Gene Testing
 

I finally took the tiger by the tail and had my genome tested commercially by one of the services that does AUTOSOMAL DNA testing. Additionally, there are FREE ADD ON programs that you can run your raw data thru to really look at things. I don't want to advertise, but if any one looks for gene testing companies, this one runs $149. Yes, that's all. They give you a great interactive web site. They list your mutations and what diseases they are associated with.

I highly, highly recommend doing this. I don't know what caused my PN yet, however, I found out I carry a lot of mutations for diseases that are associated with PN.

I also have a LOT of gene mutations associated with Celiac Disease. I have been tested several times, always by the same guy, but, after going gluten free for 3 weeks, I went in for an ANA and it was NEGATIVE! After 6 years of having a high ANA, whether on IVIG or not, it came back negative.....Hmm. I found out I am an FUT2 non-secretor which means my mucous and epithelial tissue does not secrete blood antigens when it attacks virus or foreign invaders. About 20% of the population carries this, and I wonder how this affects immune response in general. It confers norovirus resistance.

I feel ever so slightly better, but, I don't expect miracles.

Also, the test came back with MANY drug polymorphisms. I can't take many drugs given for this condition, nor the other common conditions we see. I am a a very high risk for myopathy from statins. I metabolize amitryptiline and SSRIs very slowly as well as some anti seizure meds. I metabolize all NSAIDS including aspirin very slowly. I don't do well with Wafarrin either. I slowly metabolize caffeine. I have several enzymes in my liver that don't metabolize drugs properly. There is additional raw data that will be of use in the future.

I may have some issues with a gene involved with CMT and HNPP.

Altho there is no 'ah ha' moment which will lead to diagnosis, there are significant medical and lifestyle decisions I am making based on knowing what my body is naturally all about!

I am waiting for results of medical testing to see if there is a mitochondrial issue via several nuclear genes that influence mitochondrial. The 24 nuclear panel. This is second line testing after your mito genes come back typical.

After poking thru the genome, I understand how primitive 'modern' medicine really is. Wow.

Very interesting. I think you can put the name of the place you
are getting tested at on here. It is not against the rules,
to share. (only not for those working at the labs to advertise per se).

I might get it done too. I suspect I am a slow metabolizer as well, as I usually need much smaller doses of some drugs.

Wow, thanks for sharing this. Very interesting indeed.

Did this test evaluate MTHFR mutations?
In other words, methylation errors?

And--
 

--did they do a DQ lymphocyte typing (primarily for celiac propensity, but this often reveals other tendencies as well)?

I assume you've never shown up positive on an anti-gliadin or anti-transglutaminase assay.

I did 23andme which is an autosomal testing service online. I had almost my entire genome typed. They skip a small portion of genes. They also do your mitochondrial genes too.

I was gene typed, in other words, they analyzed my genes and pointed out alleles in snps that are mutated in people that have the disease. Same with MS. The genes only point to propensity, and are not diagnostic, however, if you carry enough mutations, you can start to draw some conclusions.

They typed my Cytochrome p450. Three of my enzyme systems have issues. CYP2C9*1 is not functioning, and CYP2C9*2 is poorly functioning. CYP1A2 is metabolizing slowly as well. There are additional genes causing metabolism issues. I also have a problem with statins, in my genotype, statin myopathy risk is 5x higher. I found out that I have an issue with serotonin levels being too high.

When you get all the raw data, you can do an add-on to the 23andme, via Snpedia. This automatically references all your snps, so you can click on the snp and get citations! It refers you to several data bases and google scholar citations.

You can also take your raw data and run it thru Promethease, which is yet another service, (free) that accepts 23andme raw data. (They charge $2 via Amazon to expedite your download-it's very long otherwise) There are several free programs that take the data for anthropology use or medical use.

23andme is very user friendly. It's easy, colorful and interactive. You can go as deep as you want into the data. They warn you and allow you to NOT view certain data, such as Alzheimer's risk, if you choose not to. You can lock it out of view.

I recommend it, for the drug metabolism testing alone.

phenotype
 

i read an article lately, dealing with anew field - epi-genetics, which said that even if we have mutations on our DNA, what is influence is the envirment. We have to suplly our body with good stuff and hope for good.
I reccomand you all to read the book "the biology of belief".

Some of the members of our PD forum have done the
23andMe service.

I just had peek at 23andme but cant see it for $149.00 anywhere, its says $299.oo on the splash page here

Thats a heck of increase.

m

Looks like they raised the price. They were just granted a patent recently too.

It was $149.00 and I looked about 2 wks ago.

http://neurotalk.psychcentral.com/thread170864.html

Read the whole thread... there is discussion.
23andme is now $99 US.

I can't afford it either right now and am trying to harass my sister into delving more deeply into her results, I will tell her about Snpedia, etc.

I found a nifty drug site called DrugBank, its technical but if you scroll down to enzymes it lists the cytochrome pathway for each drug. If you click on SNPs at the bottom of that part it will actually show polymorphisms....if you happen to have a gene sequencer in your kitchen you could test yourself! :D.

I've found some things that are suggestive even though I don't have hard data re: my genetics. It looks like there may have been a reason I took 2 prescription strength Prilosec and felt like I was poisoned. :eek:

Substrate=your med, what is being metabolized.
Inhibitor=lowers the amount of enzyme being produced to metabllize it.
Inducer=stimulates enzyme production.

http://www.drugbank.ca/

You have to have the generic name and sometimes know which form you have.

judi

I will probably take the plunge and try this. It seems the price is $299 but as of May 2012 they have eliminated the yearly subscription fee, so the data is good for the life of the service. I would rather spend a few $$ upfront and not have to worry about it expiring.


I am wondering where you downloaded that tool to analyze the data. Can you provide a link? I didn’t see it on their website.

late reply
 

I am so sorry to be posting this so long after your request. I just got tired of mulling disease. I sincerely apologize. I hope you are still looking for this information.

The add ons were thru Promethease.

http://snpedia.com/index.php/Promethease

Did anyone else ever end up getting this testing done? I'm curious how doctors react when you bring them these results.
hopeful

http://neurotalk.psychcentral.com/thread179732.html

I did

Thanks! Did you take to the doctor who is treating you?

I got some blood work done. Once i get results I will let me PM doctor see the results.

Most doctors are not equipped to do personalized medicine. I found I have to spoon feed doctors information. Due to the large number of drug polymorphisms I have, 1A2, 2C9, 2C8, 2C19, (one is a null allele, non functioning totally), problems with serotonin transport, problems with statins, something to do with NAT and OAT, whatever those actually are chemically, I am not very fond of meds these days. We could have had 4 generations of data but no one seemed interested.:(

I saw a geneticist, but, the problem is they are only equipped to do diagnosis regarding snps that have been researched. Most have not.

I know 23andme has raised the price to $299. It is worth the money, just for the drug typing.

Again, if you run your 23andme data thru Promethease for $2 you get a WHOLE LOT more information, but YOU have to do the research on the snps. You can add SNPedia for free as an 'add on' and this will take you to google scholar, and the exact research regarding the snp you are researching. Snps have a number preceeded by the letters 'rs', for example, rs106457....that is a snp. Again some genes don't mean you have a disease or condition....genes need promoter genes to work. However if you get a profile back that says you have a propensity toward getting a condition, then you can be more suspicious that this could be your issue.

For me, a lot of my issues have always been drug related, but with childhood RLS, something neuro is going on. It is safer for me, at this point, to live with it, which means living with pain and other issues.

Most docs these days seem to feel you need to leave their office with a script. They don't seem to have any interest in diagnosis. After doing 23andme, Medicine seems a bit barbaric at this point in time. We have no idea what we are messing with some of these 'treatments' they recommend. Yes, Medicine does save lives, in my case, they almost killed me.

Thank you for posting again about your gene testing.

I totally agree with you about the ignorance in medical drug use.
I've watched it for over 40 yrs and listened to people suffering with medications every day.

There is even a book about drug depletions...but doctors don't read it. pfffffttttttt..... I don't think they WANT to know more, they just want you to leave in a few minutes so they can see another person and another many dollars $$$$$$.

It is the rare doctor who learns these new procedures and thinks about them. Remember the drug metabolic data is only about a decade old or so. I met a gal at work who did some early lab work with the P-450 cytochrome system at Wayne State...it was so new then.(early 2000's) Most doctors did NOT learn it in school. And it is complex and difficult to understand.

And you are totally correct that this information is in the LAP of the patient now. We have to keep the records and check our own treatments until the doctors "catch up"....:rolleyes: