Aug. 11: Normality and Variation (required)

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Aug. 11: Normality and Variation (required)

Postby ShawnMiller » Mon Aug 03, 2015 11:04 am

Normality and Variation by Elisabeth A. Lloyd (1994)

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twilliams
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Re: Aug. 11: Normality and Variation (required)

Postby twilliams » Mon Aug 10, 2015 7:55 pm

What strikes me as the most interesting about this issue is what was discussed last week, how variation can be seen as a defect by one scientific perspective, and also be seen just as a mere variation on another perspective. I completely agree with the author that we should not overvalue the importance of genetics, particularly when it comes to issues of variation. The author's example of "Gilbert's disease" was perfect; if it causes no severe health problems, why is it a "disease?" One could try to explain this in terms of proper function, but that requires a perspective that neglects evolution. Technically speaking, are homo sapiens not "defects" of the species that preceded us? If so, does that make us a "diseased" species? That obviously seems silly. I can easily imagine an alternate universe in which the majority of people have reddening in their eyes, and that probably would be accepted as normal.

I tried to find a way around this by thinking "instead of speaking in terms of normal/abnormal and disease/health, can we just assess by how effective the trait is to evolution?" More or less what I mean is, instead of saying subject X is "diseased" for having trait Y, we can say X has trait Y that is helpful for survival and propagation, is not helpful, or is not relevant. This does seem to work...but there is a consequence that the author kind of alluded to. The author brought up homosexuality, and under my suggestion, since homosexuality cannot propagate itself, the conclusion would be that someone who is homosexual has a trait that is not helpful; there still is a negative value judgment attached to a trait that doesn't seem to deserve it (I am not compelled at all to suggest that homosexuality is negative). Yet we still have some notion of negative traits. Is there a way to reconcile this, or no?

lksalinero
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Re: Aug. 11: Normality and Variation (required)

Postby lksalinero » Mon Aug 10, 2015 8:00 pm

I thought this author raised many good points. I was especially interested by the examples she raised about Gilbert’s Disease and Fibrocystic Breast Disease, both “diseases” with no real negative effects on health. I think it is worthwhile to study and try to understand the basis of conditions, syndromes, and phenotypic variations like these; however, I would hesitate to label them “diseases.”

euriekim
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Re: Aug. 11: Normality and Variation (required)

Postby euriekim » Mon Aug 10, 2015 8:42 pm

It's terrifying to think how we could be close to giving people the power to distinguish "normality" from "abnormality" and "diseased" from "healthy". I can easily imagine how it could get out of hand like with women and cosmetics today. Women are taught to believe that aging is ugly and should be covered up with layers of foundation or "anti-wrinkle/aging" products by the media. Therefore, it's disturbing to think how that could also apply to our medical conditions. What would be the grounds on whether something is considered "abnormal" or "unhealthy"?

anjames
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Re: Aug. 11: Normality and Variation (required)

Postby anjames » Tue Aug 11, 2015 7:50 am

I watched a couple videos on insanity before I read this article, which led to me considering what might happen if mental disorders are determined to be "caused" by suites of genes. Ignoring the treatments that could be developed as a result, I'd like to consider how that would affect those who suffer from mental disorders.
On one hand, it might legitimize someone in their pursuit of treatment. The physical proof of disorder could help others acknowledge that they need help. I'm sad to know a few people who think mental disorders are made-up. As a result, they won't reflect on their own mental health states and consider that their symptoms might not be best prayed away. They really might be able to handle their own mental health and that is their decision. But I've seen that behavior affect how people around them seek treatment, delaying or avoiding it due to thinking they aren't experiencing something real. It matters more for the person who wants help.
On the other hand, I feel like "diseasifying" mental disorders might distract us from acknowledging someone's experiences regardless of their genetic predispositions. I don't think it's unreasonable that someone could go through a tough time and want help despite not having an identifiable suite of genes. In that case, wouldn't it be better to focus on social perceptions of mental health directly rather than putting resources into finding genes to back up claims?

eridolfi
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Re: Aug. 11: Normality and Variation (required)

Postby eridolfi » Tue Aug 11, 2015 9:18 am

[quote="anjames"]I watched a couple videos on insanity before I read this article, which led to me considering what might happen if mental disorders are determined to be "caused" by suites of genes. Ignoring the treatments that could be developed as a result, I'd like to consider how that would affect those who suffer from mental disorders.
On one hand, it might legitimize someone in their pursuit of treatment. The physical proof of disorder could help others acknowledge that they need help. I'm sad to know a few people who think mental disorders are made-up. As a result, they won't reflect on their own mental health states and consider that their symptoms might not be best prayed away. They really might be able to handle their own mental health and that is their decision. But I've seen that behavior affect how people around them seek treatment, delaying or avoiding it due to thinking they aren't experiencing something real. It matters more for the person who wants help.
On the other hand, I feel like "diseasifying" mental disorders might distract us from acknowledging someone's experiences regardless of their genetic predispositions. I don't think it's unreasonable that someone could go through a tough time and want help despite not having an identifiable suite of genes. In that case, wouldn't it be better to focus on social perceptions of mental health directly rather than putting resources into finding genes to back up claims?[/
Hello there, this is eridolfi speaking:
As a mental health patient myself, genetic testing is a double edged sword. For example, I have bi-polar disorder. There are many variations of this disease because each person is different so no two people with this condition behave or act the same. Having a confirmed genetic predisposition could influence how people are treated and potentially cause even more psychological damage or social issues because it could cause alienation, fear, patronization or other negative things that could effect someone's life. In a perfect world this wouldn't happen but you never know. ]

pkshah
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Re: Aug. 11: Normality and Variation (required)

Postby pkshah » Tue Aug 11, 2015 9:46 am

Main Points: The significance of the Human genome Project, according to Lloyd, has been significantly oversimplified and overstated. Certainly, the human genome project helps us understand the molecular basis behind diseases; however, not all variations that are present in the genome cause discernibly negative, or harmful effects. These variations in the human genome would not be classified as a disease or an abnormality of any consequence. Furthermore, even if there is a potentially harmful negative variation in the genome, it might not be expressed as to produce a phenotypic result in the body of the individual. Therefore, defining what is normal is extremely important. Furthermore, there is also some debate as to wether addressing the human genome is as important as addressing the physiological and biochemical manifestations of abnormalities as well.

My Thoughts: There are some individuals with a genetic predisposition to disease and wether or not they are expressed or not right now does not mean that they wont eventually be expressed by themselves or their progeny. Furthermore, there are probably people that do not have any of these negative variations and so they will persist throughout the course of time. Could the nature of these diseases be the slow process of the next stages of evolution in humanity? I know this is a bit morbid; however, it seems like over the course of time these genetic predispositions for disease will eventually cause that gene to die out. The genes that are not susceptible to diseases have a larger chance of passing down their genetic code as they live longer. I think the human genome project then could be instrumental in providing a basis for altering human genes in a way that operates in accordance with our humanity and altruistic tendencies. Eventually, if we all get the ability to have children that are genetically healthy, it applies a touch of humanity to the otherwise harsh and unfair reality of nature (those with unhealthy genes will eventually get weeded out as their genes get expressed phenotypically).

Bowen Tan
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Re: Aug. 11: Normality and Variation (required)

Postby Bowen Tan » Tue Aug 11, 2015 10:08 am

I think gene mutation can be regarded as a neutral variation. Sometimes it seems that it is the environment which causes the structure of genome changing. But the gene mutation might be existing all the time and keep a neutral variation. The neutral variation means that it can not be simply defined as a positive or negative gene behavior due to the structure and function itself. Only the environment may tell the phenotype whether it is adjusted to. If not, it is a negative variation. From this point, some kinds of diseases can be thought as unadjusted to the environment. If the environment changes into an appropriate one, the person thought with disease might be normal.

One thing to discuss further is, actually, variation is an eternal behavior. Everything keeps motions, including the genome. Sometimes the way we discriminate normality and variation should not only focus on the various part of the gene, but also focus on some silent or invariant genes.

nyonan
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Re: Aug. 11: Normality and Variation (required)

Postby nyonan » Tue Aug 11, 2015 10:46 am

twilliams wrote:What strikes me as the most interesting about this issue is what was discussed last week, how variation can be seen as a defect by one scientific perspective, and also be seen just as a mere variation on another perspective. I completely agree with the author that we should not overvalue the importance of genetics, particularly when it comes to issues of variation. The author's example of "Gilbert's disease" was perfect; if it causes no severe health problems, why is it a "disease?" One could try to explain this in terms of proper function, but that requires a perspective that neglects evolution. Technically speaking, are homo sapiens not "defects" of the species that preceded us? If so, does that make us a "diseased" species? That obviously seems silly. I can easily imagine an alternate universe in which the majority of people have reddening in their eyes, and that probably would be accepted as normal.

I tried to find a way around this by thinking "instead of speaking in terms of normal/abnormal and disease/health, can we just assess by how effective the trait is to evolution?" More or less what I mean is, instead of saying subject X is "diseased" for having trait Y, we can say X has trait Y that is helpful for survival and propagation, is not helpful, or is not relevant. This does seem to work...but there is a consequence that the author kind of alluded to. The author brought up homosexuality, and under my suggestion, since homosexuality cannot propagate itself, the conclusion would be that someone who is homosexual has a trait that is not helpful; there still is a negative value judgment attached to a trait that doesn't seem to deserve it (I am not compelled at all to suggest that homosexuality is negative). Yet we still have some notion of negative traits. Is there a way to reconcile this, or no?


I was thinking along the same lines myself. Disease implies negative or detrimental traits that cause pain and/or stunted life/development. At the same time, I would say that disease is a part of evolution that is necessary. Because mutations occur once in a while they're beneficial and then they are passed on because the detrimental ones died out, but we have society which inhibits that interaction. And my definition of "normal" is not so much ideal function (because we can't actually know what ideal function is, we're not perfect beings) but more so the "greatest common function". Normal is whatever is most commonly seen. I actually find it kind of funny that humans will soon be attempting to guide our own evolution with the use of genetic engineering, thinking with such hubris that we will overcome nature. While I do agree that it's a good idea to attempt to stop fatal mutations if possible, I cannot see how there won't be some sort of natural backlash to balance things out.

herrerajen
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Re: Aug. 11: Normality and Variation (required)

Postby herrerajen » Tue Aug 11, 2015 10:53 am

Throughout the article, Lloyd critiques the ways diseases can be differently classified on 4 different biological levels (medical, cellular, physiological, organismic). I was particularly drawn to the fibrocystic breast disease example. In the beginning of the article, Lloyd defines diseases as "states of malfunction, disturbance, and abnormality" (p.100). It seems as though fibrocystic breast disease does not fit into the first two definitions of disease. For example, on a medical and physiological level, this disease is 'normal' for adult women and it is so common approximately 45 percent of the female population over the age of thirty-five have it. This condition does not impede or alter the function of the breasts; yet, it is still understood as a disease. Lloyd argues that it is because of the cellular level analysis that this disease is considered abnormal.

After reading the article I'm interested and curious to know what Lloyd would classify as a condition as opposed to a disease.

ktoporovskaya
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Re: Aug. 11: Normality and Variation (required)

Postby ktoporovskaya » Tue Aug 11, 2015 11:05 am

Elisabeth Lloyd brings up philosophical issues with the genome project. Her concern is that a disease will be determined by comparing a perfect organism to others. By looking at the genome we can set standards of what is normal or abnormal. She believes that this issue will impact the way we treat and see disease. She brought up scientific theories but i was not sure what those were. I think the benefits of genome projects she discussed outweigh her ethical concern.

lgomez
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Re: Aug. 11: Normality and Variation (required)

Postby lgomez » Tue Aug 11, 2015 11:15 am

I found that Lloyd has very good points about what scientists consider a disease. Especially the case about fibrocystic breast disease. But this piece reminded me also of how some things we consider normal may have been abnormal in the past. For example, the trait giving a human 6 fingers is dominant to the trait giving five fingers. But looking around, we might not ever guess that such a trait existed. Our perception of normal is limited to what we experience on a day to day basis so whereas something like a six fingered person could with time become the new normal, right now it's seen as strange.

However I still value looking at the genome for hints at conditions or diseases, simply because it's a tool. Granted, it's not an end all be all of diagnosis, but it can be useful, although people play up its significance. Just having an idea of what might happen is a great tool in preparation.

Nancy Galeno
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Re: Aug. 11: Normality and Variation (required)

Postby Nancy Galeno » Tue Aug 11, 2015 12:08 pm

I think that the author does a good job in being specific about the concept of “normal” or “abnormal”. A good point that she makes in explaining this is: "States of organisms do not announce themselves as desirable or undesirable, healthy or diseased, normal or abnor- mal; such classifications are inevitably applied by comparing the state of the organism to some ideal which serves a normative function. Where does this ideal come from?” I believe that the author does make a good argument in saying that claims that the Human Genome Project is the key to understanding “human nature” is misleading. This is because not everything that happens to a human has to do with genetics, it also has to do with environment and a mixture of both together. Also, there are different definitions of “abnormality”. As the author states, "What is abnormal under the biochemical model is not necessarily abnormal under a medical model.” Simply having what is considered an “abnormal” gene does not mean that it will have an effect on human performance, sometimes it is the environment together with the “abnormal” gene that triggers a disease. Also, there is a misunderstanding when it comes to "abnormality” because what is considered “normal” to one group of people might not be considered that way for the next.

dianalee
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Re: Aug. 11: Normality and Variation (required)

Postby dianalee » Tue Aug 11, 2015 12:16 pm

Elisabeth Lloyd presented many philosophical issues concerning determination of what normal and abnormal, health and disease.It was very interesting to see various scientific aspects need to be account for in consideration of what make disease. I personally was drawn to the kidneys example she used. Improper functioning of kidneys can be followed by a number of problems, not just kidney disease. She showed determining normal and abnormal are not so simple throughout the article.

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KelseyBS
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Re: Aug. 11: Normality and Variation (required)

Postby KelseyBS » Tue Aug 11, 2015 12:35 pm

I really liked this article. It not only took the idea of normal and rejected it, but showed the problems it creates and gave a better idea (proper or adequate functioning) to go by. It also shows us that social ideas are not separate, but mixed in with scientific practices. Our culture is not developed separately from our education in science and science is not studied without the intervention of our culture. Often cultural and scientific ideas get mixed. The HGP is important, but should be approached with caution and human culture considered.

fdtran
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Re: Aug. 11: Normality and Variation (required)

Postby fdtran » Tue Aug 11, 2015 12:46 pm

I found Lloyd's discussion of the differences between the normal and the abnormal to be quite interesting. I liked how much of the reading articulates the ethics issues with the HGP and rejects our cultural definition of "normal". I personally never thought about the social implications that comes behind the word 'disease' and how those who are considered 'abnormal' could be negatively impacted by those of us who condemn them for variations in our biological make up. I found Lloyd's conclusion to be especially interesting that we should use the HGP as a tool to study variation itself rather than "enforcing codes of normality".

tschristoffel
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Re: Aug. 11: Normality and Variation (required)

Postby tschristoffel » Tue Aug 11, 2015 1:17 pm

The nature of "abnormality" presents a rather confusing problem for the medical benefits of the HGP. Lloyd is correct when she points out the highly subjective nature of what is considered "abnormal." However, this is not to to say that the HGP is completely useless. Take for instance Lloyd's example of the "gene for arteriosclerosis":

Suppose that a person learns she has "the gene for arteriosclerosis" and modifies her diet and exercise regime as a result. We cannot say she
will develop arteriosclerosis; in fact, having changed her environmental circumstances, she may well have a reduced probability of developing arteriosclerosis in comparison to the population at large. The point is that having a gene for something does not imply having that phenotype. "Abnormal" genes may or may not yield "abnormal" or "diseased" organisms.

Even if phenotype is heavily dependent on the environment, genomic information is still useful as it can affect the choices we make, and thus the environment, which in turn influences our phenotype.

msnelmida
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Re: Aug. 11: Normality and Variation (required)

Postby msnelmida » Tue Aug 11, 2015 1:26 pm

I find the notion of claiming which is normal and abnormal based on genetic variation to be interesting. There are two examples in which Lloyd uses one is "Gilbert's disease" which is a genetic variation that deem to not have any effects on a person's overall health and interaction with the environment. The other is sickle cell anemia which is caused only by one difference in the nucleotide sequence which in overall can have dangerous results depending on how the person interact with the environment. Both is considered to be abnormal and both considered to be a disease but yet both seemingly have very dramatic differences on its effects overall. I do notice there is a problem with using terms and comparing it to one another but I think the usage of normal and abnormal by Lloyd example can still be interpreted in a different way. Normal can still be seen as what it is socially which just the "majority", the "average", the "usual". Abnormal can just be interpreted as a variation of what is defined socially as normal and not include in any negative connotation behind it. The problem with this is that abnormal had historically always had a negative connotation behind it socially. Another one to consider possibly is to add in the social and environmental effects of such variation then analyze its harmful effects overall to differentiate it from Gilbert's disease to something like sickle cell anemia. If such variation will be expressed in someone's life time and will likely cause harm to the person's overall health at most situations then we can clearly claim such variation as a disease.

pattyt
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Re: Aug. 11: Normality and Variation (required)

Postby pattyt » Tue Aug 11, 2015 1:36 pm

I agree with the what some of my peers are saying in that it would be a great advantage to be able to know what disease a person is carrying. People would be able to get treatment and help that suits their needs. On the other hand, this can be a basis for categorization. Once it is known that a person has a certain disease they can be labeled and set apart from others. Where would the labeling end?

Selestine
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Aug. 11: Normality and Variation (required)

Postby Selestine » Tue Aug 11, 2015 1:38 pm

I didn't understand the author when she said, "... that it would be a major scientific advance, and a significant relief to be able to understand disease and proper function on the molecular level..." As of now, what level are the scientist conducting research on diseases? And is the technology available already for the research on disease to be done on the molecular level?

jjquintanilla
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Re: Aug. 11: Normality and Variation (required)

Postby jjquintanilla » Tue Aug 11, 2015 1:48 pm

The reading was interesting as a whole because it brings to surface the issue of defining something as "normal" and others as "abnormal." Though different fields or different perspective view a genetic difference such as abnormal; specifically, those in the field of Biochemistry. Others in a different may recognize these genetic difference but may may not regard them as completely abnormal; specifically those who are in the field of medicine who may consider the development of tumors as the cause of genetic alteration, but are not considered a health risk if they are benign. Hence, the notion of normal is define differently in separate fields. However, although the reading presented information on what society may consider normal, it was also interesting how Lloyd presented information regarding population genetics. I feel that if more information were to be presented on this field and how scientist within the field of ecology and evolution define normal, it would add the notion of the "proper" functional dynamics of genes. This is because in the field of evolution, variation: the result of mutation in the DNA which results in a perhaps a new phenotype, is a natural occurrence for new species to emerge. Hence, the entire perception of mutations the cause of abnormalities, may in fact be the expected and normative results in one field.

JustinN
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Re: Aug. 11: Normality and Variation (required)

Postby JustinN » Tue Aug 11, 2015 1:55 pm

I think the author's concern of our society's desire to find an ideal form is an appropriate preface to the topic of genetic engineering. In the realm of experimenting on anything not human, do we ever reach a plant, animal or bacteria that is normal or are we engineering them for our own personal gain. And for humans, our views of perfection seem just as flawed. It's as if we're trying to imagine a perfect human and everybody has a different picture in their heads.

lemacias
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Re: Aug. 11: Normality and Variation (required)

Postby lemacias » Mon Aug 17, 2015 1:20 pm

One of our biggest mistakes is to believe that the HGP and other projects involving molecular data will solve our health problems or gives us everything (all the information) that we need in order to understand the human body. What I like about this reading is the approach that we need to take in DNA descriptions, a more holistic understanding of how this piece of the big puzzle can help us solve our questions but not all of them. Social, political, economic, educational and cultural models have to be taken into account for this information to cover all the spectrum of what it really means to be "normal" or a "healthy" individual.


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