#genetic testing

[wikipediapictures]

Waardenburg syndrome type 1

“Facial appearance of a boy from China with Waardenburg syndrome type 1, caused by a mutation in the PAX3 gene.” - via Wikimedia Commons

[iamf0rtis]

alright this one might get me in some online fights here on tumblr but i feel like *someones* gotta bring it up

aborting a fetus with a genetic or mental disorder because you cannot take care of them is not eugenics.

bringing a fetus into the world when you can not care for their disorders is cruel.

if you can not care for a kid, you shouldn't have it. yes, that includes kids with autism, kids with down syndrome, kids with cystic fibrosis, etc. its not eugenics, its wanting the best for yourself and any kid you bring into the world.

its not bad to abort a fetus you can not care for. its bad when you know you cant take care of that child but have it anyway.

genetic testing doesnt necessarily promote eugenics, it allows parents to make educated choices about their family and the children they are bringing into the world. frankly, i think it makes the lives of disabled people better.

if you could make sure your child doesnt suffer from a chronic disability, wouldnt you do it? i dont think thats a bad thing.

[the-maddened-hatter]

Low-key cannot stop replaying a kind of weird interaction I had with a genetic counselor at one point when I got tested to see if I had any known syndromes due to having one bigger weird medical thing and a lot of smaller medical things and technology advancing since I was born.

(turns out I do have some slight mutations bc my parents both have the same but slightly mutated gene, but with slight variations as to how on each one, and the big weird medical thing was apparently just a random biological fuck you)

But that's not really the part that's weird, what I found weird was when she began reading the results she was like "Ok, so you're female you're definitely female. Definitely female..." And it's just like.

Ok, like I mean yes I was curious because I'd read some people can be intersex and have no idea because they never have any reason to find out, and I certainly can't say I was shocked to find out I'm a perisex AFAB, like yeah that pretty much tracks with everything that has ever occurred, but like why are you telling me three times????

You don't know I'm in any way weirdly gendered, like yeah I had a breast reduction since the last time you saw me but I would have had to do that anyway even if I was cis, I'm not even 5 feet tall ffs, those things were not OSHA approved.

She seemed nice and liked me fine from what I could tell so I don't think it was to try and "make the queer cry", and even if she wasn't I'm very not out so it's not like she would know, maybe she though I was "worried" about potentially "secretly not really being a girl" or something???

Like I totally get telling me what you see on your paper, and it's really not going to bother me on any of those facets I'm ok with who and what I am, but like what bothers me because it was weird is why did you tell me 3 times???? Back to back to back?????

[helshollowhalls]

Not surprised in the slightest. See, this is why I don't do shit like that.

Data breaches? Of course.

If you want my fucking DNA to analyze and sell the resulting data, put in some goddamn effort and pick up a stray strand of hair or go full crime scene analyst like the good old days. I won't give it to you served on a silver platter wrapped in a pretty bow and pay you on top. Get bent.

[crippled-punk-guy]

Finally, after almost a decade of waiting, fighting with doctors to be taken seriously, and suffering because of something that hadn’t been properly identified, I am finally getting not only genetic testing but an MRI of my back and a referral to neurology!

My rheumatologist noted that my hypermobility is not necessarily indicative of HSD so she ordered genetic panels for connective tissue disorders that don’t have as severe hypermobility, she thinks the current issues I’m having are neurological and that while I do have deformation in the bones it seems like it’s less lax joints and more not having proper control. But given that I definitely was hyper mobile in the past she is still testing for EDS because some of the sub types don’t have *as* severe hypermobility and could still be associated. The blood has been drawn and I’m waiting for the call for the MRI to see what’s up with my spine.

[drmilindcom]

How to Eat for Your Genes: An Intro to Nutrigenomics

Nutrigenomics Have you ever wondered why some people thrive on a high-fat keto diet while others feel sluggish? Or why your friend can handle caffeine like a champ, but one cup leaves you jittery? The answer may lie in your genes. Welcome to the fascinating world of nutrigenomics—the science of how food interacts with your DNA to influence health, weight, and disease risk. In this guide, we’ll…

[allthegeopolitics]

Genetic testing firm 23andMe has filed for Chapter 11 bankruptcy protection in the United States amid weak demand and losses from a 2023 data breach. Its co-founder and CEO has resigned. San Francisco-based 23andMe announced on Sunday that it will look to sell “substantially all of its assets” through a court-approved reorganisation plan. The company’s shares fell 50 percent to 88 cents in Monday trading after co-founder Anne Wojcicki, who made multiple failed takeover bids, resigned as CEO. 23andMe did not say whether there are other interested bidders. It will continue to operate during the sale process, having secured $35m in financing over the weekend.

Continue Reading

[theglowstickchronicles]

Got me generic screening back and if the 176 gene mutations they screened me for, I only tested positive as a carrier for 1, which is really nice. I was worried that there were punnett squares in my near future 😬😬

[trexalicious]

While the company’s privacy policies claim to prioritize customer consent, a sale could result in a new owner with different priorities...

[lifewithchronicpain]

Including genetic testing in evaluations for children with autism, developmental delay and other neurodevelopmental disorders often leads to major changes in care, researchers say.

In a study looking at medical records for 316 children treated at a multidisciplinary clinic at the University of California, Los Angeles, researchers found that 42% of those who did genetic testing learned that they had or likely had a rare genetic condition.

This genetic information prompted 70% of patients to be referred to cardiac, gastrointestinal or other specialists. And, almost a third of the children learned about potential medical issues to watch out for.

In addition, the diagnoses led some children to change medications or be referred to a clinical trial.

“This study shows that taking a genetics-informed approach to neuropsychiatric care can make a meaningful difference for patients with neurodevelopmental disorders,” said Dr. Aaron Besterman of Rady Children’s Institute for Genomic Medicine in San Diego, a senior author of the study.

The researchers said that their findings show how genetic testing can lead to more individualized care and they emphasized the need for genomic medicine to be a priority in clinician training.

“Early testing really transforms the care that a patient gets,” said Dr. Julian Martinez, a medical geneticist at UCLA Health and an author of the study.

Nice, genetic testing meant to help people, unlike that opioid genetic test.

Here’s a link to the study.

[thechanelmuse]

Hackers Selling Stolen Customer DNA Data From 23AndMe, Company Faces Class Action Lawsuit

Oct. 9, 2023

Biotech company 23andMe Inc. allegedly failed to protect the genetic information of thousands of people that was exposed in a data breach announced Oct. 6, a proposed federal class action said.

Monica Santana and Paula Kleynburd alleged that 23andMe, a provider of genetic testing services, maintained their personal information in a reckless manner and failed to use reasonable and adequate measures to keep their data safe.

Information exposed in the breach included names, sex, date of birth, genetic ancestry results, profile photos, and geographical location, according to a complaint filed Monday in the US District Court for the Northern District of California.

Some of the information has appeared for sale online, including that of prominent figures such as Mark Zuckerberg, Elon Musk and Sergey Brin, according to a press account cited in the lawsuit.

The company also failed to provide prompt and adequate notice of the incident, the complaint said. 23andMe didn’t respond immediately to a Bloomberg Law request for comment.

Read more

See 🤷🏽‍♀️. Willingly giving up your DNA to a genetic testing company that's a test done for entertainment purposes for what? Didn't this happen before or was that GedMatch. It doesn't mention it in this article, but the one I read about a week ago stated that the 23andMe hackers were going after data for those showing results for Ashkenazi and Chinese descent. The timing is rather...interesting.

I was waiting for this shit to hit the fan. 23andMe was tryna be subtle about the whole thing. "When asked about the post, the company initially denied that the information was legitimate, calling it a 'misleading claim.'"

Whole time:

Now the shit going to the highest bidders. Chile.

[thepastisalreadywritten]

NOTE:

“While our review is ongoing, we have decided to temporarily pause applications on both the record titles for oldest dog living and ever until all of our findings are in place and have been communicated,” the spokespersonn said.

She added that it would be misleading to suggest that Bobi had been stripped of his title as “no action has been taken in relation to any record holders yet.”

[thenarrativefoil]

I 👏 WAS 👏 RIGHT 👏 😤

got some genetic results back and they CONFIRMED so many suspected problems INCLUDING the BH4 deficiency I proposed to my doctor at the beginning of this year. I WAS RIGHT!!! ON ALL ACCOUNTS!!!!!

interestingly im not taking the right kind of b12 (yet again) so here's to attempt #3!

luckily i was only homozygous for one mutation and everything else is heterozygous so I've got some function!!

Need to figure out how to get N-Acetyl-Cystein in the mix without blocking/using up all the DAO enzyme I have bc it hurts my joints 😩

[im-out-of-it]

has anyone down genetic testing? the hospital I go to 7281772x a year is offering it for free. I went on Friday to start the process and I know it’ll probably take weeks to get some results. I don’t know my family history since my records are sealed or whatever but I’ve wanted to do this for years. now it’s finally available! I’m just kinda curious to see if it was beneficial for others ���

but knowing my luck with testing, it’ll probably say I’m fine or just anxious 😭