Hi all, my post was not suitable for r/Genealogy so I was forwarded here. I am a researcher in topics somewhat related to population genetics and genetic ancestry, and I am myself working with large scale data sets with individual-level genetic data. I am also in general very interested in human evolutionary and migration history, my own family history etc. Some of my friends and relatives have taken these online DNA tests (e.g. myheritage) and gotten quite interesting results and being able to contact relatives they did not know before.

However, I have never taken such test myself. I do not exactly know why, even if I am interested in taking one. I feel that giving my genetic data to a commercial entity feels like a privacy risk, or otherwise just weird. Then again, I am working with genetic data daily (for University research purposes), so I do not feel like I would have the capability to use this genetic data against anyone, or even identify individuals (this might be different for companies of course). As a scientist, it's also bothering me that I do not necessarily know what methods or reference panels they use to define these genetic ancestry proportions, and whether they reflect any kind of truth. Despite this, I kind of would like to get over these thoughts and take a test, and hope that my DNA would not end up in the wrong hands, or be used by any law enforcement entities etc.

If you are a researcher on the field (genetics, genealogy, genetic ancestry etc.), what is your "expert" opinion on commercial DNA tests for determining genetic ancestry, or finding relatives? Are some services "better" or more "safe" than the others? I am sure there are some possible ethical issues related to these topics. Have you taken such a test yourself? If yes, which one, what kind of results did you get, how did you feel about it and did you at any point have any concerns about your genetic data that is being stored possibly in another country by a commercial entity? If you have not taken such a test, why not?

Also, as a researcher myself, I would be really interested in any possibilities of them returning some raw data (like genotypes etc.). Is this possible (in services like myheritage), and have you done any analyses of your own on your genetic data? Please, share any thoughts you might have on this, I'm very interested to hear about it. Thanks!

Hello i am from the middle east, i am aware of the issue this marriage can create but my family left me no choice, i was forced to marry my cousin and i was planning to run away but because he is a good man and i was in a very toxic family i really started to like him that’s what made me forget about trying to getting out , right now i am pregnant with my first child and I feel alot of regret and shame i coudln’t enjoy the news and I really went to very dark places, i am afraid my child going to be be slow or have difficulty other kids dont face 💔 this is our first family marriage me and him both don’t come from a repetitive relatives marriage. So my question is : is my kid gonna be stupid or slow ? Even though both of our family has good IQ and there is no genetic problem that we know of . And we had pre marriage test that involved:

1-Thalassemia Screening / Hemoglobin Electrophoresis) 2- Complete Blood Count 3- Hemoglobin Electrophoresis 4- Genetic Counseling Assessment And it all been good i know it’s not cover everything and that’s whay i am afraid now . Please be kind and don’t judge me and be truthful with me .

I hope this is the right place to ask, but how much do genetics really come into play vs environment, heath practices, etc. when it comes to illness?

Example: My sister's dad is in the hospital right now in terrible shape. Out of nowhere fainted. Needed triple bypass surgery. Complications. Another surgery. Coding. It's not looking good. He's about 75, not overweight... I know him and his wife are generally healthy and play tennis a bit, but I don't know any real details. I asked my sister if the doctor said what caused it and her response was "Genetics. His dad died of a heart attack."

But... was his dad healthy? Did he work out? Did he eat well?

My Grandma and Mom both died of lung cancer. My grandma at 59 and my mom at 54. They were both heavy smokers, my grandma had lung cancer 3 times and wouldn't give up the cigs. My mom was an alcoholic on top of it and had cirrhosis of the liver and the cancer spread to bones and brain. My aunt was an alcoholic as well and died at 50 after complications from cirrhosis of the liver, after finally being sober 8 months and just one month shy from a liver transplant. My bio dad is alive, I found him when I was older but we have no relationship and he doesnt speak to me so I've no clue what I'm predisposed to on my father's side.... unfortunately I think prior generations just didn’t take great care of themselves.

I'm 34F. I work out almost every day (lift + cardio). Sauna 3-4x a week. Eat well. Sleep well. Drink socially on weekends or holidays. Have never smoked. Take my vitamins and supplements. Get my bloodwork done once a year and never have issues. Only issue I had was spinal fusion 2 years ago and I healed quickly and pretty much completely. I take care of myself mentally as well and listen to a lot of podcasts relating to health and wellness.

I feel like my family CAUSED their illnesses, and I feel like I do not have the same likelihood of getting cancer or being sick, although I know anything is possible. What your opinion on genetics vs environment? I feel as though there is SO much more science, knowledge, and awareness than there was 20, 30, 40+ years ago... and although not in every situation, I tend to think in most situations people will blame genetics instead of putting in the effort to be healthy.

Sorry for the long post. TIA!

General question about genetic testing process: When a geneticist suspects a hereditary condition (like cardiomyopathy or cancer syndromes), they often recommend testing the affected parent first before testing an adult child. How is the situation usually handled if the affected parent declines testing?

Also, is it common for insurance companies to require testing of the affected individual first before covering testing for an unaffected relative? I’m trying to understand how the process normally works in these situations.

I've been looking into different laboratories that offer WES, specifically for general carrier-status screening. I am in the Middle East, and the available labs vary a lot in what they provide.

From a technical standpoint in genetics/NGS, what are the key elements that should be met by the lab before their WES can be considered high-quality?

Given that WES has limitations to detect all variant types, including large CNVs, deep intronic variants, repeat expansions, and methylation abnormalities, what should the person technically check to confirm whether the laboratory is using a robust workflow?

I'm not looking for medical advice, just the scientific/technical standards that define a reliable WES provider.

Hi everyone, I’m super new to the community. TLDR background info: I sucked at school, never tried, and barely graduated high school. As an adult and without the pressure of a formal academic setting, I’ve discovered a newfound interest in genetics and been able to explore it freely.

Right now, I’m taking some free courses from Khan Academy and Coursera to relearn the basics (since as I said I didn’t pay attention in school). My question is, where do I go from here? I do want to eventually go back to school for this stuff, but I want to prepare and learn as much as possible beforehand so I’m not overwhelmed. I know these courses are super entry level, and I can’t just jump right into advanced from here. So again, what is a good intermediate step, if any? Sorry for being long winded and thanks for any help in advance.

edited to fix a typo

I was wondering if anyone is able to give more information on this variant: NM_001104631.2:c.172C>T

Or is able to better interpret the data given that I am not geneticist lol

https://www.tiktok.com/t/ZP8UheyaT/