Genetic Counseling
Collection
Models and datasets relevant to genetic counselors • 3 items • Updated
source stringclasses 2
values | author stringclasses 3
values | question stringlengths 250 2.86k |
|---|---|---|
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A woman who was evaluated and diagnosed with facioscapulohumeral (FSH) muscular dystrophy 10 years ago calls to request general information to share with her new husband and his family. The couple is considering starting a family in the near future. What is the counselor's BEST response to the woman's request? |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | During the pre-authorization process, the genetic counselor learns that the patient will have to pay for follow-up molecular testing out of pocket and can afford testing for only two genes. In addition to MLH1, which genes should be tested to identify the causative mutation? |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A 38-year-old woman is referred during her first trimester for genetic counseling. Her female partner accompanies her to this visit. The pregnancy was conceived using donor sperm. How is this reproductive scenario indicated when drawing the pedigree? |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A 15-year-old girl at 21 weeks gestation comes with her mother to the genetic counselor because the fetus has gastroschisis. The patient's mother insists that the birth defect is incompatible with life and that she should terminate the pregnancy, but the patient says she wants to keep the baby. However, the patient say... |
https://quizlet.com/96197393/abgc-practice-test-1-022015-flash-cards/ | sjblease | A 4-year-old boy is referred to a genetics clinic because he has calf hypertrophy and trouble rising from the floor when seated. His creatine kinase level is 10,000 U/L. Which of the following is the BEST initial method to determine his diagnosis?
A. dystrophin immunohistochemistry on muscle tissue
B. dystrophin deleti... |
Reddit | /r/genetics | Doctor refusing to refer to genetic counseling?
Hi! I have very little knowledge of genetics, I also have very little knowledge of my family medical history and found out that my mother lied about some surgeries and diagnoses that I got when I was younger. A good portion of this revolves around brain surgery, I also fo... |
Reddit | /r/genetics | Questions to ask when shadowing a genetic counselor?
I have a meeting scheduled with a GC in a couple weeks and I'm currently working on preparing some questions to discuss while I'm there. This will be my first time meeting with a GC and sitting in on a case, so I'm super excited! I already have some basic questions r... |
Reddit | /r/genetics | Found out I have a Fragile X intermediate zone mutation. We’ve spoken to 3 genetic counselors and 2 of them have made it sound like not a big deal while the 3rd made it seem like something we should definitely be cautious of when having children. We are thinking of pursuing the CGG/AGG testing but I wanted to see if I ... |
Reddit | /r/genetics | Thinking about having kids one day, but worried about Autism running in my family
I was born in Peru with my older brother from my mom (Peruvian) and my mom's ex-partner in Peru(Italian descent). When my mom and her family arrived in America, our family started having some problems.
My mom married my step-dad (American... |
Reddit | /r/genetics | I'm anxiously waiting for a call from the genetic counselor but our microarray tests were sent to me and said it was a female fetus. However, the doctor after our D&E procedure said he was a boy.
The microarray was normal otherwise. Our baby had multiple brain abnormalities including fluid in the brain, cyst and missin... |
Reddit | /r/genetics | My boyfriend and I are excited to plan a future together. We are both excited for a future that involves children.
My sister and my boyfriends brother (among other family members) have schizophrenia.
We would like to understand the likelihood that our children would have schizophrenia.
-What reliable resources exist th... |
Reddit | /r/genetics | Our first child on the way, we've been hit with XYY, now VUS.
This is our 4th and only successful pregnancy so far. My wife is 38 and I'm 36, we've been trying to have a baby for awhile and we've been unsuccessful until now. Our NIPT test came back with XYY syndrome. We followed up with a CVS w/ micro array and it came... |
Reddit | /r/genetics | Missing part of Chromosome 3 but no Physical/cognitive disability. How?
Hi! Yesterday I got the results from a karyotype test and it says 46,XX,del(3)(p25.3) my mum also got similar results 30 years ago (they tested her after she had her second miscarriage -I was borned before that- ). None of us have physical or cogni... |
Reddit | /r/genetics | I got my 23andme results back and plugged my raw data into Genetic Genie, and after hours upon hours of delving into genetics research, I'm still a little lost. I understand 23andme only does genotyping so I may not get a full, accurate picture.
I'm mainly interested in receiving help understanding my variant report as... |
Reddit | /r/genetics | Okay, so I am just going to throw everything out there since my nephew was just diagnosed with SMA type 2 and I’ve been researching genetic links to my daughter’s degenerative epileptic encephalitis (it’s been diagnosed as different conditions: ESES, childhood temporal lobe, Rolandic, spike and wave, there’s been a lot... |
Reddit | /r/genetics | Rare Mutation- CLCN6 - Other people impacted by this?
My son was recently diagnosed with a rare gene mutation- CLCN6, and I am looking to see if there are other people with this condition.
The genetic counselor explained that it has only recently been discovered and that the only literature available is 3-4 children wh... |
Reddit | /r/genetics | I am an SMA carrier and we just found out my husband has 3 SMA genes (while I have one making me a carrier). My husband is 34 and has no SMA symptoms.
We’re waiting to hear back from a genetic counselor. In the meantime, does anyone have any insights on what this combination could mean for our baby? |
Reddit | /r/genetics | My wife had an amnio done where the microarray revealed two microdeletions. One on an x link (which is not much of a concern), and the other on 16P11.2. (Very concerning).
There’s not terribly much information available on the internet about it (And none of it is good). We’ve just met with a genetic counselor which con... |
Reddit | /r/genetics | Hi everyone, im 32 years old and survived stage 1 colon cancer at 28 years old
so some week ago i did a genetic test for cancer predisposing syndrom ( invitae panel with more than 80 gene convered) and no mutation has been found
i d'ont have any family history of colon cancer ( my cousin,aunt, father mother , brother .... |
Reddit | /r/genetics | Hello, yesterday I saw a genetic counselor because my mother got breast cancer. Im a man but I don't really know a lot about the health of my family We scheduled an appointment to get tested for some mutation
The gene that afraid me the most is p53, a mutation in this gene usually mean that you ll spend your whole life... |
Reddit | /r/genetics | My mother in law was recently diagnosed with breast cancer and just texted us tonight and told us she is CHEK2 positive. She told us that my husband has a 50% chance of having it, and if he does our children have a 50% chance of also having it. We’ve been stress googling tonight and learning a little about it, and are ... |
Reddit | /r/genetics | Took a genetics test for the presence of breast and ovarian cancers since my mom died at an early age of breast cancer. Only thing that was found was "Variation of uncertain significance identified: BRIP1" Genetics counselor said it's probably nothing to worry about but it occurred to me after our call, that I don't ev... |
Reddit | /r/genetics | My wife and I have 11 month old fraternal twin boys. Twin A has had a host of health issues, and after genetic testing, were told he has a partial duplication of 4q - base pairs 31.3 to 35.2. We're going to see a genetic counselor, and me, my wife, and Twin B are going to be tested.
The only useful information I could ... |
Reddit | /r/genetics | Looking for genetic advice. I’ve seen genetic counselors in the past, but I would like more opinions. My husband and I have two beautiful girls. Our first is fine. Our second was noted to be perfectly healthy at birth- 8 & 9 APGAR. After discharge from the hospital, she was not eating. She was then admitted to the hosp... |
Reddit | /r/genetics | The following panels were recently performed on my pubescent daughter:
https://providers.genedx.com/tests/detail/autism-id-panel-1007
Overall interpretation: “Whole genome chromosomal microarray: “Negative. Whole genome chromosomal microarray analysis did not identify any copy number changes of known clinical significa... |
Reddit | /r/genetics | My amnio results came back with a 3.92 MB Interstitial deletion at 1p22.1->p21.3 and I am terrified my baby will have an intellectual disability. The genetic counselor is not sure how the baby will be affected as the deletion does NOT include MIR137. There have only been I think 12 reported cases of people missing 1p22... |
Reddit | /r/genetics | I am an adult female with VACTERL Association, and I'm looking to begin trying to have children in the near future. I honestly never really considered whether VACTERL was heredity, my parents always explained it as a "bad spin of the genetic wheel".
So I ask - any insight if VACTERL is hereditary? There are no other in... |
Reddit | /r/genetics | Hi! I'm a high school student trying to figure out what they want to do. I have a few questions about becoming a Genetic Counselor:
1. What should my major be in college?
2. What is sort of a daily routine of a Genetic Counselor? What is the work environment like?
3. Is there any class I should be taking in high school... |
Reddit | /r/genetics | How much did IVF influence my child's genetics?
I am a carrier for retinitis pigmentosa, an x linked condition that affects my brothers. My mom gave all three of us her faulty X. I did IVF with genetic testing and have a beautiful daughter that is not a carrier (and not affected since she is female.)
Is she more likely... |
Reddit | /r/genetics | For those who had genetic testing done when the results were ready did you have to have a call with the genetic counselor or did you receive the results a different way? I’m scared that they said I have to have a call with them that my test results are positive. Any of you have a call with a genetic counselor and have ... |
Reddit | /r/genetics | I'm trying to learn more about genetics, specifically genetic testing as my geneticist is encouraging me to sequence my dnd in hope to identify/rule out any connective tissue diseases known to cause aneurysms. He's quoted me the lab fees of approx. $1055usd for full exome sequencing vs $3724usd for full genome sequenci... |
Reddit | /r/genetics | Promethease says I carry a variant for Fanconi anemia, but I am confused. I’m 5’6.6”, 175 lbs, no developmental issues, no physical or mental abnormalities—just a birthmark on my nose shaped like an L. I read that FA usually comes with short stature, bone defects, and a bunch of other problems I don’t have. What next s... |
Reddit | /r/genetics | DNA tests show I have homozygous gene for something that I wouldn’t have lived past 10
Hi everyone my doctor use my raw genetic code from 23 and me and uploaded it a website to do some evaluations for mutations and rare mutations and apparently I have the homozygous gene for something called Mucopolysaccharidoses (MPS ... |
Reddit | /r/genetics | I had a genetic panel done in August of this year through Natera using my spit. My results said I’m positive for “multiple variants in the gene associated with congenital adrenal hyperplasia, 21-hydroxylase deficiency…The c.844G>T (p.V282L) variant has been reported in a homozygous state or in conjunction with another ... |
Reddit | /r/genetics | If the results of a MTHFR test hold no significance, why are doctors still ordering it?
I’m just curious as to why a doctor would order this test for a patient when the consensus is that it holds no relevance whatsoever unless maybe you are pregnant (but even then it can be avoided by taking a prenatal vitamin)? |
Reddit | /r/genetics | I recently found out that I have the ENG gene that causes HHT. I am very stressed out thinking that I have a 50% chance of passing this on to my children.
I know about the IVF + PGT option. But it is very expensive and in my country it is not that easy to access. Also, genetic counselors are not a thing here either. I ... |
Reddit | /r/genetics | I am a mom to a 4 year old diagnosed with Autism. This past year, I had WGS done on both of us. Turns out that we have the same ultra rare mutation had has been identified as causing his delays.
My question is, if I have the same mutation, why didn’t I present with the same developmental delays? |
Reddit | /r/genetics | If you have the bad MTHFR mutation you’re supposed to take methylfolate- but if you’re pregnant, how much should you be taking?
Why doesn’t my obgyn know the answer to this? Idk. 🤷🏼♀️ can someone who understands genes help me out? I feel absolutely brain dead and overwhelmed all the time. |
Reddit | /r/genetics | My partner and I both have II genotypes (homozygous insertion) at rs797044837 in the DVL1 gene, based on AncestryDNA raw data. This variant is listed in ClinVar as a pathogenic frameshift mutation associated with Autosomal Dominant Robinow Syndrome Type 2.
Neither of us has any symptoms or features associated with the ... |
Reddit | /r/genetics | Am I guaranteed to pass on my genetic condition to my daughters?
I (male since it's actually relevant) don't understand how chromosomes or genetics work, please help! I have dentinogenisis imperfecta, a dominant trait genetic dental condition. I got it from my mom. I know my mom also gave me my x chromosome -- does thi... |
Reddit | /r/genetics | I am not seeking medical advice I just have a question on how the statistics work. I got NIPT testing done and i came back as a carrier for SMA. Here’s where I’m confused, the paper says before the testing the odds of the baby having it were 1 in 188-288 after the testing the odds are 1 in 2600. How does that work? It ... |
Reddit | /r/genetics | My husband and I did our carrier screening and it came back positive for dihydropyrimidine dehydrogenase deficiency (DPYD Deficiency).
We both are silent carriers of it, since we both carry it there is a 1 in 4 chances the baby will have it. If baby does have it just means he can’t take this one specific chemo drug but... |
Reddit | /r/GeneticCounseling | I had a WES panel done with Prevention genetics due to a high NT in my baby at 13 weeks pregnant. My doctor told me they ran only primary findings and issues associated with high NT. I’m not sure what that means or what the WES would cover then than the karyotype and microarray didn’t. Does anybody know? If you’ve had ... |
Reddit | /r/genetics | My husband and I are waiting for results of our genetic testing. My husbands brother is a carrier of a cystic fibrosis gene. We are operating under the assumption he may have the gene as well.
We have dna reports from both of my parents. My dad's report was flagged by genetic genie for the following gene:
variant:c.389... |
A collection of open-ended questions about genetic counseling, curated from:
- relevant subreddits
- flashcards for the ABGC Certification Examination
Also see the genetic-counselor-multiple-choice evaluation set.
A genetic counselor must be prepared to answer questions about inheritance of traits, medical statistics, testing, empathetic and ethical conversations with patients, and observing symptoms.
For evaluation only
The goal of this dataset is to evaluate LLMs and other AI agents on genetic counseling topics.
It does not include answers, so it is insufficient for training or finetuning an expert system.
Author cannot verify the accuracy, completeness, or relevance of the content.
Patients need personalized, expert advice beyond what can be returned by an AI.
Contributing
This repo could use a lot more questions, and I'm open to pull requests / collaborations. Please don't submit one question at a time! If you find one question, look for others from the same source / on a similar topic. To avoid questions which are too open-ended or confusing, I found it helpful to look for questions where users recommended or asked about going to a genetic counselor.
Source information
Source 1
A few questions with unusual formats or no answer key are repeated here.
Source 4
Curated real-world questions from Reddit.com/r/genetics (starting with 30 questions).
- Downloads last month
- 17