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Razzle

Genetic testing: "Personalized medicine," liver enzymes, genotypes, GeneSightRx, Genomind, etc.

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Razzle

ADMIN NOTE Also see The importance of MTHFR, methylation, and B vitamins

 


 

When I was on .5mg of Klonopin a day I turned jaundiced and knew something was wrong. My doctor even accused me of doctor shopping and getting more drugs since my blood levels were 5 times higher than my dose should test.

 

That was back in 1990 before the Pharmacogenetics tests were available. I contacted several research centers and found that Gerogetown University Medical School was developing the fist genetic drug tests. I sent them blood specimens and found that I have a genetic variation in my CP450 drug detox system.

 

Later the most used test, the Amplichip verified that I was an extremely slow metabolizer and that my body might actually convert chemicals to unknown compounds. I was given pages of drug lists to not take or take with great caution and in low doses. Every single psyche drug was on that list.

 

I also had the test done by two other companies with the same results.

 

About 15 to 20% of US citizens have this genetic abnormality. If you do, a tiny amount of a drug can build in your system because you are not eliminating it. Other genetic abnormalities can cause us to improperly break some chemical bonds and leave an unknown chemical in our system. I have both.

 

Couple that with genetic Blood/Brain Barrier variations and you have a recipe for major problems. Anyone who has had adverse drug reactions would do well to get this test done.

 

R

Edited by Altostrata
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squirrel

Wish i could but don't think is available here in UK.

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Altostrata

There is a lot to say about this, will post more on it later.

 

First a caution: These tests are quite expensive. While they may satisfy your curiosity about why you had reactions from certain drugs or drug combinations, and perhaps give doctors a guide about what medications to prescribe for you in the future for real illnesses, having this information won't help you recover from withdrawal syndrome.

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squirrel

yes i realise that but would be good to know because it is something I don;t understand why some of us have it so bad.

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Razzle

If you have ever had a bad reaction to a drug Medicare and most insurance companies will pay the cost. One ER trip is more expensive for them than the test. There are other companies that do it also but I dont know the accuracy.

 

Any no it wont help us now -I dont plan on ever taking any other drug but in a hospital emergency I want this in the doctors hands.

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meistersinger

Has anyone ever heard of this program from AssurantRx? To me, it smells too much like B*******.

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Altostrata

Do you have a link, m? What have you learned about this?

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meistersinger

Do you have a link, m? What have you learned about this?

 

This is the blurb from their web page on this service.

 

http://Www.assurerxhealth.com/genesightrx

 

 

GeneSightRx is the first psychiatric pharmacogenetic product from AssureRx Health. This laboratory-developed genetic test uses state-of-the-art technology to measure and analyze clinically important genetic variants affecting response to psychiatric medications in individual patients. The results of the test can help a clinician understand the way a patient's unique genetic makeup can affect how certain psychiatric drugs work for each individual. The analysis is based on pharmacogenetics, FDA-approved manufacturer's drug labels, scientifically valid published reports, and proven pharmacology. Quick turnaround time, combined with a customized report of the patient's genetic makeup, clinical experience, and other factors can help a clinician make personalized drug treatment choices for each individual patient.

Process:

The patient is diagnosed with a psychiatric disorder and medication therapy is deemed appropriate. A GeneSightRx test is ordered by the clinician through the secure on-line web portal

A saliva sample is collected using a cheek swab from the patient and shipped overnight to AssureRx Health's CLIA-certified and CAP-accredited laboratory

The GeneSightRx test is performed and the results are analyzed typically within one business day

The clinician is emailed that their patient report is ready and accesses the GeneSightRx report through the same secure on-line web portal

The clinician determines and prescribes the appropriate medication therapy for the patient

What you can expect with each report:

The most commonly prescribed antidepressant and antipsychotic medications arrayed in three color-coded columns indicating the patient's likelihood of appropriate metabolism and response

A detailed report of the patient's genetic variants

A drug interaction table indicating potential conflicting substances

 

If you are a clinician interested in ordering a GeneSightRx test for a patient, please navigate to our Medical Professionals page for registration and ordering information.

 

If you are a clinician and are searching for the results for a patient, or if you are already registered and wish to order a new test for a patient, please click here.

Edited by Altostrata
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Altostrata

Some people lack specific liver enzymes needed to metabolize specific drugs. For example, many antidepressants require the liver enzyme designated at P450 CYP2D6 to be safely metabolized.

 

People who are low in CYPD6 (an otherwise normal genetic variation that causes no problems other than with drug metabolism) would be called "poor metabolizers" for CYP2D6.

 

Most likely what this test does is test liver enzyme genetics.

 

If your test result shows you are a "poor metabolizer" via this or that liver enzyme, the doctor may be able to select a drug for you that does not use that metabolic pathway.

 

This doesn't mean the drug will work, or that it will not have adverse effects. It means that the doctor may be able to avoid adverse effects because of poor metabolization -- which are pretty common among poor metabolizers, and not just for psychiatric drugs.

 

Many doctors mistakenly attribute ANY adverse effect, including withdrawal syndrome, to a lack of liver enzymes. This is yet another way they misunderstand the adverse effects of psychiatric drugs.

 

So the test is probably not total B*******, but it is of limited value and pretty much useless to anyone with withdrawal syndrome.

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Barbarannamated

I wonder if test will reveal genetic mutation that interferes with folate metabolism, for example, and recommend the appropriate OTC preparation? Call me cynical, but this has pharma all over it.

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Rhiannon

I wonder if test will reveal genetic mutation that interferes with folate metabolism, for example, and recommend the appropriate OTC preparation? Call me cynical, but this has pharma all over it.

 

Call me cynical too, then.

 

It's all the same "we're smarter than five billion years of evolution" BS, in my opinion. Medical hubri$.

 

Human lives are less important than profits, don't you know that by now? Where are your priorities, lady?

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UnfoldingSky

I looked into genetic testing when I reacted to an AD. It turns out the tests are not nearly as foolproof as would be needed to avoid a reaction. Here's a link to a decent article that ran a few years about genetic testing for all manner of health issues (please note though, the biological origins of schizophrenia have never been proven, as they claim):

 

http://walrusmagazine.com/article.php?ref=2008.12-selective-testing-alexander-gelfand-big-pharma&page=

 

And a passage from the same article, specifically discussing warfarin reactions, but with some generalizable points:

 

Roses’ statement reflects the tremendous sense of possibility that surrounds pharmacogenetic testing, but the fact is that genes play a limited role in many adverse reactions. Even among individuals who possess the two genes so far tied to warfarin sensitivity (and, yes, they are especially common in white people), the genes themselves account for only 35 to 40 percent of individual risk. Variables such as age, weight, gender, disease, and interactions with other medications can also factor in. No evidence exists to date that genetic tests will actually decrease the rate of fatal warfarin reactions, and there won’t be any until the tests are in widespread use.

 

The largest issue for me is that we have to defend ourselves against drugs that were never shown to be safe or effective in the first place. And we have to hand over DNA to do that? AND pay for it too? Why is the burden of proof that their drugs are safe not squarely on doctors, researchers and drug company execs?

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Altostrata

The liver enzyme involved in warfarin metabolism is P450 CYP2C9. Haloperidol, thioridazine, risperidone, amitriptyline, imipramine, fluoxetine, fluvoxamine all utilize this liver enzyme: see http://medicine.iupui.edu/clinpharm/ddis/table.aspx

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GiaK

I shared the below in a private social setting...so I've cut and pasted it here. I thought others here might find this info helpful or informative. I think it's highly likely that some maybe rather signficant percentage of us who get really sick have this stuff going on complicating issues...

 

got my DNA test back for gluten info. I have both a celiac sprue gene and another gene that predisposes to (also potentially severe) sensitivity to gluten that is associated with many neurological illnesses when activated. It's pretty clear this is a large part of the picture of my health. These genes were activated by the pharmaceutical stress in my body. The mourning continues as I allow to sink in the fact that I will need to be vigilant of gluten for the rest of my life and be one of *those* weirdos who seemingly refuses to eat anything. People just love people like us (not). The good news is that people really do get better from this...when they've been as sick as I have it can take 4 or 5 years. I've only been truly gluten free for 8 months since prior to that the other 2 years gluten free I was being exposed unknowingly to a HUGE source.

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alexjuice

Sorry to hear about that for you, Gia. I know you've been through the ringer and you are certainly ready for some upside surprises in the health news department. Hang in there.

 

I haven't been tested for celiac disease but had to remove gluten in May due to elevated anti-gliadin antibodies returned in my stool test. My doctor recommends I avoid gluten and a couple of other food-protein allergens for life.

 

I think my case is not too dissimilar from yours in that the tax and trauma of psych meds played a main role in the trigger and susceptibility of health challenges -- mostly immune-related. (I'm shaking my head in sad disgust just now.)

 

Well ... If there's a silver lining, you're already adapted to eating gluten-free...

 

best,

Alex

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Karma

Hi Gia,

 

I am one of those stories of people who have healed from the emergence of symptoms associated to celiac sprue. It took about 4 years until I felt completely and totally well, but I experienced continual improvements as soon as I started changing my diet.

 

I've eaten a gluten free diet since 2005 ... and I am sooooo much healthier for it :rolleyes: . I eat whole foods and avoid processed foods. That way I avoid hidden gluten sources and eat much healthier food choices. I've lost 30 pounds since I found out I had celiac sprue and I've kept the weight off. I truly believe that by adjusting my diet I have set myself up for a successful taper off of ADs.

 

I don't care what other people think of my "special" dietary needs ... making these changes has saved my life! If you look at it this way you may see this as a blessing.

 

I am well-versed in which chain restaurants and local restaurants understand a gluten free request and I eat out with my friends and family for lunch and special dinners. I have been able to travel to visit family, travel internationally for work, and maintain my very strict gluten free diet.

 

Rather than feeling like you burden others with your special dietary needs, look at it as an opportunity to educate people about it. I am just amazed at how this one type of food affects people who are allergic to it. It causes mood and behavioral issues as well as inflammation in the body, bloating, inability to lose weight, fatigue ... and to think that by changing your diet you can recover from all of these symptoms (oh, it also contributes to low bone density due to causing malabsorption).

 

Whether the stress of being on ADs for so many years or the stress of the kind of work that I do caused my genes to activate and my symptoms to surface doesn't matter to me (and experts agree that stress activates it) ... at the end of the day I learned I had celiac sprue and the cure is eating a gluten free diet. I feel so much better now that however I got here was worth it.

 

Love and light,

Karma

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GiaK

I've been educating people about this for several years already. I have extensive information about gluten and diet on the blog. I'm tired. I'd like to get off the hook, thank you very much. It shouldn't have to be a job to go out for a meal. And frankly right now it is. And I've been gluten free for a long time too and I still can't leave my damn house. I'm not ready to celebrate just yet.

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Barbarannamated

{{{HUGS}}} Gia.

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alexjuice

....

I've only been truly gluten free for 8 months since prior to that the other 2 years gluten free I was being exposed unknowingly to a HUGE source.

 

What was the hidden source of gluten?

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GiaK

wheat based cat litter...I was inhaling it...didn't know that was really really bad for those of us with bad sensitivities...cats get that crap EVERYWHERE and it flies around in the air too

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Barbarannamated

¡¡¡ NOOO!!! How on earth did you figure that out???

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GiaK

I'd been gluten free for 2 years as I said...so when I got some allergy testing done and my bloodwork came back with UBER high gluten antibodies I knew I had to be having a regular exposure...there shouldn't have been any antibodies present if I'd not been having gluten for 2 years.

 

so I had to figure it out...so I was looking at all my supplements and everything I ate etc etc...

 

I think my husband actually made the connection...we got lucky really.

 

it could have gone on for years and I might not have ever known...and just remained sick...forever.

 

Gluten is hidden everywhere and until you become properly PARANOID...because it actually takes full on obsessive vigilance at first until you get the hang of it...one will get re-exposed a whole lot.

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alexjuice

wheat based cat litter...I was inhaling it...didn't know that was really really bad for those of us with bad sensitivities...cats get that crap EVERYWHERE and it flies around in the air too

 

Oh maaannnn, that is so frustrating.

 

I can so feel for you. I had a reaction to soy hidden in a vitamin the other day. Got very upset about it.

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Barbarannamated

Of all the possible toxins in cat litter... wheat?!?!

 

Holy crap! ('scuse the pun)

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Karma

I had the exact same thing happen to me. I was using wheat-based cat litter for my cat ... I had already started feeling better than when I started the process, but my blood tests were like yours Gia, coming back with high allergic reactions. I switched my cat to a pine-based litter and within the next six months everything settled down.

 

Sorry if I offended you with my position on having celiac disease ... I understand being tired. I am also tired of managing every little aspect of my health. Just when I think I'm making progress something pops up like being diagnosed with osteoporosis and I have to start researching how to reverse that because I am not taking the drugs they are offering ... for me the solution to this was also diet-based.

 

I guess I was just trying to offer the possibility that there may come a time when it isn't as much of a burden. I've been eating gluten free for 7 years and in the first few years it was nearly an unbearable burden. For me, it has become less of a burden, I wish the same for you.

 

Karma

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GiaK

thanks Karma...I admittedly get a little touchy when I feel like anyone is telling me how to think or feel :-)

 

I do a lot of work on reframing what has happened to me and considering how I benefit from what can otherwise be interpreted as a nightmare.

 

I think it's important that we all have that capacity. I also think we all need safe places to kvetch and moan. Grieving fully is also part of the process...

 

I know you know this...and I'm sorry if my pain oozed out a bit roughly...

 

Wow! it's funny that you also had the cat litter story...we use pine based litter now too. Oh...my cat actually went gluten free too and her health improved!! Quite dramatically, really.

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Nadia

What DNA testing can you get to figure this put? My BF can't eat wheat and has trouble with other grains, but he had to figure it out on his own.

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GiaK

check this out https://www.enterolab.com/default.aspx

 

they're not definitive tests...but in conjunction with medical history one can figure out quite a lot. DNA is not absolute...but once the genes express themselves much can be deduced...it's not actually necessary to get tests like this...if one is responding to a gluten free life then its likely the DNA will come back positive with that predisposition...I did it specifically to find out about the celiac gene (there are other genes that can cause gluten sensitivity too) -- so that I'd have some clue as to the level of sensitivity. Like did I need to be ultra vigilant...and yes, I do need to be.

 

I got to talk to a genetic counselor as well.

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Nadia

Interesting... thanks for the response. My boyfriend often says he is celiac, but the truth is we have no idea. At one poing he was diagnosed with Ulcerative Colitis, but my niece has that and I know they didn't do the same expensive tests they did for her. They just based it on a colonoscopy. Then, after doing modified SCD for 6 months, he got another colonoscopy and they just said he had regular colitis (?).

 

He travels a ton for work and it is SO hard to do SCD. And he seems to do OK eating some foods like beans, rice, and even some corn. But he's never fully well and has some strange symptoms like a pain under his right rib that we wonder about. Also, UTIs, probably from dysbiosis. I guess the DNA stuff would be interesting just to have answers or satisfy curiosity.

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Jamie1979

Hello,

 

my name is Jamie. 

I´m one of the moderators of www.adfd.org - a German website that helps people to taper off benzos and antidepressants.

With huge interest some very active members and I are reading here to learn more.

 

I´ve used the search function but I found nothing concerning an issue that becomes more and more important:

genotype analysis. There is even no correct translation for this in English; in German it is called "Genotypisierung".

 

I want to give you some information about this.

All important processes of metabolism are regulated in the liver and with our enzyme systems.

Every individual has its own gene configuation; not only concerning the DNA but also concerning the enzyme systems.

 

I don´t know how far research is in the US, but in Germany there are proclamations that "genotype analysis" will be the future of the medicine!

 

So, what has this to do with tapering / withdrawal and so on?

 

Scientists have found out that people can be categorized into 4 groups concerning the most important liver enzyme system: The Cytochrome P450.

Almost every drug is metabolized through gene-subtypes of this system and that has big effects on how a drug is metabolized; if you´re fine with it, if the dosage is correct or if you´re suffering when you take a special drug, because there are so many side effects.

 

I have to simplify the theme because it´s so difficult to explain, but what we know now is that belongig to a special metabolizer-typus has enorm consequences on how you get along with a special drug, for example a SSRI.

 

The 4 groups are:

* poor metabolizers (rare)

* heterozygot metabolizers (tendency to poor metabolizers)

* "normal" metabolizers (the majority of inhabitants of the northern hemisphere)

* ultrarapid metabolizers (rare)

 

If you belong to the "normal" ones - then you´ll probably come along with a dosage schedule that you can find in a package insert, but what´s going on iy you don´t belong to that group?

 

Poor and heterozygot metabolizers have the tendency to need less active ingredient and to take it less often because the enzyme system is not fast enough to metabolize the drug; --> people are suffering from more side effects and there is the danger of cumulation.

One of our German users is a heterozygot metabolizer - after having made that special test the doctors decided that he had to shorten the Trevilor / Venlafaxin dosage from 75mg to 37,5mg; now he feels much better and has less side effects.

 

Extremely difficult will it be if you belong to the group of the ultrarapid metabolizers. They often need a higher dosage and sometimes the enzyme system works so intensly that the active ingredient is almost metabolized before it is able to have an effect at all.

 

 

Concerning me, Jamie.

It took me much time and effort to get the test paid through my health insurance.

The test is only paid if your problems are worse enough so that the doctors have no ideas anymore.

Because of my angst-including reactions of intolarance to almost every antidepressant or neuroleptic drugs I got the "OK" to get the tests paid - but this is not usual. Other health insurances might have refused my request.

 

The tests are extremely expensive and it´ll take around 4 weeks to get the results.

In 2 weeks I´ll know more and I´m very excited! (It´s a simple blood test)

 

Interesting for all of you are especially this two types (most common to metabolize SSRI and TZA / TCA)

CYP2D6

CYP2D19

 

Even if you don´t know German simply look at the list at the end of the side.

There is a table:

http://www.pharmazeutische-zeitung.de/?id=40909

 

 

I´m sorry that I can´t explain it better, but the metier is very difficult.

Because of being a gene test you need to sign the examination application (sensitive data!).

 

If you have more questions I try to do my best to answer them.

 

 

Please excuse my grammar / language mistakes

 

And if you´re interested inn our whole discussion, have a look here:

http://www.adfd.org/austausch/viewtopic.php?f=15&t=7754

 

 

 

Bye

Jamie

 

 

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Jamie1979

Sorry, I made a mistake. It´s CYP2C19.

 

 

Best wishes

 

Jamie

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Pokeshaw

I have had this test thru a doctor in NYC. very interesting. i am an ultrarapid metabolizer.  also test showed that i would benefit from taking Folic Acid but when i tried i had bad reaction.

Currently tapering off Lexapro. initially tapered too fast and had extreme side effects. now after 2 yrs i am down to .70 mg.  it has been a very long and difficult road but i am feeling much better.

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Barbarannamated

I have had this test thru a doctor in NYC. very interesting. i am an ultrarapid metabolizer. also test showed that i would benefit from taking Folic Acid but when i tried i had bad reaction.Currently tapering off Lexapro. initially tapered too fast and had extreme side effects. now after 2 yrs i am down to .70 mg. it has been a very long and difficult road but i am feeling much better.

Cjv,Was the folic acid recommended due to MTHFR genrtic mutation that effects methylation pathways? I have this polymorphism and found out recently from a group similar to this one (for MTHFR) that people with this should avoid SS/NRIs, but I'm not sure why.

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Altostrata

It's  not folic acid that compensates for MTHFR polymorphisms, it's FOLATE, and a very special kind. See http://mthfr.net/l-methylfolate-methylfolate-5-mthf/2012/04/05/

 

To sum up, look for

  • L-5-MTHF = L-5-Methyltetrahydrofolate = 6(S)-L-MTHF = 6(S)-L-Methyltetrahydrofolate
  • L-Methylfolate Calcium = Metafolin = Levomefolic Acid (brand name Metafolin)
  • (6S)-5-methyltetrahydrofolate (brand name Quatrefolic)
  • The labeling must specify the L form (or 6(S) form) of methylfolate
  • Avoid D-5-MTHF = D-5-Methyltetrahydrofolate = 6®-L-MTHF = 6®-L-Methyltetrahydrofolate -- the D form or 6® form of methylfolate

 

The forms of methylfolate that are biologically active are:

  • L forms
  • 6(S) forms
  • L-5 forms
  • Metafolin
  • L-Methylfolate Calcium
  • Levomefolic Acid
  • Quatrefolic

 

 

 

Folic acid rather than folate causes problems for people with MTHFR polymorphisms (up to 50% of the population) because they lack the enzyme to metabolize folic acid to folate and develop folate deficiency.

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Meimeiquest

If you had a polymorphism and ate lots of natural folate, like juicing veggies, would you be okay?

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