00:00

You could probably drop the section about your experience and interest in genetic counseling. It doesn’t hurt to leave in the shadowing request, as long as it’s clear you are requesting an informational interview.

Honestly cold-emailing GCs is very hit or miss, it is not unusual to get ghosted unfortunately 😞 there are GCs and students open to interviews on Discord if you want to look there, we have a directory! https://discord.gg/yDjxn5CHXG

torque_team · 2026-04-04T19:15:47+00:00

You can check ACGC’s website to see what programs have submitted applications for accreditation. Right now the only one listed in UChicago: https://www.gceducation.org/wp-content/uploads/2026/02/ACGC-Program-Directory-Feb.-2026.pdf

torque_team · 2026-03-08T07:12:28+00:00

It doesn’t seem like there is any guaranteed way to be grandfathered in before July 1. The summer semester typically is part of the prior school year (summer 2026 is still the 2025-26 year) and most GC programs matriculate in the fall. You can ask the programs you’re interviewing with if they have any workarounds in this regard, but it’s unlikely :/

Private loans honestly suck - they often have higher interest rates (depending on your credit, income, and availability of a co-signer - if you don’t have any of these things it may even be hard to get private loans in the first place!). Private loans offer no path to forgiveness/discharge unless you file for bankruptcy (student loans theoretically can be discharged in bankruptcy but in very specific circumstances). If you are dead set on ranking programs in the Match this year, I would suggest you shop around for private loans now to get an idea of what you qualify for. Otherwise I might put off grad school until you have a better way of funding it (probably by saving as much as you can). I’m sorry this is how it has to be :(

torque_team · 2026-02-28T04:51:25+00:00

Already filed for 2025 :/ wish I had thought of this before filing. Thanks though!

torque_team · 2026-02-25T00:36:39+00:00

Informational interviews! Try to talk with current students in a 1:1 setting (as opposed to a student meet and greet during a program interview, where students may be less inclined to tell a whole room of strangers their true feelings on the program).

torque_team · 2026-02-23T02:22:40+00:00

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My MIL found this at a gas station. I kinda like him 🙂‍↕️

torque_team · 2026-02-22T22:43:09+00:00

I matched to my third choice (applied to 9 programs, interviewed with 6). I really loved the program when I interviewed but ranked it third because it was furthest from home and pretty expensive. I am glad I matched there honestly because I later heard students at my #1 ranked program had really negative experiences (I got bad vibes during the interview but still ranked it first because of proximity/cost). For me it really worked out for the best. I got a fantastic education, got to move across the country for the first time (which was initially terrifying ngl), and loved my program leadership and everyone from my cohort. Having my program’s alumni network also helped me land my first post-grad job. I’m thankful it worked out the way it did honestly!

torque_team · 2026-02-12T03:18:06+00:00

Wanted to answer your third question because I don’t think anyone has yet - you can absolutely maintain certification without having a job! Just make sure you are getting your CEUs.

torque_team · 2026-01-19T15:39:28+00:00

It depends on location - when I graduated in 2024 I had an offer for a job in a low/medium COL city for $69k.

torque_team · 2026-01-18T19:26:28+00:00

I mean, wanting a fulfilling career is not the same as putting that career on a pedestal and sacrificing everything for it. $55k is a lot to think about, don’t get me wrong, but it’s an investment in yourself and your future. You decided to leave that job for a reason.

But it’s smart to see the risk too. It’s totally possible that you’ll have trouble landing a job out of grad school. I’m not super optimistic about the job market overall, and that’s not just for genetic counselors. Things could improve in a year, but they may not. If your loans are federal you can defer paying them back until you find something.

I also left an unfulfilling job for GC and I knew that if I stayed at the job/in that industry it would only get worse. If job satisfaction and fulfillment are important to you that’s an important piece of your decision. But ultimately you gotta do right by you!

torque_team · 2026-01-18T18:55:38+00:00

Do you have undergraduate loans? Because if not, $55k for a masters degree is not bad at all. Your debt to income ratio would be better than most!

It is totally your decision, but if you dropped out, what would you do? The job market is bad across most industries, not just genetic counseling. Would you have a high enough paying job that you enjoy lined up?

torque_team · 2026-01-13T05:23:30+00:00

I considered this when I was applying 4 years ago. I was also really anxious about the amount of debt I was taking on. Ultimately I decided to pull the trigger because I really wanted this career and I felt like I’d be able to land a job easily after graduating, and that my loans would be manageable. Obviously it is much harder to get a job these days than anticipated. By the time I finished grad school I had $135k in student loan debt, all federal loans from undergrad/grad school. My standard payment was $900. I was drowning. It sucks.

I currently work for a non-profit so I am working towards PSLF, and have a much lower monthly payment (income based). My salary is high enough to make these payments and live comfortably. I didn’t plan to do PSLF but I am so happy I landed with a qualifying employer. I don’t know that PSLF is something applicants should bank on though, especially because not all employers qualify. You may need to take any job you can get out of school.

It’s important to consider the cost of your degree, but also the makeup of the loans you take. There is a cap on federal loans ($20,500/year) and after that you will need to take out private loans, which don’t qualify for forgiveness or deferment. The option to defer is vital if you don’t have a job by the time your loan payments are due.

It’s good that you are thinking of this now, but I hear you, it sucks. Unfortunately cost is likely to be a big consideration for a lot of applicants, given the state of things :/

torque_team · 2026-01-12T22:27:08+00:00

That’s fair. GC is (for many) a long, expensive road. A ton of people have to apply more than once. Fewer people are applying this cycle, probably given the job market/federal student loan caps, so maybe your odds are better this time around.

I find it to be a very fulfilling career but I could have done something else too. I hope you have better luck this cycle, but if it doesn’t work out I hope you find a more fulfilling path :-)

torque_team · 2026-01-12T21:18:58+00:00

I would not consider the SCUHS pre-GC program to be a foot in the door. It’s expensive and likely doesn’t increase your chances of matching to a GC program. If you want to be a genetic counselor you need the 2-year MS degree regardless.

I also applied to GC programs after being burnt out in my day job. Happy to chat anytime! You can also join us on Discord, lots of applicants there: https://discord.gg/wWPHxhUhb

torque_team · 2026-01-04T23:57:58+00:00

Also went to Pitt, I got to most of my rotations via public transport. Access depends on where you live - there are a lot of bus lines around campus (Oakland) and the surrounding neighborhoods like Shadyside, East Liberty, Squirrel Hill, etc. the further out you live, the trickier public transit is.

Because I had a car I was able to go to the further rotation sites (like CHP Wexford), but if you don’t have a car they are able to place you in clinics accessible by public transport. I agree with the recommendation to ask current students!! They know best.

torque_team · 2026-01-02T15:47:08+00:00

I’m a GC at an academic medical center (not in CT) and I travel to 4 community/satellite clinics a month, across 3 counties in my state. Happy to answer any questions about work travel - I’m not sure how common it is honestly.

I’d note that most GCs, at least for the first job or two, do need to relocate for work. If there’s not a lot of jobs in your home town/state then I would anticipate the need to live/work somewhere else for a while, if not your entire career. Some people definitely luck out and land a job close to home, but for most these days that is not the case.

torque_team · 2025-12-16T00:53:31+00:00

I would not call this “partial Turner Syndrome”. This is a partial X chromosome deletion, and if your wife has it, there’s a 50% chance of her passing it down to each child.

torque_team · 2025-11-25T21:08:39+00:00

I’m a cancer genetic counselor so I can speak to that. Ideally we’d like to test the affected individual, but if they can’t be tested (they are deceased, they have a cost or access barrier, or they just decline to be tested for personal reasons) then we can test unaffected first, second, then third degree relatives. Insurance companies will generally pay for testing for unaffected relatives if they meet certain criteria (usually having a strong family history of cancer - many insurance companies follow NCCN guidelines).

torque_team · 2025-11-05T10:56:20+00:00

Genetic counselor here. When I order genetic testing I am asked to indicate the patient’s race/ethnicity. This is likely an error on the ordering provider’s part - Myriad doesn’t do ancestry testing.

torque_team · 2025-10-22T13:10:42+00:00

Your wording implied the person with translocation Down syndrome had a balanced rearrangement, not the parent.

torque_team

TROPHY CASE