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Dr. Bob is Robert Hsiung, MD,
bob@dr-bob.orgShown: posts 1 to 18 of 18. This is the beginning of the thread.
Posted by law663 on November 26, 2005, at 18:03:31
anyone know if this testing is available commerically?
Posted by Tomatheus on November 27, 2005, at 0:02:19
In reply to where to get Serotonin Transporter gene testing?, posted by law663 on November 26, 2005, at 18:03:31
> anyone know if this testing is available commerically?
law663,
This is an excellent question.
I have made modest (but admittedly, not completely thorough) attempts in recent months to try to find out if commercial testing is available with respect to the genes that have shown statistically significant correlations with psychiatric illnesses. To my knowledge, no such tests are available (of course, if somebody else on this board knows otherwise, *please* correct me). A user named scatterbrained posted a message here a few weeks ago about a company called Signature Genetics, which apparently provides their member physicians with genetic testing results so they can use these results to help make treatment decisions. I visited their Web site (http://www.signaturegenetics.com/), and inquired via e-mail whether they test for the genes that have shown associations with psychiatric illnesses. I never heard back from them.
In my opinion, implementing a system of genetic testing into psychiatric practice could only improve the quality of services offered by psychiatrists. I do, however, think that such testing should be voluntary, as some patients might be opposed to having their genes scanned. But for patients who are willing to receive genetic testing, I think that the test results could potentially reduce a lot of the frustration and utter despair that patients experience from going through years (and sometimes even decades) of unsuccessful drug trials. Molecular genetics researchers have made significant progress in finding associations between genetic variants and psychiatric illnesses. They clearly still have a long way to go before even come close to identifying all of the genes that contribute to mental illnesses. It is still relatively unclear how common each of the genes are, the extent to which each gene contributes to a given illness (or illnesses), and whether most psychiatric patients have just one "abnormal" psychiatric gene or multiple "abnormal" genes. But despite the fact that our knowledge of psychiatric genetics is still limited, I think that the knowledge that we do have could still be extremely helpful by at least eliminating *some* of the guesswork involved in psychiatry.
As you can probably tell from the preceding paragraph, the serotonin transporter gene is just one of many genes that have been implicated in depression. Some of the most common psychiatric illnesses (including but probably not limited to major depression, bipolar disorder, schizophrenia, ADHD, panic disorder, and OCD) have demonstrated statistically significant correlations with multiple genes. Likewise, some of the genes that have been associated with one disorder have also been associated with other disorders. Although it is possible that the results of some of these genetic association studies actually represent "false positive" correlations -- some of the findings have been replicated more frequently than others -- I think that the data from these studies are strongly suggestive of the biological heterogeneity of psychiatric illnesses. Even if psychiatrists only order scans of the genes that are currently believed to be associated with mental illness, they will at least be able to understand *something* about the underlying etiologies of their patients' illnesses if the results turn up positive for one or more abnormal genetic variant. This, in turn, would allow psychiatrists to tailor treatments to the biochemical abnormalities associated with their patients' genetic variants, rather than relying exclusively on the subjective criteria of the DSM.
Tomatheus
Posted by jamestheyonger on November 27, 2005, at 1:11:56
In reply to Re: where to get Serotonin Transporter gene testing? » law663, posted by Tomatheus on November 27, 2005, at 0:02:19
I do not think genetic testing is useful, yet, for mental illness. Having a gene for something does not mean you will get it; only existing diagnostic methods will indicate you have depression, ect.
Knowing you have a gene for a disease can allow you to take preventive steps but prevention for mental illness is non-specific (reduce stress, nutrition, exercise). Things everyone should do.
It is a fallacy that there are genes for mental illness, cancer, ect. Genes only control proteins. There is not always a high correlation between having or lacking a protein and a specific disease. Getting from a protein to a disease is often a multi-step process.
For genetic testing to be effective one must be counseled by a geneticist. Other doctors are not qualified to provide interpretation of genetic testing.
Posted by Tomatheus on November 27, 2005, at 1:48:09
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 27, 2005, at 1:11:56
jamestheyounger,
See below...
> I do not think genetic testing is useful, yet, for mental illness. Having a gene for something does not mean you will get it; only existing diagnostic methods will indicate you have depression, ect.
I did not say in my post that I think people should be scanned for the genes related to mental illness from birth. I agree that such a test would not be useful yet. What I said was that genetic testing should be incorporated into psychiatric practice, which by definition, begins when patients go in to see a psychiatrist, usually complaining of the symptoms of a particular psychiatric illness. I also did not state that genetic testing should completely replace the DSM; I said that it would be helpful to have some way of understanding the underlying genetics behind mentally illness so we wouldn't have to rely *exclusively* on the DSM. If a patient is diagnosed with a particular illness, shouldn't that patient's doctor know as much as possible about the underlying cause of the patient's illness so he/she can make as informed of a treatment decision as possible?
> Knowing you have a gene for a disease can allow you to take preventive steps but prevention for mental illness is non-specific (reduce stress, nutrition, exercise). Things everyone should do.
I agree. But as I said, I don't think it would be a good idea to test people for the genes related to psychiatric illnesses from birth, in part, because there is such much about the relationship between genes and psychiatric illnesses (and physical illnesses) that is not known. What I've been saying is that psychiatrists should be able to use data from genetic tests as one tool to help them decide how to treat a patient (but only if the patient first decides to go to a psychiatrist complaining of psychiatric symptoms).
> It is a fallacy that there are genes for mental illness, cancer, ect. Genes only control proteins. There is not always a high correlation between having or lacking a protein and a specific disease. Getting from a protein to a disease is often a multi-step process.
Yes, getting from a protein to a disease is often a multi-step process. But wouldn't it be better if psychiatrists at least had some idea as to how this process begins (the presence or absence of a protein), as opposed to knowing nothing about it whatsoever?
And about the correlations between genes and diseases, particular genetic variants *have* shown statistically significant correlations with many diseases, including psychiatric illnesses. If you were to read research reports of genetic association studies, that is what you would find. On what basis do you dispute these research findings?
> For genetic testing to be effective one must be counseled by a geneticist. Other doctors are not qualified to provide interpretation of genetic testing.
Psychiatrists are not geneticists. I'll give you that. If somebody wants genetic counseling, then, yes, they should see a geneticist. But there is no reason why doctors of all types shouldn't be able to use the results of a genetic test (as they would with any other type of lab test) to help them make more informed treatment decisions. As I've said in other posts, there is far too much guesswork in psychiatry. Just because psychiatrists aren't experts in genetics doesn't mean that they shouldn't incorporate genetic testing into their practice so they can understand *something* about their patients' pathologies before prescribing them drugs could potentially make their patients' illnesses worse.
Tomatheus
Posted by Tomatheus on November 27, 2005, at 2:06:14
In reply to Re: where to get Serotonin Transporter gene testing? » jamestheyonger, posted by Tomatheus on November 27, 2005, at 1:48:09
jamestheyonger,
Sorry for misspelling your name.
Tomatheus
Posted by linkadge on November 27, 2005, at 11:27:13
In reply to Oops, posted by Tomatheus on November 27, 2005, at 2:06:14
There has been some preliminary testing methods that lead to positive results.
One study I remember reading showed that people with a certain varient of the 5-ht2a receptor gene fared much better on mirtazapine than SSRI's.
They had fewer side effects, faster onset, and overall a better resolution of depression.
With regards to the serotonin transporter, one researcher showed that people with the short-short varient did much worse on fluvoxamine than people with the longer version.
This type of research is promising because it might mean that one day, finding an appropriate medication is a lot easier.
Linkadge
Posted by jamestheyonger on November 27, 2005, at 11:28:46
In reply to Re: where to get Serotonin Transporter gene testing? » jamestheyonger, posted by Tomatheus on November 27, 2005, at 1:48:09
"I did not say in my post that I think people should be scanned for the genes related to mental illness from birth."
I was not agreeing or disagreeing with your post or anyone's post on this thread, just posting my general thoughts. I should of started a post without the "In reply to" part.
"Yes, getting from a protein to a disease is often a multi-step process. But wouldn't it be better if psychiatrists at least had some idea as to how this process begins (the presence or absence of a protein), as opposed to knowing nothing about it whatsoever?"
We know very little about the causes and processes of mental illness, let alone how things work from the ground up, i.e. starting at the protein level.
"And about the correlations between genes and diseases, particular genetic variants *have* shown statistically significant correlations with many diseases, including psychiatric illnesses. If you were to read research reports of genetic association studies, that is what you would find. On what basis do you dispute these research findings?"
Common sense. Having a gene does not guarantee getting the disease linked to it, in all cases.
The specific protein a gene encodes for may cause may conditions. You cannot say a gene causes a disease, only that it makes you more likely to get it.The other problem here is psycho meds are non-specific, they work for many different mental illnesses, and psycho meds are very often not well tolerated. Clearly this board illustrates this fact. It is more a question of which med you tolerate first and then hopefully that it works.
If we had more specific meds and really
understood the causes and processes of mental illness a specific a diagnoses would be very helpful. Today it is not.
Posted by jamestheyonger on November 27, 2005, at 12:24:47
In reply to Re: Oops, posted by linkadge on November 27, 2005, at 11:27:13
"One study I remember reading showed that people with a certain varient of the 5-ht2a receptor gene fared much better on mirtazapine than SSRI's."
That sounds interesting if it can predict lack of side effects. Still this kind of testing is not yet ready for general consumption
Posted by Tomatheus on November 27, 2005, at 12:29:29
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 27, 2005, at 11:28:46
> "And about the correlations between genes and diseases, particular genetic variants *have* shown statistically significant correlations with many diseases, including psychiatric illnesses. If you were to read research reports of genetic association studies, that is what you would find. On what basis do you dispute these research findings?"
>
> Common sense. Having a gene does not guarantee getting the disease linked to it, in all cases.
> The specific protein a gene encodes for may cause may conditions. You cannot say a gene causes a disease, only that it makes you more likely to get it.As you probably understand, a statistically significant correlation between a genetic variant and a disease is a correlation between two variables that unlikely to be due to sheer chance. So, it appears that you're not really disputing the statistically significant relationships between genetic variants and psychiatric illnesses, merely stating that "having a gene does not guarantee getting the disease linked to it, in all cases." I understand this, but I think you're missing my point. When people choose to see a psychiatrist, they do following the onset of symptoms associated with at least one psychiatric illness. I am well aware that people can carry a genetic predisposition for a particular illness without ever exhibiting the symptoms of the illness. But these are not the individuals who go in to see psychiatrists. It's the individuals with functional impairment due to psychiatric symptoms who see psychiatrists. If these individuals are diagnosed with a psychiatric illness during their visit to a psychiatrist, then they do have the illness. It is at this point when treatment decisions are made.
If a patient is diagnosed with a given psychiatric illness (such as major depression, for example), genetic testing would give the patient's psychiatrist the opportunity to know if the patient has any of the genetic abnormalities that have shown statistically significant associations with that illness. And if the patient has one particular genetic variant that has been associated with the illness (such as a variant of the serotonin transporter gene that encodes for abnormally slow reuptake), the psychiatrist could make a more informed treatment decision (which would involve considering a drug that accelerates the reuptake of serotonin instead of an SSRI). Certainly, the results of a genetic test should not be the only factor that psychiatrists should consider when making treatment decisions. And psychiatrists and patients alike should always be aware that there is still so much more about the causes of mental illnesses that we still do not understand. But I think it's a mistake to not take advantage of what we *do* know to help psychiatrists understand as much about their patients' illnesses as they possibly could. It is in this sense that I think genetic testing would be helpful.
Tomatheus
Posted by jamestheyonger on November 27, 2005, at 13:00:38
In reply to Re: where to get Serotonin Transporter gene testing?, posted by Tomatheus on November 27, 2005, at 12:29:29
"But I think it's a mistake to not take advantage of what we *do* know to help psychiatrists understand as much about their patients' illnesses as they possibly could. It is in this sense that I think genetic testing would be helpful."
I think if it walks like a duck and talks like a duck it should be treated as a duck. There is no need to test DNA to make sure it is a duck. Having a more specific Dx does not improve treatment in mental illness given how hard the meds are to tolerate and the fact that meds are non-specific.Another issue is meds do not treat the cause of mental illness, they treat the symptoms. It is not hard to figure out what are symptoms.
Posted by Tomatheus on November 27, 2005, at 13:40:28
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 27, 2005, at 13:00:38
> I think if it walks like a duck and talks like a duck it should be treated as a duck. There is no need to test DNA to make sure it is a duck. Having a more specific Dx does not improve treatment in mental illness given how hard the meds are to tolerate and the fact that meds are non-specific.
You could not be more wrong. Consider this article:
http://www.nimh.nih.gov/Press/prprice.cfm
Among the facts reported in this article is the finding that some schizophrenic patients carry a genetic variant that produces abnormally high levels of the COMT gene and actually respond to favorably to amphetamines. COMT is an enzyme that is believed to destroy dopamine and norepinephrine in the synapses. If psychiatrists followed your logic and treated these schizophrenic patients simply as schizophrenics, they would likely prescribe antipsychotics, most of which (among other things) reduce the effects of dopamine by blocking dopamine receptors. The problem with this is that a person with abnormally high levels of COMT is going to have abnormally low levels of dopamine, not too much. Theoretically, most antipsychotics would only make these patients worse. As I said in my previous post, psychiatrists should definitely consider factors other than the results of genetic tests. But if a psychiatrist knew that a given schizophrenic patient had this variant of the COMT gene, this would at the very least give the psychiatrist some clue as to why antipsychotics might make this patient worse (as they often do with certain schizophrenic patients). Even if the psychiatrist prescribed an antipsychotic as the first line of treatment for this patient, he/she might want to consider a medication with a different mechanism of action (in this case, possibly amphetamines, given the results of the study in the article I linked to) if the patient gets worse on the antipsychotic. As a result, patients could end up receiving effective treatment early on instead of receiving nothing but the wrong meds for the rest of their lives.
> Another issue is meds do not treat the cause of mental illness, they treat the symptoms.
Can you be so sure of this? Perhaps the most commonly accepted model for explaining the causes of mental illnesses is the diathesis-stress model, a theory that holds that both genetic and environmental factors interact with one another to cause mental illnesses. Even if a genetically determined biochemical imbalance is only part of the cause of a given mental illness, this imbalance is more than just a symptom. For patients whose depression is caused - at least in part - by the genetic variant encoding for abnormally fast reuptake of serotonin, do SSRIs not treat the cause. For schizophrenics whose illness is caused in part by abnormally high levels of COMT, would a COMT inhibitor that successfully inhibits the right amount of COMT not treat the cause? For someone with major depression whose illness is caused by an abnormally high level of MAO-A, would an MAOI that successfully inhibits the proper amount of MAO-A not treat the cause? Seriously, how can you be so sure that meds never treat the causes of psychiatric illnesses?
Tomatheus
Posted by jamestheyonger on November 27, 2005, at 22:46:49
In reply to Re: where to get Serotonin Transporter gene testing?, posted by Tomatheus on November 27, 2005, at 13:40:28
> You could not be more wrong. Consider this article:
>
> http://www.nimh.nih.gov/Press/prprice.cfmPeople on this site say over and over again
a more specific Dx does not yield better treatment.
Did you see this part:
“Genes don’t directly encode for psychopathology, hallucinations, delusions and panic attacks. Rather, there is a very complicated path between a gene’s influence on the regulation and function of a protein and such psychiatric phenomena,” added Weinberger"
One small study of just 27 people proves nothing. When does the study mention long term outcome ?
I got the feeling this study lasted a few hours
and only measured monoamine levels, not if the patient did better. This makes the study an interesting theory which is not relevant to clinical practice till more information is gathered. I would not think, having taken amphetamines, that they would not be a good long term treatment for schizophrenic patients.I find amine theories very suspect as the cause of mental illness. We have many drugs that effect them and none of them cure mental illness and are far less that 50% effective in general populations.
Anyway, this issue is moot to me, as these tests are not used outside a research setting. I am not saying they will not be at some point once we have real solid reproducible research. If you have a gene how likly are you to get X ? IF genetic testing says a med will improve something
will you tolerate it and will it improve long term outcome ?
Posted by Tomatheus on November 27, 2005, at 23:19:49
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 27, 2005, at 22:46:49
> People on this site say over and over again
> a more specific Dx does not yield better treatment.How many people on this site have had their doctors consider genetic testing results as part of their treatment plan?
>
> Did you see this part:
>
>
> “Genes don’t directly encode for psychopathology, hallucinations, delusions and panic attacks. Rather, there is a very complicated path between a gene’s influence on the regulation and function of a protein and such psychiatric phenomena,” added Weinberger"Yes, and I have acknowledged in my previous posts that the path between the influence of a gene and psychiatric illnesses is indeed complex. There is absolutely a lot more that needs to be learned about the relationship between genetic variations and psychiatric illnesses and depression. But I still think that the knowledge of any potential genetic diatheses that contribute to patients' psychiatric illnesses would be a valuable tool for psychiatrists because, in some cases, it would enable them to consider treatments that they might not have otherwise considered.
> One small study of just 27 people proves nothing. When does the study mention long term outcome ?
> I got the feeling this study lasted a few hours
> and only measured monoamine levels, not if the patient did better. This makes the study an interesting theory which is not relevant to clinical practice till more information is gathered. I would not think, having taken amphetamines, that they would not be a good long term treatment for schizophrenic patients.I do agree that more information should be gathered before amphetamines are recommended for the treatment of schizophrenia. But what is relevant about this study is that it illustrates that some schizophrenic patients (note: I do not say all) actually have a genetic variant that indirectly lowers dopamine levels (and the fact that they are responsive to amphetamines, even if only in the short term, provides evidence that blocking dopamine receptors is counterproductive in the treatment of certain schizophrenic patients). If nothing else, the knowledge that a schizophrenic has this genetic variant could lead psychiatrists to prescribe a more stimulating antipsychotic (such as Abilify) before prescribing one of the more sedating ones.
> I find amine theories very suspect as the cause of mental illness. We have many drugs that effect them and none of them cure mental illness and are far less that 50% effective in general populations.
Well, I suspect that there are a few reasons for this. One is that (as genetic association studies suggest) most psychiatric illnesses are heterogeneic. If there were, for example, five different genetic diatheses for depression (I'm aware that there are probably more and that there are a lot of causal factors that we are still likely unaware if, but I'm using this for example's sake), why would a patient with diathesis No. 1, for example, respond to a drug in the same way as a patient with diathesis No. 2 (or No. 3, No. 4, or No. 5). Another factor is that the drugs prescribed for a given illness may not necessarily adequately "normalize" a patient's genetically mediated biochemical abnormality.
> Anyway, this issue is moot to me, as these tests are not used outside a research setting. I am not saying they will not be at some point once we have real solid reproducible research. If you have a gene how likly are you to get X ? IF genetic testing says a med will improve something
> will you tolerate it and will it improve long term outcome ?I agree that more research is needed and should continue to be done. But I think this line from earlier in this post best sums up my position on this issue: "I still think that the knowledge of any potential genetic diatheses that contribute to patients' psychiatric illnesses would be a valuable tool for psychiatrists because, in some cases, it would enable them to consider treatments that they might not have otherwise considered."
Tomatheus
Posted by jamestheyonger on November 28, 2005, at 11:54:15
In reply to Re: where to get Serotonin Transporter gene testing? » jamestheyonger, posted by Tomatheus on November 27, 2005, at 23:19:49
> > People on this site say over and over again
> > a more specific Dx does not yield better treatment.
>
> How many people on this site have had their doctors consider genetic testing results as part of their treatment plan?
None. Because there is a lack of information and what research we have is very easily.
I do not see how going on and on about these tests does any good. THEY ARE NOT AVAILABLE
AND/OR INSURANCE DOES NOT PAY FOR THEM. They are not going to be offered just because
we post on a list. I would say they are not offered for good reason as they useful yet, you might have another
reason.
Posted by Tomatheus on November 28, 2005, at 12:40:55
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 28, 2005, at 11:54:15
> > > People on this site say over and over again
> > > a more specific Dx does not yield better treatment.
> >
> > How many people on this site have had their doctors consider genetic testing results as part of their treatment plan?
>
>
> None. Because there is a lack of information and what research we have is very easily.
> I do not see how going on and on about these tests does any good. THEY ARE NOT AVAILABLE
> AND/OR INSURANCE DOES NOT PAY FOR THEM.That was my point. I am absolutely aware of the reasons as to why nobody has received a genetic test as part of their psychiatric treatment, and I don't appreciate your shouting.
> They are not going to be offered just because
> we post on a list.I never said that they would be. I simply offered my opinion that they should be made available. I'm sorry for doing such a terrible thing.
> I would say they are not offered for good reason as they useful yet, you might have another
> reason.I believe that I've already stated my reasons. I respect your position on this issue, but I disagree with you. Once again, I've already stated why I disagree.
Tomatheus
Posted by Tomatheus on November 28, 2005, at 12:43:46
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 28, 2005, at 11:54:15
btw,
I think you've taken the Babblers' statements about specific diagnoses out of context. What I've heard being said over and over again is that a person's diagnosis is less important than getting the right treatment. Improving the quality of treatment - not making a diagnosis more specific - is what genetic testing would be all about.
Tomatheus
Posted by Tomatheus on November 28, 2005, at 13:35:12
In reply to Re: where to get Serotonin Transporter gene testing?, posted by jamestheyonger on November 28, 2005, at 11:54:15
> I do not see how going on and on about these tests does any good.
I am sorry that my posts here are being seen as going on and on about things. I was just trying to help my fellow Babblers by expressing my opinion about the issue, but it seems that my comments here are not helpful.
Posted by jamestheyonger on November 28, 2005, at 13:42:19
In reply to Re: where to get Serotonin Transporter gene testing?, posted by Tomatheus on November 28, 2005, at 12:43:46
> btw,
>
> I think you've taken the Babblers' statements about specific diagnoses out of context. What I've heard being said over and over again is that a person's diagnosis is less important than getting the right treatment.
I've been reading this board since the late 90's
so I think I got it right as I have seen it said again and again.My exprience is the that I have three Dx'1, all NOS. over several decades I have bounced from pdoc to pdoc and all of them say the same thing... DSM codes get your insurance to pay.
This is the end of the thread.
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