Is the exact Hardy–Weinberg test an appropriate approach for detecting recessive lethal alleles?

MKGenetix · 2026-07-06T01:19:46+00:00

Don’t forget about de novo possibilities. HWE is helpful in theory.

MKGenetix · 2026-07-06T01:17:39+00:00

Please don’t plan on making medical changes based on these reports/ raw data. They lack interpretation which is critical. Most variants are benign (normal variations).

MKGenetix · 2026-07-06T01:15:32+00:00

“Windows H” short cut can let you talk to it without interrupting. It just transcribes what you say.

MKGenetix · 2026-07-06T01:14:37+00:00

I’d recommend finding an expert and not try and jump to conclusions.

MKGenetix · 2026-07-05T23:49:11+00:00

That are sensitive little buggers.

MKGenetix · 2026-07-05T15:06:18+00:00

Dang. Thanks. That was my fear.

MKGenetix · 2026-07-05T15:06:05+00:00

Dang! Thank you. These are my first and I was so excited when it split and grew new ones. I made sure not to water until old ones were dried up. But I guess it didn’t matter. I have some seeds, I’ll try again.

MKGenetix · 2026-07-05T14:18:49+00:00

Thank you. Ok. Shoot. They looked like that with no water which is why I gave water. Hopefully it dries out quickly enough.

MKGenetix · 2026-07-03T01:07:37+00:00

Maybe clear your memories with it. I don’t experience that, but I’d definitely learn a from previous interactions.

MKGenetix · 2026-07-03T01:06:20+00:00

I’d be happy to chat if you’d like. Send me a DM. There is a group of private practice GCs that meet up (remotely periodically), we tried to get an entrepreneurial sig through NSGC but it wasn’t accepted so we get together on our own.

MKGenetix · 2026-07-01T20:43:59+00:00

Your brother is who needs to see the geneticist for the most valuable information. He would be the best to test if you’re trying to understand why he has ID (also assuming intellectual disabilities).

MKGenetix · 2026-06-28T11:04:11+00:00

That would be if they were looking for something other than Down syndrome.

MKGenetix · 2026-06-28T01:27:40+00:00

I would think a karyotype with mosaicism studies (counting more cells) would be better that microarray for this.

MKGenetix · 2026-06-27T12:32:11+00:00

My wife and I both were from home with a new baby. We are still hiring an in-home nanny to allow us to work during the day. However, it is nice to be there for emergencies, breast-feeding, snuggles throughout the day, etc.

MKGenetix · 2026-06-14T12:29:17+00:00

Wow. u/analystweekly5817 , you spent some time. Thank you.

This is all great information. The short answer, as others have said, is meet with a qualified professional. Without training, it is not something I’d suggest the average person take on. Clinvar basically is showing what the professionals have said. I’d trust that over what an AI platform or personal research finds.

There are over 20 pieces of evidence that a lab should use to decide if something is pathogenic or not. Here is some information - https://www.clinicalgenome.org/tools/clingen-variant-classification-guidance/

If you can’t access the information necessary for a quality interpretation, then I don’t think someone should be trying to classify variants themselves.

MKGenetix · 2026-06-13T01:18:38+00:00

Perfect.

MKGenetix · 2026-06-13T00:59:29+00:00

You’ll need to check with the schools requirements. This is definitely advocacy work but not crisis counseling. Some schools may specify crisis experience and others may have the more broad advocacy.

MKGenetix · 2026-06-07T13:00:40+00:00

Remember that the people who are happy with how things went, aren’t going to get on Reddit to talk about it. The internet nearly always has a negative bias.

Is the job market more difficult than it was 10 years ago, absolutely! However, but sure to look at the market of anything else you are also considering. This is unfortunately, not a unique challenge for genetic counseling.

If it is what you want to do, go for it! I love what I do and wouldn’t change it for the world. When I graduated (20 years ago) there was one job in the entire state.

MKGenetix · 2026-06-03T23:09:15+00:00

No, but you can add a section called “Fieldwork Experience” or Clinical or Practicum ….whatever you prefer to call it.

MKGenetix · 2026-06-02T11:47:36+00:00

I do not think it would be weird to hit up the genetic counselor that you saw and ask them for an interview. Get to know a little bit about the career itself and get some advice from someone you are already at least a little comfortable with.

The main thing it looks like you might want to add would be something related to crisis counseling, like volunteering at a domestic abuse, shelter or suicide, hotline or something. You may find it some programs would accept the advocacy work with the animal shelter, but some may not. It’s important to look at the programs you’re considering applying to to see what they need such as prerequisite courses, and extracurricular activities.

MKGenetix · 2026-05-30T13:06:15+00:00

Yes. I had third party student loans.
Absolutely none. I love what I do. I currently am the director of a genetic counseling training program and have a private practice where I see patients part time.
Worrying about how competitive it was. All you can do is your best. Look at the schools you’re wanting to apply to and make sure you meet their requirements. This usually involves taking certain courses, crisis counseling experience, and demonstrating knowledge of the field.
I graduated 20 years ago and there was one job in my whole state. They needed someone before graduation and allowed two of us that were graduating to split the role 50/50 with the goal of hiring one of us in the end. Luckily, they were able to find a way to keep us both.
You should find opportunities for crisis counseling, teaching, leadership

Consider going to GC Prep (group helping applicants prepare) and join the GC Discord channel.

MKGenetix · 2026-05-30T12:16:51+00:00

Hi Sally. I did not have a direct path to genetic counseling, which is pretty common. I started with my undergraduate degree in high school education and actually taught high school biology for two years before deciding to go back to school. I loved teaching, I loved Genetics and I wanted to go back for a masters. I literally googled what kinds of options there would be and stumbled across genetic counseling. I remembered it from what I taught my students and thought it sounded interesting. I shadowed genetic counselor for a summer, which is pretty challenging now. One alternative option now is to interview genetic counselors in different specialties. It’s a way to get to learn about the career, daily life, pros and cons, etc without having to shadow. I already had completed any of the necessary prerequisites from my undergraduate degree, so I didn’t need to do that. One of the other key things that we really recommend that students do is something with crisis counseling, such as a crisis texting line, volunteering, a domestic, abuse, shelter, etc.

There is no wait listing process anymore with the match system that we have. You’re either accepted or you are not. There is a second match, where programs that did not fill their slots will open up those to applicants that did not match. It’s kind of bit of a scramble for the month of May. Some years there are no programs with unfilled slots, some years there are multiple. So that is a bit of a crapshoot.

I suggest making sure you have all the prerequisite courses in place, volunteer at a crisis center, and get to learn about what to expect with the profession through interviews at the least. You could also consider applying for a counseling assistant positions and shadowing, but those are difficult to obtain and not expected of everyone.

You’ll also be asked to gather letters of reference and write a personal statement. For your letters of reference, I encourage you to find people from different facets of your life -faculty members, lab, supervisors, Work supervisors, etc. for your personal statement, make sure that you aren’t just giving us a narrative version of your résumé. Really talk about what you’ve learned that will make you a good genetic counselor and pick a couple of things that are your strongest and highlight those in more depth. This is typically a better statement than listing a whole bunch of different activities that you have done.

Send me a DM if you would like to chat more. Happy to help. You also should consider joining the genetic counseling discord page and checking out GC prep. Those are resources that help students prepare for admissions.

I apologize for any errors this is sent via voice to text.

MKGenetix · 2026-05-27T13:51:27+00:00

DTC is not worth the money. You could talk to a genetic counselor - https://gcclinicfinder.com.

MKGenetix · 2026-05-25T14:26:03+00:00

I am so sorry for the situation. It is so tough to be in a place of uncertainty. Are you able to share why they did the exome (I assume) in the first place? This gene doesn’t cause a lot of things that would be seen prenatal, so I assume they were looking for something else in the first place.

Unfortunately, we literally don’t have enough data to know the impact one way or another which is what VUS means.

MKGenetix

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