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Online Essay Club: Essay No. 1 of 10

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Starting from today, one essay question will posted each week on this forum. This will last for 10 weeks, ending two weeks before the Part II written exam. The questions will be topical and designed to encompass a wide range of knowledge. If you wish to contribute your own thoughts on the questions, please do so.

Q: 'Recent advances in the field of genetics offer hope to sufferers of mental illness. Discuss.'

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Dear All

The following is an essay plan , I have put in a few references but would be grateful to any suggestions


-Entering New millenium with Genome project

-Implications of new genetic Advances have been viewed as both 'nirvana and nightmare'

2)Arguments for possible benefits

-Increased understanding of aetiology may lead to improved classification

-Respone to and side effects may be better understood

-Prevetative stratergies may arisee.g mutations identified in early onset alzheimers include those for APP.Presenilin 1 and 2

-Increased understanding may lead to destigmatisation

3)Arguments for possible risks

-View is to simplistic

-If screening were available would therapeutic terminations be argued for?

-If violence viewed as genetically determined it may absolve role of society

-Employers?mortgage lenders may use information to discriminate


-Huge potential for benefit but patients would need protection

-Need open debate on risks and benefits and would need regulation and legislation


A)Clinical implications of psychiatric genetics in new millenium,Jones et al ,Psych Bullet,2001

B)Neurogentic determinism and the new euphemics,Rose,BMJ,1998

C)Shoter oxford textbook of psychiatry,Gelder et al ,2001


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Hi Johnny

There are some very good points there. I'm just going to write down some ideas and then try to incorporate them into the structure of the essay at a later point.

The essay title uses the word hope - which means we can offer benefits that will develop in 10 or 20 years - so we don't have to worry about immediate benefits. The other important facet of this is that it mentions recent advances - so i'll have to try and look at the recent literature in more detail. Meanwhile here are some points

1. To see how genetics is going to affect psychiatry in the future it strikes me that the first question we should be asking is how does genetics affect psychiatry now.

2. In my (relatively limited) experience in psychiatry I have only seen genetics talked about in two areas - in patients with or suspected of having learning disabilities and in patients with Huntingdon's disease

3. In learning disabilities, chromosome analysis is almost routine.

4. What benefit does this afford to the patients?

a. Identifies syndromes - medical problems can be prevented/treated - reduces mortality/morbidity i.e. psychiatric diagnosis (ICD-10) indirectly leads to reduction in mortality - I suspect one e.g. would be Fragile X - but i'll have to look up the medical complications at a later point. This is one of the benefits of classification (perhaps there are other benefits)

b. If syndromes are identified then response of depression/psychosis to particular antidepressants/antipsychotics in those syndromes may be identified in trials

c. As you mentioned side effects of drugs in particular syndromes may be discovered.

5. Going on to side effects I think a few examples would be quite useful - again i'll have to look this up but I think genetic variations in some of the liver enzymes is of particular relevance and that this is a trendy area at the moment

6. Huntingdon's increases the likelihood of a number of psychiatric conditions and can be used as an example of how knowledge of a gene abnormality improves the prediction of psychiatric illness in an individual (well of course its a bit debatable) so i'll look up the facts and get back with this.

7. I strongly suspect that genetics is a going to play a very strong role in neurology (as in 6) and that this is then going to spill over into psychiatry (as above)

8. We might be able to shift psychiatric problems over into the neurology arena i.e dissociative states - now the really important paper in this field is the study of patients with conversion disorders who ended up developing neurological disorders - ill get that reference

9. Gene therapy is going to be incredibly important - i'm not sure what is being talked about presently. But one idea is in dementia, if you could get cells in the basal forebrain etc to express nerve growth factors you might have a therapy in the long term. With regards to this it is worth mentioning retroviruses/adenoviruses/liposomal therapy. Two questions at this point

a. Are there any other mechanisms of delivering genes into cells

b. Are there any other areas in psychiatry where gene therapy is being discussed in the future

Maybe a medline search will flag this up - i'll get back with this

10. Along similar lines to point 4.b identification of genotype - with particular reference to receptor subtypes may then predict response to various psychotropic medications/Psychotherapy/TMS/ECT

Actually this might be tricky and again I would be grateful if anyone could answer the following question

- Which cells are used for genetic analysis? Differential expression of genes may mean that it is necessary to sample brain tissue in order to develop relevant genotypic profiles

Anyway if I have any more ideas i'll post them here


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Here is some information to support the above points

4a. Fragile X - tests for FX have been available for some time but a study in the Journal of Medical Screening 1997 commissioned by the government concluded that testing for fx should be included in a national screening program. It affects 1/4000 boys, 1/8000 girls. One mentioned benefit was that children with fx find it difficult to learn in large groups and benefit from one to one teaching.

Antenatal screening brings up other issues but is relevant since the number of triplet repeats indicates the probability of transmission

Turk and Sales, 1996, Child Psychol Psychiatr Rev, found that early behavioural interventions in some children with fx produces benefit.

Associated with floppy ears, prognathism, macrorchidism, hypertelorism, blue eyes, single palmar crease

Sudden cardiac death in elderly fx pt's reported. Good evidence for increased prevalence of Mitral regurgitation, aortic dilation and other cardiac abnormalities.

6. Examination notes in psychiatry - Buckley et al: In Huntingdon's Chorea

a. 'Psychiatric illness may precede chorea'

b. 'Personality change often realized retrospectively'

c. Psychotic disorders particularly paranoid psychosis

d. Global dementia

e. High rate of suicide amongst 'unaffected' relatives

8. Slater, 1965 was the important study in which 85 pts diagnosed hysterical were followed up. After 9 years 33% had developed organic disease since initial assessment. 12 patients died. In 3 the sx were the same as at initial assessment. Of those that didn't develop organic illness 33% developed serious psychiatric illness. However this study took place in a tertiary referral centre indicating a slightly atypical population.

I will try and integrate the above into your essay plan at a later date unless you beat me to it :D



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