Non-clinical genetic testing

This is mentioned VERY often on boards & facebook groups & I am getting REALLY tired of all this false hope, misinformation, lack of information, etc...

People that have never even taken a genetic class, but they think they know what they are talking about!!! I even had a geneticist here locally in our group say I was wrong, but her explanation made NO sense!!! I question what she really does!!!

Here is what I know!!! I have researched, I have taken college classes.... I am very interested in the genetic aspect of EDS!!!

COL5A1 is the gene that contains variants responsible for Classical EDS (Collagen type 5)
It contains 11,072 snps
23&me tests 118 of those

COL5A2 is also responsible for Classical EDS
It contains 5,321 snps
23&me does 32 of those

Do you see how much information your missing?????

Sites like livewello allow any user to make a template, just because the snp is in the gene it does not mean it causes EDS!!!

COL3A1 is responsible for Vascular EDS (Collagen type 3)
It contains 1,831 snps
23&me tests 42 snps

Again, you are missing 1,789 snps!!! There are 320+ mutations that cause VEDS!!!

TNXB can cause HEDS, there are 1,377 snps, 23&me does 91 of them
PLOD1 can cause type VI there are 2,059 snps & 23&me does 18 snps
FKBP14 has 587 snps, 23&me does 5 snps

I wish the general public had a chance to have genetic testing, actual clinical genetic testing.  I wish people with EDS or suspected EDS or the MANY people misdiagnosed for years could get CLINICAL genetic testing!  We are all trying to get whatever information we can so we can help the process of getting a diagnosis.  The problem is, with non-clinical tests, the information is just NOT THERE!

If you look on the website Chronic Pain Partners, there is a recent video about genetic testing by one of the geneticists at UW Seattle.  Listen to it! It helps make sense of it all!

People spends hours doing these reports & believing they see the variant in their genes.  Everybody has less common alleles & the majority of them are completely benign! It is much less common, out of our 20,000+ genes to have an allele that causes a condition or disease.  But it just takes 1 among those thousands to cause it, it takes research to know which one it is!