Genetic testing for specific diagnosable and treatable conditions are extremely common in the medical world.
For example, the BRCA gene test is commonly given to people with elevated familial risk of breast cancer.
They do not go searching through entire genomes for any possible variant, though.
> I ended up finding my own genetic issue (23andme) myself and they STILL do not care. They would rather let me rot on disability and homelessness.
Your other comments said you diagnosed yourself with PNP deficiency. This is generally a fatal condition in infants and adolescence unless treated early with hematopoietic stem cell transplantation.
I wouldn't rely on 23andMe's SNP analysis as a genetic diagnosis of anything, especially disorders which are fatal in adolescence. 23andMe has been known to mis-mark certain SNPs at various times in the past, and it's not guaranteed 100% accurate.
Is it possible that you were a carrier, but not homogenous for the variant? The condition is autosomal recessive, meaning you would need to inherit flawed copies from both parents. Having a single bad copy could show up in 23andMe but would not indicate that you have the condition.
To put it in perspective, the number of cases of PNP known to the literature in the entire world is less than 100.
>Your other comments said you diagnosed yourself with PNP deficiency. This is generally a fatal condition in infants and adolescence unless treated early with hematopoietic stem cell transplantation.
Just stop please. Why do you think I do not know what I am talking about? How long have you researched this gene and have you talked to people who are actively involved in researching this?
Only certain p[polymorphisms are fatal for infants. There are plenty of us living with partial PNP deficiency.
Conclusions: Patients with partial PNP deficiency can present in the third decade of life with mild-moderate immune abnormalities and typical development. Near-normal immunity might be achieved with relatively low PNP activity.
> Is it possible that you were a carrier, but homogenous for the variant? There are many genetic alterations which do not manifest as disease unless you inherit a broken copy from both parents.
I am homozygous for four variants known to effect T Cells. There is not only one polymorphism that can reduce enzyme activity,
The finding in this paper is that partial PNP deficiency produced normal development in 2 out of 3 siblings and near-normal immune activity in the 3rd, despite having only 8-11% of the normal PNP activity.
The takeaway is that partial PNP deficiency might, in some cases, present with only mild-moderate immune abnormalities or normal functioning.
I had my genetics one by 23 and me twice once with the v4 chip, and again with v5 chip. I highly doubt that it would come up the same in both of those runs if there was any type of error. I really don’t understand why it went down plays 23 and me so much.
Near normal immune function in the third person is not normal immune function.
I am one of the people that are affected. Please don’t tell me my history and please don’t assume you know everything about what I’ve suffered through. I’m so tired of this attitude. When there’s no evidence for something people always seem to want to make it into nothing. When, in fact, if they actually studied it, they would find the evidence. But they don’t and people like me just suffer with immune deficiency and mental illness and nothing gets done.
Seriously talk to someone who does clinical genomics not 23andme. Our institute does various tests and the closest one to 23andme is ngs with avg read depth of 2000 and we still get a bunch of errors in reads and we have huge lists of known artifacts that we only know about because we actually do the clinical correlation
> Seriously talk to someone who does clinical genomics not 23andme.
Really? Just go and talk to someone? I am homeless with a mental illness on top of the immune dysfunction. You think this is something I have not tried over and over for the last ten years?
And again, if it WAS an error, why did it show up TWICE, and no one else I who I have 23andme genetics (15 people!) have more than heterozygous SNPs for these?
Please, explain that to me and I will waste more time having doctors just tell me it is my mental illness and drive myself further to suicide.
I realise this must be hugely frustrating for you. The folks on here are mostly genuine in their attempt to help, even if they seem misguided due to lack of context. If you could find the time and space to be patient with them i'm confident that you may learn something of value.
I admit, this is a rant, but because I am tired and frustrated not only for myself, but for all the people I know and support who are living with chrnoic illnesses. I am not mad at anyone personally.
> The folks on here are mostly genuine in their attempt to help,
Are they? You know what helping people looks like? It has nothing to do with words. All I hear are words all day.
Me: "Can you help me, I need housing?"
Everyone: "Have you looked on Craigslist?"
Me: Can you help me? I am sick and cannot think straight.
Everyone: Have you tried searching for a geneticist?
I am the one who is ill and I am supposed to do all the work? Help is "Hey, I am a geneticist, call this person and ask, or call this person, or call me."
Learn something of value? I am done with learning. I fricking taught myself genetics and neurological biology, I have managed to at least get my self well enough to get off of all my psychiatric medications except for klonopin as needed. I taught myself nutritional genomics and lowered my cholesterol through diet alone, I discovered why EMFs give me insomnia, mania, and palpitations.
So if anyone here is a geneticist and wants to see a real European genetic freak let me know. Here are some hints; NOS1AP, GCH1, PNP, FASD1, FADS2, CPT1A, BTD, SLC18A1, SLC18A2, ERAP1, FUT2 (non-secretor), NCAN, NRXN1, and ...
I was in one genetic study and they found I was heterozygous for this:
GALC c.1685T>C (p.Ile562Thr) I have the document from INVITAE!
I demanded to talk to a genetic counselor. They said it was NOTHING! I showed the geneticists this:
And they STILL would not test my enzyme activity even when I have episodic spastic paraplegia so bad they thought I had MS! They genetic counselor did not even know what the enzyme did!
I mean what more do I have to do?
ADDING: I mean what is the change that I am a FUT2 non-secretor (Galactoside alpha-(1,2)-fucosyltransferase 2) and have this GALC (Galactocerebrosidase) polymorphism? They both have to do with galactosides!
Having any chronic condition, especially one that's not a "normal" condition with a treatment script (like say Diabetes), causes one to discover really fast that most health advice is useless at best, most doctors are maybe only 10% better than that and you will have to do far more work than you ever thought in keeping yourself alive. Most people will be more concerned with the idea that you might be faking something and getting away with it than actually trying to solve the issues at hand. I'm sorry to find another soul going through it, and I have nothing more to offer than condolences and wishes of good luck in finding a doctor that will actually listen and stick around.
For example, the BRCA gene test is commonly given to people with elevated familial risk of breast cancer.
They do not go searching through entire genomes for any possible variant, though.
> I ended up finding my own genetic issue (23andme) myself and they STILL do not care. They would rather let me rot on disability and homelessness.
Your other comments said you diagnosed yourself with PNP deficiency. This is generally a fatal condition in infants and adolescence unless treated early with hematopoietic stem cell transplantation.
I wouldn't rely on 23andMe's SNP analysis as a genetic diagnosis of anything, especially disorders which are fatal in adolescence. 23andMe has been known to mis-mark certain SNPs at various times in the past, and it's not guaranteed 100% accurate.
Is it possible that you were a carrier, but not homogenous for the variant? The condition is autosomal recessive, meaning you would need to inherit flawed copies from both parents. Having a single bad copy could show up in 23andMe but would not indicate that you have the condition.
To put it in perspective, the number of cases of PNP known to the literature in the entire world is less than 100.