Genetic Test Essays Prompts

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Genetic Privacy Can We or
PAGES 2 WORDS 676

Choose ONE of the proposed topics below. The paper should be a minimum of two pages and requires a minimum of two solid sources. Grammar and spelling are included in the evaluation for grade determination.

Can we??"or should we??"ensure genetic privacy?

Who should have access to genetic material that has been collected, and is that access in tandem with the original purpose for which the DNA was collected? (For example, are newborn screening samples also used for law enforcement purposes, etc.)

In years gone by, if colon cancer ran in your family all you could do was wait and worry about whether you might get it, too. Today a genetic test can determine whether you have inherited a greater-than-average risk of the disease and so could benefit from preventive care. What ramifications can result because of the test?

Genetic Testing and Insurance
PAGES 2 WORDS 658

Specific: Essay paper no quotations or parenthetical citations or footnotes needed. Talk about two or three key points in the Article. Article details provided below. Key point: should insurance companies be allowed to use genetc testing to determine eligibility for insurance and/or to set premiums; Key point: Privacy of individuals, discrimation and ethics as related to protecting access to health insurance. Talk about the Principle of Utmost Good Faith and how parties to an insurane contract are hed to a higher standard of honesty than parties to a non-insurance contact. Is it ethical or breach of contract for that party? Or is it Innocent mispresentation of material fact? What if the party is ingnorant of their family history or simply not aware of details. Briefly mention the purposed of acquiring insurance.

Genetic Testing and Insurance, Insurance is a business that depends on predicting health risks and setting premiums to account for them and so insurers are very likely to be interested in genetic testing for indivdulas. The question is whether and under what conditions genetic testing out to be allowed.
Setting premiums by predicting risk, the insurance business attemps to set premiums at levels that allow payment for all legitimate claims with money left over every year as profit. To do this, insurance companies do their best to understand the cossts they will bear if they agree to cover individuals wo will make up the group whose risks are pooled. Health disability and life insurance offer protectionfrom the real costs of health care, premature death, and dsability by collecting premiums from may people but paying large claims on only a few. Premiums are set using informatin about individual's health, lifestyle, family history, and diagnostis tests for everything frm drug screening and heart monitoring to HIV tests. Genetic testing may add to the predictive infrmation available to insurers, but at what costs both to them and to those they insure. Genetic testing is expensive and in most cases can only provide limited information about the risk of disease since ther are so many factors; genetic and otherwise that determine who will get sick and when. And it can be used to determine access to insurance or to justify increased premiums, which may result in necessary coverage being denied to individual and their familes.
Protecting accessto health insurance, because of the importance of heath isurance almost half the states and a recent federal law now bar large health insurers from using genetic testing to discriminate against individual because they may develop a disease in the future. The argument is that health insurance is so important that it should be treated as a community resource, with individuals' risk shared across the pool of all who are covered. It makes sense to treat health insurance in this way because of the special nature of health care. Bu what abut life and disability insurance? Lilfe and disability insurance ca be seen as optionals as comparted to health insurance, ad so we might be more willing to treat them differently. But if genetic testing were used to deny insurance or to set very high premiums for death or disability caused by the predicted disease< ten it hardly makes sense to buy coverage> the irony is that insurance would be denied for jsut he possibility that insurance is meant to cover the likelihood of premature death or disability

Singled out by science, even so, using genetic testing t distinguish individulas might make sense if it were really able to single outthos truly at greater genetic risk. In fact we all carry some assortment of genetic defencts, but for most of us science has yet to discover our paticular defects or test to identify them. Since genetic tests are available for only a fraction of the diseases that likely have at least a genetic component, it is unfair to single out those people affected by the few diseases for which we now can test. Until a critical mass of genetic information has been discovered and test to asses it have been developed, it is unfair to allow the inequitable use of genetic testing to decide who whould have access to insurance ans what its cost should be.


There are faxes for this order.

B Week 7 Discussion Topics 1 & 2 and 3


Please answer the following questions. Please write a well-developed answer for each question.


TOPIC 1:
Many infertile couples turn to in vitro fertilization to try to have a baby. In this technique, sperm and egg are collected and used to create eight-cell embryos for implantation into a woman?s uterus. At the eight cell stage, one of the fetal cells can be removed without causing harm to the developing fetus. Once removed, the cell can be genetically tested. Some couples may know that a particular genetic disease runs in their family. They might wish to avoid implanting embryos with the disease-causing genes. What if couple wanted to use genetic testing to select embryos for traits unrelated to disease, such as freckles or may be to select a gender.

Do you think that couples undergoing in vitro fertilization should be allowed to perform whatever genetic tests they wish? Or do you think that there should be limits on what tests can be performed?

TOPIC 2:
Although it is strongly suggested that a woman not drink alcohol during her entire pregnancy, why is this advice particularly important during the first semester?

TOPIC 3:
Young Liam, a male, is afflicted with a muscle wasting disease. His mother's two brothers also had the disease. No other family members (his father, his father's relatives, his mother, or his mother's female relatives) have the disease. Is this muscle wasting disease (A) autosomal or sex-linked, and (B) dominant or recessive? Defend your answers.

Burlington Northern Railway recently settled a major and some say groundbreaking case on genetic screening in the workplace.

A quote from their website...

BNSF and EEOC Settle Genetic Testing Case Under Americans with Disabilities Act
FORT WORTH, Texas, May 8, 2002 -- The U.S. Equal Employment Opportunity Commission (EEOC) and The Burlington Northern and Santa Fe Railway Company (BNSF) today announced a mediated settlement for $2.2 million of EEOC?s lawsuit which alleged that BNSF violated the Americans with Disabilities Act of 1990 (ADA) by genetically testing or seeking to test 36 of its employees without their knowledge or consent. The genetic test was part of a comprehensive diagnostic medical examination that BNSF required of certain employees who had filed claims or internal reports of work-related carpal tunnel syndrome injuries against the Company.

Answer this Question in your case study:
Was the settlement at BNR fair?

On the web you can read....

Railroad Agrees to Stop Gene-Testing Workers
By Sarah Schafer

Washington Post Staff Writer
Thursday, April 19, 2001; Page E01

you can also read:

Railroad to pay $2.2 million over genetic tasting
David Hechler. National Law Journal. New York: May 13, 2002. Vol. 24, Iss. 36; p. A22


National Briefing Washington: Accord On Genetic Tests
Tamar Lewin (NYT). New York Times (Late Edition (East Coast)). New York, N.Y.: May 9, 2002. p. A.28

Topic: Huntington's Disease/ Huntington's chorea

CSE format

minimum of 2 electronic and 2 paper resources
address 8 questions/areas based on research:
1 What is it?Provide a picture and a written description of the disorder. You may also choose to insert a video describing the disorder in this section.
2 What causes this disorder? What genes & chromosomes are linked to this disorder? Provide a chromosome map showing what gene is affected. If there is a mutation is it an insertion, deletion, or subtraction?
3 Who is affected by this disorder? How many people are affected in the USA? How many people are affected worldwide? What age group is most affected? Does it occur more frequently in males than females? What is the survival rate for this disorder? You may choose to include graphs showing the populations affect?
4 What are the symptoms & how soon do they appear? Provide pictures and a written description of symptoms. You may also choose to insert a video describing the symptoms in this section.
5 How is the disorder detected or diagnosed? Describe the clinical or laboratory tests used to detect or diagnose the disorder. Is there a genetic test for this disorder?
6 How is the disorder treated? What types or drugs or therapies are used for treatment? Does treatment involve physical or speech therapy, or does it require surgery?
7 What type or current research is being conducted on this disorder?Are there any clinicaltrials being conducted on this disorder? If so, describe what these trails are investigating.
8 Source of information Include a list of at least 2 written sources & 2 websites in CSE format used to obtain information for your webpage.
Minimum 4 written pages (not including pictures or bibliography)
12pt font
1 inch margins
1.5 spacing

Topic: Huntington's Disease/ Huntington's chorea

Topic: Down Syndrome

CSE format
minimum of 2 electronic and 2 paper resources
address 8 questions/areas based on research:
1 What is it?Provide a picture and a written description of the disorder. You may also choose to insert a video describing the disorder in this section.
2 What causes this disorder? What genes & chromosomes are linked to this disorder? Provide a chromosome map showing what gene is affected. If there is a mutation is it an insertion, deletion, or subtraction?
3 Who is affected by this disorder? How many people are affected in the USA? How many people are affected worldwide? What age group is most affected? Does it occur more frequently in males than females? What is the survival rate for this disorder? You may choose to include graphs showing the populations affect?
4 What are the symptoms & how soon do they appear? Provide pictures and a written description of symptoms. You may also choose to insert a video describing the symptoms in this section.
5 How is the disorder detected or diagnosed? Describe the clinical or laboratory tests used to detect or diagnose the disorder. Is there a genetic test for this disorder?
6 How is the disorder treated? What types or drugs or therapies are used for treatment? Does treatment involve physical or speech therapy, or does it require surgery?
7 What type or current research is being conducted on this disorder?Are there any clinicaltrials being conducted on this disorder? If so, describe what these trails are investigating.
8 Source of information Include a list of at least 2 written sources & 2 websites in CSE format used to obtain information for your webpage.
Minimum 4 written pages (not including pictures or bibliography)
12pt font
1 inch margins
1.5 spacing

Cancer Epidemiology
PAGES 13 WORDS 3706

W8A1: Carefully read the syllabus for instructions on the final project, which includes the abstraction template and the review paper. Choose a primary genetic epidemiology study for your final paper. The article must be no older than 3 years. If you see that a classmate has already chosen the same article, please choose a different article. Download the abstraction template in the Course Information area and make sure that your article will provide you with the information you need to fill this out. Note: This is an important prequel to your final paper. If your abstraction Template demonstrates that an inappropriate article was chosen, you will be required to submit another.

1. Provide an attachment with your full text article to the discussion board. You may wish to post this early to help others avoid redundancy.

2. Fully fill out the template and provide it as a second attachment, in a reply to your article posting (this will keep it in the same thread). Your article may provide more than one category of gene information. However, you should only choose those for which the article was clearly designed to study. You are free to copy and paste information from the article into the template. This should include tables where appropriate. Note: This is probably the ONLY time that you are given free rein to copy! The idea is to be able to pick out the required information from the article.

Although you are placing a copy on the board for your peers, please also place a copy of your abstraction in the Dropbox so that your instructor may make comments on it and return it to you.

Evaluate the article for methodology issues and bias, utilizing the principles discussed in the required readings. Do you see any potential for selection, information, confounding, or any other type of bias? Place these in the comments section. Due day 4



Article Title for abstraction template


Abstraction Template

Key variables and description Article
Reference
Complete the bibliographic reference for the article according to AJE format.
[First Author Last Name] [First Name Initial], et al. [Title of Journal Article]. [Journal Title]. [Year] Month;volume(issue):pages.
Category of HuGE information

Specify the types of information (from the list below) available in the article:
1. Prevalence of gene variant
2. Gene-disease association
3. Gene-environment interaction
4. Gene-gene interaction
5. Genetic test evaluation/monitoring
Study hypotheses or purpose

State the authors study hypotheses or main purpose for conducting the study.

Gene(s)

Identify the following:
Gene name
Chromosome location
Gene product/function
Alleles
OMIM # Gene name:
Chromosome location
Gene product/function
Alleles:
OMIM #:

Gene name: [Repeat for second gene, if applicable]

Environmental factor(s)
Identify the major environmental factors studied (infectious, chemical, physical, nutritional, and behavioral).
[List numerically]
Health outcome(s)

Identify the major health outcome(s) studied.
[List numerically]

Study design

Specify the types of study designs (from the list below) in the article:
1. Case-control
2. Cohort
3. Cross-sectional
4. Descriptive or case-series
5. Clinical trial
6. Population screening [Insert all that apply]

Case definition

For study designs 1, 4, and 5, define the following if available:
Disease case definition
Exclusion criteria
Gender
Race/ethnicity
Age
Time period
Geographic location
Number of participants (% of total eligible)
[Note: Depending on the study design being discussed, this cell may not apply]
Disease case definition:
Exclusion criteria:
Gender:
Race/ethnicity: [if not specified, insert not specified]
Age:
Time period:
Geographic location: [if not specified, insert not specified]
Number of participants: N (% of total eligible)


Control definition

For study design 1, define the following if available:
Control selection criteria
Matching variables
Exclusion criteria
Gender
Race/ethnicity
Age
Time period
Geographic location
Number of participants (% of total eligible)
[Note: Depending on the study design being discussed, this cell may not apply]
Control selection criteria:
Matching variables:
Exclusion criteria:
Gender:
Race/ethnicity: [if not specified, insert not specified]
Age:
Time period:
Geographic location: [if not specified, insert not specified]
Number of participants: N (% of total eligible)
Cohort definition

For study designs 2, 3, and 6, define the following if available:
Cohort selection criteria
Exclusion criteria
Gender
Race/ethnicity
Age
Time period
Geographic location
Number of participants (% of total eligible)
[Note: Depending on the study design being discussed (i.e. case control), this cell may not apply]
Cohort selection criteria:
Exclusion criteria:
Gender:
Race/ethnicity: [if not specified, insert not specified]
Age:
Time period:
Geographic location: [if not specified, insert not specified]
Number of participants: N (% of total eligible)

Assessment of environment factors

For studies that include gene-environment interactions, define the following if available:
Environmental factor
Exposure assessment
Exposure definition
Number of participants with exposure data (% of total eligible)
Environmental factor:
Exposure assessment:
Exposure definition:
Number of participants with exposure data: N (% of total eligible)

Environmental factor: [Repeat for additional environmental factor, if applicable]

Genotyping

Specify the following:
Gene
DNA source
Methodology
Number of participants genotyped (% of total eligible)
Gene:
DNA source:
Methodology:
Number of participants genotyped: N (% of total eligible)

Gene: [Repeat for each additional gene, if applicable]

Analysis
Comment on the analysis carried out by the author(s). E.g. matching, modeling or statistical test used. Were the analyses appropriate?
Results

Describe the major results under each of the following HuGE categories. Include tables when data are provided:
1. Prevalence of gene variant
2. Gene-disease association
3. Gene-environment interaction
4. Gene-gene interaction
5. Genetic test evaluation/monitoring
Conclusion

State the authors overall conclusions from the study.

Comments

Provide additional insight, including methodologic issues and/or concerns, about the study.

Born to Be Big Childhood
PAGES 6 WORDS 2102

Important Instructions:

6 exclusive of the title page and reference pages. -- even in the references section.

Paragraphs should have NO spacing between them -- set that to "0" in the paragraph formatting area of Word.

The lines should be double-spaced all the way through

My Article:
Born to be big
BORN TO BE BIG.
Authors:
Begley, Sharon
Source:
Newsweek; 9/21/2009, Vol. 154 Issue 12, p56-62, 4p
Document Type:
Article
Subject Terms:
*OBESITY in children
*INFANTS -- Growth
*OBESITY
*METABOLISM
*PESTICIDES
*MEDICINE -- Research
RISK factors
NAICS/Industry Codes:
541712 Reseach and Development in the Physical, Engineering, and Life Sciences (except Biotechnology)
325320 Pesticide and Other Agricultural Chemical Manufacturing
People:
BAILLIE-Hamilton, Paula
Abstract:
The author discusses the causes of obesity in the U.S. and says that obesity in infants has increased significantly since 1980. In 2002 medical researcher Paula Baillie-Hamilton published a paper that showed a correlation between pesticides and infant obesity. Since then, many medical practitioners have found that some pesticides contain chemicals called obesogens that can alter metabolism rates.
Full Text Word Count:
2526
ISSN:
00289604
Accession Number:
44194129
Database:
Academic Search Complete
HTML Full Text
BORN TO BE BIG
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Section: HEALTH | ENVIRONMENT
EARLY EXPOSURE TO COMMON CHEMICALS MAY BE PROGRAMMING KIDS TO BE FAT
It's easy enough to find culprits in the nation's epidemic of obesity, starting with tubs of buttered popcorn at the multiplex and McDonald's 1,220-calorie deluxe breakfasts, and moving on to the couch potatofication of America. Potent as they are, however, these causes cannot explain the ballooning of one particular segment of the population, a segment that doesn't go to movies, can't chew, and was never that much into exercise: babies. In 2006 scientists at the Harvard School of Public Health reported that the prevalence of obesity in infants under 6 months had risen 73 percent since 1980. "This epidemic of obese 6-month-olds," as endocrinologist Robert Lustig of the University of California, San Francisco, calls it, poses a problem for conventional explanations of the fattening of America. "Since they're eating only formula or breast milk, and never exactly got a lot of exercise, the obvious explanations for obesity don't work for babies," he points out. "You have to look beyond the obvious."
The search for the non-obvious has led to a familiar villain: early-life exposure to traces of chemicals in the environment. Evidence has been steadily accumulating that certain hormone-mimicking pollutants, ubiquitous in the food chain, have two previously unsuspected effects. They act on genes in the developing fetus and newborn to turn more precursor cells into fat cells, which stay with you for life. And they may alter metabolic rate, so that the body hoards calories rather than burning them, like a physiological Scrooge. "The evidence now emerging says that being overweight is not just the result of personal choices about what you eat, combined with inactivity," says Retha Newbold of the National Institute of Environmental Health Sciences (NIEHS) in North Carolina, part of the National Institutes of Health (NIH). "Exposure to environmental chemicals during development may be contributing to the obesity epidemic." They are not the cause of extra pounds in every person who is overweight--for older adults, who were less likely to be exposed to so many of the compounds before birth, the standard explanations of genetics and lifestyle probably suffice--but environmental chemicals may well account for a good part of the current epidemic, especially in those under 50. And at the individual level, exposure to the compounds during a critical period of development may explain one of the most frustrating aspects of weight gain: you eat no more than your slim friends, and exercise no less, yet are still unable to shed pounds.
The new thinking about obesity comes at a pivotal time politically. As the debate over health care shines a light on the country's unsustainable spending on doctors, hospitals, and drugs, the obese make tempting scapegoats. About 60 percent of Americans are overweight or obese, and their health-care costs are higher: $3,400 in annual spending for a normal-weight adult versus $4,870 for an obese adult, mostly due to their higher levels of type 2 diabetes, heart disease, and other conditions. If those outsize costs inspire greater efforts to prevent and treat obesity, fine. But if they lead to demonizing the obese--caricaturing them as indolent pigs raising insurance premiums for the rest of us--that's a problem, and not only for ethical reasons: it threatens to obscure that one potent cause of weight gain may be largely beyond an individual's control.
That idea did not have a very auspicious genesis. In 2002 an unknown academic published a paper in an obscure journal. Paula Baillie-Hamilton, a doctor at Stirling University in Scotland whose only previous scientific paper, in 1997, was titled "Elimination of Firearms Would Do Little to Reduce Premature Deaths," reported a curious correlation. Obesity rates, she noted in The Journal of Alternative and Complementary Medicine, had risen in lockstep with the use of chemicals such as pesticides and plasticizers over the previous 40 years. True enough. But to suggest that the chemicals caused obesity made as much sense as blaming the rise in obesity on, say, hip-hop. After all, both of those took off in the 1970s and 1980s.
Despite that obvious hole in logic, the suggestion of a link between synthetic chemicals and obesity caught the eye of a few scientists. For one thing, there was no question that exposure in the womb to hormonelike chemicals can cause serious illness decades later. Women whose mothers took the antimiscarriage, estrogenlike drug DES during pregnancy, for instance, have a high risk of cervical and vaginal cancer. In that context, the idea that exposure to certain chemicals during fetal or infant development might "program" someone for obesity didn't seem so crazy, says Jerrold Heindel of NIEHS. In 2003 he therefore wrote a commentary, mentioning Baillie-Hamilton's idea, in a widely read toxicology journal, bringing what he called its "provocative hypothesis" more attention. He underlined one fact in particular. When many of the chemicals Baillie-Hamilton discussed had been tested for toxicity, researchers focused on whether they caused weight loss, which is considered a toxic effect. They overlooked instances when the chemicals caused weight gain. But if you go back to those old studies, Heindel pointed out, you see that a number of chemicals caused weight gain--and at low doses, akin to those that fetuses and newborns are exposed to, not the proverbial 800 cans of diet soda a day. Those results, he says, had "generally been overlooked."
Scientists in Japan, whose work Heindel focused on, were also finding that low levels of certain compounds, such as bisphenol A (the building block of hard, polycarbonate plastic, including that in baby bottles), had surprising effects on cells growing in lab dishes. Usually the cells become fibroblasts, which make up the body's connective tissue. These prefibroblasts, however, are like the kid who isn't sure what he wants to be when he grows up. With a little nudge, they can take an entirely different road. They can become adipocytes--fat cells. And that's what the Japanese team found: bisphenol A, and some other industrial compounds, pushed prefibroblasts to become fat cells. The compounds also stimulated the proliferation of existing fat cells. "The fact that an environmental chemical has the potential to stimulate growth of 'preadipocytes' has enormous implications," Heindel wrote. If this happened in living animals as it did in cells in lab dishes, "the result would be an animal [with] the tendency to become obese."
It took less than two years for Heindel's "if" to become reality. For 30 years his colleague Newbold had been studying the effects of estrogens, but she had never specifically looked for links to obesity. Now she did. Newbold gave low doses (equivalent to what people are exposed to in the environment) of hormone-mimicking compounds to newborn mice. In six months, the mice were 20 percent heavier and had 36 percent more body fat than unexposed mice. Strangely, these results seemed to contradict the first law of thermodynamics, which implies that weight gain equals calories consumed minus calories burned. "What was so odd was that the overweight mice were not eating more or moving less than the normal mice," Newbold says. "We measured that very carefully, and there was no statistical difference."
On the other side of the country, Bruce Blumberg of the University of California, Irvine, had also read the 2002 Baillie-Hamilton paper. He wasn't overly impressed. "She was peddling a book with questionable claims about diets that 'detoxify' the body," he recalls. "And to find a correlation between rising levels of obesity and chemicals didn't mean much. There's a correlation between obesity and a lot of things." Nevertheless, her claim stuck in the back of his mind as he tested environmental compounds for their effects on the endocrine (hormone) system. "People were testing these compounds for all sorts of things, saying, 'Let's see what they do in my [experimental] system,' " Blumberg says. "But cells in culture are not identical to cells in the body. We had to see whether this occurred in live animals."
In 2006 he fed pregnant mice tributyltin, a disinfectant and fungicide used in marine paints, plastics production, and other products, which enters the food chain in seafood and drinking water. "The offspring were born with more fat already stored, more fat cells, and became 5 to 20 percent fatter by adulthood," Blumberg says. Genetic tests revealed how that had happened. The tributyltin activated a receptor called PPAR gamma, which acts like a switch for cells' fate: in one position it allows cells to remain fibroblasts, in another it guides them to become fat cells. (It is because the diabetes drugs Actos and Avandia activate PPAR gamma that one of their major side effects is obesity.) The effect was so strong and so reliable that Blumberg thought compounds that reprogram cells' fate like this deserved a name of their own: obesogens. As later tests would show, tributyltin is not the only obesogen that acts on the PPAR pathway, leading to more fat cells. So do some phthalates (used to make vinyl plastics, such as those used in shower curtains and, until the 1990s, plastic food wrap), bisphenol A, and perfluoroalkyl compounds (used in stain repellents and nonstick cooking surfaces).
Programming the fetus to make more fat cells leaves an enduring physiological legacy. "The more adipocytes, the fatter you are," says UCSF's Lustig. But adipocytes are more than passive storage sites. They also fine-tune appetite, producing hormones that act on the brain to make us feel hungry or sated. With more adipocytes, an animal is doubly cursed: it is hungrier more often, and the extra food it eats has more places to go--and remain.
Within a year of Blumberg's groundbreaking work, it became clear that altering cells' fate isn't the only way obesogens can act, and that exotic pollutants aren't the only potential obesogens. In 2005 Newbold began feeding newborn rats genistein, an estrogenlike compound found in soy, at doses like those in soy milk and soy formula. By the age of 3 or 4 months, the rats had higher stores of fat and a noticeable increase in body weight. And once again, mice fed genistein did not eat significantly more--not enough more, anyway, to account for their extra avoirdupois, suggesting that the compound threw a wrench in the workings of the body's metabolic rate. "The only way to gain weight is to take in more calories than you burn," says Blumberg. "But there are lots of variables, such as how efficiently calories are used." Someone who uses calories very efficiently, and burns fewer to stay warm, has more left over to turn into fat. "One of the messages of the obesogens research is that prenatal exposure can reprogram metabolism so that you are predisposed to become fat," says Blumberg.
The jury is still out on whether soy programs babies to be overweight--some studies find that it does, other studies that it doesn't--but Newbold didn't want her new grandchild to be a guinea pig in this unintentional experiment. When her daughter mentioned that she was planning to feed the baby soy formula, as about 20 percent of American mothers do, Newbold said she would cover the cost of a year's worth of regular formula if her daughter would change her mind. (She did.) As a scientist rather than a grandmother, however, Newbold hedged her bets. "Whether our results can be extrapolated to humans," she said in 2005, "remains to be determined."
Another challenge to the simplistic calories-in/calories-out model came just this month. The time of day when mice eat, scientists reported, can greatly affect weight gain. Mice fed a high-fat diet during their normal sleeping hours gained more than twice as much weight as mice eating the same type and amount of food during their normal waking hours, Fred Turek of Northwestern University and colleagues reported in the journal Obesity. And just as Newbold found, the two groups did not differ enough in caloric intake or activity levels to account for the difference in weight gain. Turek suspects that one possible cause of the difference is the disruption in the animals' circadian rhythms. Genes that govern our daily cycle of sleeping and waking "also regulate at least 10 percent of the other genes in our cells, including metabolic genes," says Turek. "Mess up the cellular clock and you may mess up metabolic rate." That would account for why the mice that ate when they should have slept gained more weight: the disruption in their clock genes lowered their metabolic rate, so they burned fewer calories to keep their body running. Studies in people have linked eating at odd times with weight gain, too.
Mice are all well and good, but many a theory has imploded when results in lab animals failed to show up in people. Unfortunately, that is not the case with obesogens. In 2005 scientists in Spain reported that the more pesticides children were exposed to as fetuses, the greater their risk of being overweight as toddlers. And last January scientists in Belgium found that children exposed to higher levels of PCBs and DDE (the breakdown product of the pesticide DDT) before birth were fatter than those exposed to lower levels. Neither study proves causation, but they "support the findings in experimental animals," says Newbold. They "show a link between exposure to environmental chemicals and the development of obesity."
Given the ubiquity of obesogens, traces of which are found in the blood or tissue of virtually every American, why isn't everyone overweight? For now, all scientists can say is that even a slight variation in the amounts and timing of exposures might matter, as could individual differences in physiology. "Even in genetically identical mice," notes Blumberg, "you get a range of reactions to the same chemical exposure." More problematic is the question of how to deal with this cause of obesity. If obesogens have converted more precursor cells into fat cells, or have given you a "thrifty" metabolism that husbands calories like a famine victim, you face an uphill climb. "It doesn't mean you can't work out like a demon and strictly control what you eat," says Blumberg, "but you have to work at it that much harder." He and others are quick to add that obesogens do not account for all cases of obesity, especially in adults. "I'd like to avoid the simplistic story that chemicals make you fat," says Blumberg. For instance, someone who was slim throughout adolescence and then packed on pounds in adulthood probably cannot blame it on exposure to obesogens prenatally or n infancy: if that were the cause, the extra fat cells and lower metabolic rate that obesogens cause would have shown themselves in childhood chubbiness.
This fall, scientists from NIH, the Food and Drug Administration, the Environmental Protection Agency, and academia will discuss obesogens at the largest-ever government-sponsored meeting on the topic. "The main message is that obesogens are a factor that we hadn't thought about at all before this," says Blumberg. But they're one that could clear up at least some of the mystery of why so many of us put on pounds that refuse to come off.
PHOTO (COLOR)
~~~~~~~~
By Sharon Begley

Genetic variation in the metabolism of MDMA

Introduction
The introduction is used to define the topic of the assignment and give some general information about the topic.

Genetic variation in the metabolism of MDMA
There is large variation in how drugs are metabolised in your body depending on your genetic background. Much of this variation can be due to genetic variability in a person?s drug metabolising enzymes. Describe these enzymes and how they influence the metabolism of MDMA

Identification of different polymorphisms in MDMA metabolism.
How do the polymorphisms influence the metabolism of MDMA? Are there different polymorphisms that have more or less severe influence? What are these polymorphisms and how do the influence the normal gene function and how does this lead to MDMA toxicity? Explain how these polymorphisms are identified in the laboratory.
This paragraph will most probably be quite long. If you think it is too long you can subdivide it.

Pharmacy issues
This subheading gives you the opportunity to put something in this assignment that is relevant to you as a pharmacist in training. Ethical issues, treatment issues, the use of genetic data to determine treatment etc etc. can all be used. This paragraph should glue the previous ones together. Use the previous paragraphs as a basis for your discussion.

Genetic Knowledge and Responsibilities to Others

After three years of deterioration and suffering, Harry's father died of Huntington disease at age 49. When his father was diagnosed all of the immediate family were invited to participate in a genetic counselling session. Harry, who was 22 years old at the time, learned that his degenerative disease of the basal ganglia is physically and mentally disabling and that he has a one in two chance of developing it. Because the number of CAG repeats tends to increase in the offspring of affected males, and because more CAG repeats indicates earlier onset of the disease, if he has inherited the genotype Harry is likely to be afflicted earlier than his father was. Although Harry's brother was tested for the genetic marker and found to be unaffected, Harry has refused the test saying that he does not want to know.
Harry and Sally have fallen in love. They want to marry and have a family.
Does Harry have a moral obligation to undergo testing before getting married and having children?
[Reference Information = Rhodes. "Genetic Links, Family Ties, and Social Bonds: Rights and Responsibilities in the Face of Genetic Knowledge."]

How to begin
You should begin by considering a number of things. First, read through the case and decide what the major issue(s) is. In other words, what is at stake in this case? Is this an issue of confidentiality? Autonomy? Are there broader themes or issues such as the patient-physician relationship or distributive justice? After making these general observations, move on to the specifics of the case.

Generally, the point of a case is that something must be done. Specifically, there are multiple options, and we must decide which is preferable. You should identify and consider various possible solutions/actions. Also feel free to fill in hypothetical details. Often we will not know all the details of a case. What these details are can affect your decision about what you think should be done. If there is a relevant detail missing, discuss how this detail (potentially) effects your conclusion. Or, if necessary, state your assumptions up front. For example, In this case, I will assume the physician has discussed X with the patient."

Remember to bring up possible objections to your point of view. Sometimes, this will come out in your discussion of possible options. For example, you may pose one option as something certain people would propose and then discuss why you disagree with it. However, if this is not clear in your general discussion, then make it clear.

Finally, be clear about which option(s) you support and why. Again, this will usually be clear from your general discussion. However, if not, make it clear.

Below is a detailed description of other specific things I will look for.
Overall moral argument/position
You will notice that some of the commentaries we read are more ambiguous or disorganized. However, for your analysis, you need to take a clear position and defend it. To do this, avoid back and forth discussions (especially within the same paragraph). A good way to clue the reader into your overall argument is to state it in your introduction along with a summary or suggestion of how you will defend it.
Also, make sure to stay focused on the moral issues of the case.
Use of moral theories, concepts, and readings when appropriate
One goal of this course is to learn to see the connections between abstract moral theories and everyday, practical issues. When making your arguments consider whether they relate to any of the theories or concepts discussed in the readings. If so, make this connection explicit. However, do not feel like you have to cram as many theories as possible into your case analysis.
Objection and response
A common philosophical tool in constructing an argument is to consider the position of those who disagree with you. This shows that you understand why reasonable people would disagree, but also gives you the chance to explain why your position is still better. When considering an objection to your argument, make sure it is clear to the reader this is what you are doing (otherwise, it will appear you are contradicting yourself). Also be sure to give your opponent the credit/time they deserve. You will usually need a few sentences to a paragraph to adequately explain your opponents position (remember the point is to acknowledge this is a reasonable view, not just something we can dismiss out of hand). Then, after you explain the objection, go on to refute it. You can do this either by showing a flaw in your opponents position or providing an argument that you think is stronger than the one presented by your opponent.

Also, be aware, you do not need to do a lot of summary of the case in your introduction. While it can be useful to point the reader toward key points or issues raised, there is no need to give a play-by-play or detailed summary.

Page #1

Read the following case and then provide your position as indicated at the end.

The Case of Nathaniel Wu
Nathaniel Wu is a top-notch microbiologist. Now 30 years old, he has spent several years working in one of the best research laboratories n the world and has developed an excellent reputation as a creative researcher and hard worker. Following the birth of their son six months ago, Nathaniel and his 29-year old wife decided it was time for Nathaniel to seek a job that could help them settle down and become financially secure. Thus, it was with great interest that Nathaniel read the following advertisement in as scientific journal:

Intercontinental Pharmaceutical Corporation (IPC) of New Jersey is seeking highly qualified scientists to join a unique research team. IPC is prepared to invest up to $20 million in setting up and supporting a team of researchers to conduct creative research to find new treatments and cures for diseases ranging from AIDS to heart disease and the common cold. Because IPC will commit $20 million to this research effort, we will require those selected for this special research project to commit to a long-term employment contract. Interested applicants should send information to Dr. Anna Peters at IPC.

This was the type of job Nathaniel had always hoped for, and he applied immediately. Before long, IPC invited Nathaniel to come to its headquarters and interview for a position on this special research team.

Dr. Peters, the head of the research committee, led a series of interviews with Nathaniel and three other qualified applicants. Although the other three applicants also were well qualified, they did not seem to share the same determination and drive as Nathaniel Wu. She listened carefully when Nathaniel presented his latest research findings to IPC scientists. They, too, were impressed with Nathaniel's knowledge, research skills, and potential for contributing to the special goals of the research team. Nathaniel sounded like the type of applicant who could have a long and productive career with IPC, and he seemed to be the sort of team player IPC was seeking.

Because Nathaniel was a top-quality research scientist, there was a high likelihood that his knowledge and research efforts might result in the type of discoveries for new drugs and treatments that were the goal of this special research project. Such discoveries and products could improve the quality of life for countless individuals and dramatically increase earnings for IPC. The investment by IPC of several million dollars to set up and support a laboratory for Nathaniel and to pay his salary while he worked seemed like a good one.

There was, however, one additional bit of information that Dr. Peters had before her as he considered her recommendation to the Employment Selection Committee. As part of the application process, Nathaniel had submitted a blood sample to determine his genetic profile, as had all other applicants. The profile showed that Nathaniel had the allele for Huntington Disease. When asked about this, Nathaniel revealed that he knew nothing about his family history because he had been adopted as an infant. After thorough genetic counseling about the implications of the news, Nathaniel still wanted the job at IPC.

To have a clearer picture of the impact of this new information on her recommendation, Dr. Peters had requested information from the IPC medical director. The report included the following:

Huntington disease (HD) is an autosomal dominant genetic disorder with an incidence in North America of 1 in 20,000. It is extremely rare in people of Asian descent. Individuals who have the allele for HD will, at some point, develop symptoms of the disease; the usual age of onset is between 35 and 45 years. The disorder is characterized by progressive degeneration of nerve cells in the central nervous system. The patient begins to have involuntary jerky or writhing movements of the arms and legs and facial grimacing. Changes in personality, including inappropriate laughter, crying, episodes of anger, memory loss, and bizarre, almost schizophrenic behavior may precede or follow the movement disorder; the clinical picture is highly variable. The disorder is fatal, with death commonly occurring when the patient is in his or her 50s, and the patient usually enters an almost vegetative state for the last few years of life.

Although we cannot predict the precise age of onset of these symptoms, the fact that Nathaniel has lived to age 30 without any identifiable symptoms means that he has approximately a 60 percent likelihood of onset by age 40. Soon after the onset of symptoms, a person with Huntington disease most likely would be unable to perform safely or productively in a laboratory setting. Medical care for a patient with HD can be extremely costly, requiring long-term care in a hospital or other medical facility. Without testing Mrs. Wu, we can predict that their son has a 50 percent chance of having the allele for HD.

Dr. Peters faced a tough dilemma. Should she recommend that IPC hire Nathaniel Wu? On one hand, she knew that his skills as a scientist fit well with the special research project. He could help IPC develop new products and bring in a potentially large amount of revenue from his work in the laboratory. This would be to the advantage of IPC in the tough and competitive world of pharmaceutical manufacturing. She also knew that the goal of the special research team was to do long-term research, and no on could predict how long it would take to discover new drugs and treatments.

She could not be certain how long Nathaniel would remain a productive scientist. IPC was investing large sums of money to support this special research project. Medical and other costs such as disability insurance, once Nathaniel developed symptoms, also weighed heavily as she considered whether to hire Nathaniel. Therefore, Dr. Peters decided to list the reasons for and against hiring Nathaniel for this special IPC research team and to take this information to the IPC Employment Selection Committee. What does this list of reasons for and against hiring Nathaniel contain?

What is your recommendation? Explain why.



Page 2* keep in question form

1.Hungarys Medical Research Council (ETT), which advises the government on health policy, has asked public prosecutors to investigate a genetic-diagnostic company that certified that a member of parliament did not have Roma or Jewish heritage.

The MP in question is a member of the far-right Jobbik party, which won 17% of the votes in the general election of April 2010. He apparently requested the certificate from a genetic diagnostic and research firm. The company produced the document in September 2010, a few weeks before local elections. Its report concludes that Roma and Jewish ancestry can be ruled out. The certificate first appeared on a right-wing website, which described the intention behind the gene test as noble, although it questioned the science.

2.What are the implications of this test and should companies be able to do the analysis?

Abbott,A. (14 June 2012). Genome test slammed for assessing racial purity. Nature 486,167 doi:10.1038/486167

3.What family conflicts could arise from genetic testing?

When should genetic testing be used?

Option 3: Newspaper Opinion Editorial (?op-ed?)

GENETIC DISCRIMINATION

Advocacy for supporting the health of the population or increasing public awareness of a specific health and/or social issue happens in many ways. Often a nursing perspective is missing from advocacy efforts. For this assignment, you will prepare an opinion editorial column for a newspaper or professional journal. Here is specific information for this assignment:

Take a few minutes to find some web or written resources on how to write an editorial; please avoid directly contacting newspaper offices. This is different from writing an academic paper. You will need to be clear about your audience and your issue and convince the reader of your perspective. Writing in this format will require you to add style and emotion yet still be fact based.

http://www.geneseo.edu/~bennett/EdWrite.htm

Writing the Editorial:
? Follow the pattern and style of editorial writing.
? In most editorials, the opinion of the writer is given near the beginning, followed by supporting
evidence and reasoning (direct approach).
? The first person plural voice (we, our) is most common in editorial writing and is appropriate in
establishing the credibility of the writer.
? Editorials should be short, precise, and well organized.
? Develop a strong introductory statement to capture the reader?s attention and to state your
opinion. Use a logical sequence for presenting your arguments, and an effective conclusion to maximize the impact on the reader.


Reference websites:

http://www.ctvnews.ca/some-canadians-suffering-genetic-discrimination-1.406308

http://www.ccgf-cceg.ca/en/about-genetic-discrimination

http://www.kidney.ca/page.aspx?pid=406&storyid1471=3429&ncs1471=3

Genetic Disease
PAGES 7 WORDS 2160

Introduction:
Today?s emphasis on genetic technology and its application has major implications for healthcare now and in the future. Nurses need to understand the importance of integrating new knowledge of genetics into their practices and be able to help patients cope with the genetic basis of disease. Nurses also need to examine their own attitudes, values, and beliefs concerning genetically acquired diseases in order to provide adequate and ethical nursing care to these populations.

Task:
A. Write a paper (suggested length of 5?7 pages) in which you analyze the case study information by doing the following:
1. Identify three to five appropriate members for an interdisciplinary team from whom you can obtain information for the Trosacks? initial visit.
a. Explain why you chose each member of the team.
b. Explain the type of information you expect to obtain from each member (suggested length of 1?2 pages).
2. Create a teaching plan (suggested length of 2?3 pages) for the Trosacks? initial visit that includes information on each of the following areas:
? Genetic diagnosis
? Treatment
? Prognosis as it applies to Tay-Sachs
? Support groups and appropriate referrals
? Pregnancy information
3. Discuss three ethical implications regarding the availability of personal genetic information (suggested length of 1?2 pages).
B. Write a short reflection paper (suggested length of 1?2 pages) in which you do the following:
1. Discuss your thoughts and feelings about the Trosacks? choice.
2. Discuss how you would handle advocating for the couple?s decision whether you agree with it or not.
3. Discuss how ethical and legal considerations affect the couple?s decision about continuing the pregnancy. (You should include at least one of each type.)

C. If you use sources, include all in-text citations and references in APA format.
.
Note: When using sources to support ideas and elements in a paper or project, the submission MUST include APA formatted in-text citations with a corresponding reference list for any direct quotes or paraphrasing. It is not necessary to list sources that were consulted if they have not been quoted or paraphrased in the text of the paper or project.
Note: No more than a combined total of 30% of a submission can be directly quoted or closely paraphrased from sources, even if cited correctly.

Case Study

As a nurse in a high-risk obstetric clinic, you have just accepted the assignment of Mrs. Rita Trosack?s case management. As such, you are responsible for determining how to best meet her needs for care upon the initial visit. From the patient?s chart you are able to ascertain the following information:





CHART

Rita Trosack, a 43-year-old Caucasian woman, has been married for six years to her husband, Peter, a 46-year-old Caucasian man who is a financial consultant. She was raised in a small town in the Midwest where her Irish grandparents settled in the early 1900s.

Rita went to college in Chicago, where she received a bachelor?s degree in finance, and has lived there ever since. Either her middle-class family, who still raise cattle on the family farm, visit her in Chicago, or she goes home for a visit at least once a year usually around the Thanksgiving holiday. After college, Rita was eager to move away from the farm, and she now enjoys the lifestyle in a big city.

Peter comes from Chicago. His family has lived there since his great grandparents emigrated from Poland just before World War I. His family still owns a bakery in the heart of the city where many members of Peter?s family work. His mother died two years ago, and his father still lives in their apartment located over the store.

Rita and Peter live in a condominium in downtown Chicago, close to the lake, and both work an average of 60 hours a week in the financial district. They were both raised as Catholics; however, neither chooses to practice the religion at this time.

After about two years of trying to conceive a child, Rita missed her menstrual period, began feeling nauseated, and started dry heaving every morning. Her breasts became tender, and she was experiencing fatigue so severe that she had to cut down her hours at the bank where she worked as an officer. She performed an early pregnancy test, which was positive. Since her last menstrual period (LMP) began on April 20, 2008, she calculated her due date as January 27, 2009.

Rita attended her first prenatal visit with Dr. Zimmerly in early June. He confirmed the estimated date of delivery (EDD) as late January 2009. Due to advanced maternal age, the chorionic villus sampling (CVS) was recommended to screen for fetal genetic defects. Rita scheduled the test for early July, began taking prenatal vitamins, and has stopped drinking her usual glass of wine with dinner. Both Peter and Rita gave up smoking over 20 years ago, so they are happy that this is not an issue for the unborn child. The physician also gave her basic information about nutrition and exercise, education regarding the normal signs and symptoms of pregnancy, proper seatbelt use, as well as warning signs that might signal problems to report to a physician. Since Rita is of normal weight for her height and has always been in good health, she is very happy about her pregnancy

In July, the result of the CVS indicated that the fetus is afflicted with Tay-Sachs disease. The couple was given a referral to a high-risk perinatal clinic by the physician.

You are assigned as Rita?s case manager. You are to meet with the couple to gain more information.

FAMILY INTERVIEW RESULTS:

Rita and Peter are very distraught that their child has inherited Tay-Sachs disease. They do not understand how this could have happened. They vacillate between denial and acceptance of the situation. Rita blames herself for working so hard that it ?affected? the baby. Peter is very angry and usually denies that anything will happen to the child and that the ?test is wrong.? At this time, they refuse to consider the possibility of abortion because of religious and personal beliefs.

During the interview you determine the following family history:

Rita?s parents:
Rita?s mother is 70 years old, alive and well. Her father is 72 years old, alive and well. Her two sisters are alive and well. Her maternal grandparents are deceased?they had three children (two girls and one boy, who are all alive and well). Her paternal grandparents are deceased?they had two children (one son who died at an early age of unknown causes, and another son who is alive and well).

Peter?s parents:
Peter?s mother died at 68 years old from pancreatic cancer; his father is 72 years old, alive and well. His maternal grandparents are deceased?they had four children (three girls and one boy, the rest who are alive and well). His paternal grandparents are deceased?they had three children (one son who died at an early age of unknown causes, another son who is alive and well, and a daughter who died at an early age of unknown causes).

SUBDOMAIN 724.2 - ADVANCED PATHOPHYSIOLOGY
Competency 724.2.5: Genetic Disease Diagnosis, Screening, and Treatment

Todays emphasis on genetic technology and its application has major implications for
healthcare now and in the future. Nurses need to understand the importance of integrating
new knowledge of genetics into their practices and be able to help patients cope with the
genetic basis of disease. Nurses also need to examine their own attitudes, values, and
beliefs concerning genetically acquired diseases in order to provide adequate and ethical
nursing care to these populations.
Refer to the Genetics Case Study (attached below) before beginning this task.
Task:
A. Write an essay (suggested length of 5??"7 pages) in which you analyze the case study
information by doing the following:
1. Identify three to five appropriate members for an interdisciplinary team from whom
you can obtain information for the Trosacks initial visit.
a. Explain why you chose each member of the team.
b. Explain the type of information you expect to obtain from each member
(suggested length of 1??"2 pages).
2. Create a teaching plan (suggested length of 2??"3 pages) for the Trosacks initial visit
that includes information on each of the following areas:
Genetic diagnosis
Treatment
Prognosis as it applies to Tay-Sachs
Support groups and appropriate referrals
Pregnancy information
3. Discuss three ethical implications regarding the availability of personal genetic
information (suggested length of 1??"2 pages).

There are faxes for this order.

Class debate position paper article must be from nursing literature 2008 or later that addresses genetic engineering. I have an opposing positive affirming position altering human genetics to aide in diseases, must include an interview or personal communication from another individual regarding their opinion on this issue. First person is not to be used. Must address each of the following Description of ethical issue in regarding genetic engineering, Describe the impact of the ethical issue upon society as a whole, describe the pro and cons of genetic engineering, describe the ethical values being compromised, describe the Judeo-Christian perspective on the ethical issue of genetic engineering, describe position being taken on this ethical issue, position must be supported with moe than just an opinion, include information from the person interviewed as well as the process in which your decision was reach to support genetic engineering, must be APA Introduction, body, conclusion, level headings, logical sequencing or flow, Reference page

What is the one thing that concerns you most about genetic testing in the work place?



EXPECTATIONS:

Please read:

Genetic Testing and the Future of Disability Insurance: Thinking about Discrimination in the Genetic Age

Paul Steven Miller. The Journal of Law, Medicine & Ethics. Boston: Summer 2007. Vol. 35, Iss. 2; pg. 47, 6 pgs

http://proquest.umi.com/pqdweb?index=2&did=1334711181&SrchMode=1&sid=3&Fmt=3&VInst=PROD&VType=PQD&RQT=309&VName=PQD&TS=1236292228&clientId=29440





Abstract (Summary)

[...] over a century ago, Darwin's revolutionary theories on natural selection and the evolution of species sparked many wonderful scientific advances and led to a greater understanding of mankind's place in the natural world.3 Unfortunately, dreadful misapplications of his brilliant concept of "survival of the fittest" also prospered.4 Plugged into the social, religious, cultural, and historical milieu of the time, Darwin's scientific theories found less scientific and more destructive applications.5 Bigoted notions of the underlying causes of class, social, and biological differences attributed "undesirable" characteristics to heredity. Three generations of imbeciles are enough.22 Years later in 1979, researchers determined that Carrie Buck, her sister, Doris, who was also sterilized, and her daughter, Vivian, all possessed standard intelligence.23 According to one report, this brand of pseudoscience permitted the forcible sterilization of 60,000 Americans in the 40 years after Buck v Bell.24 Genetic Discrimination in the Workplace As the science of genetics explodes and the technology becomes more accessible, the issue of how society protects its workers from the misuse of genetic information becomes more important.n The facts of the case are simple.53 The EEOC alleged that Burlington Northern, or BNSF, subjected its employees to surreptitious genetic testing.



Please write a five page paper answering this question and hand it in by the end of this module.

Of course, make your argument out in terms of utilitarian and deontological considerations.

Genetic Screening
PAGES 6 WORDS 2160

1. Content- share knowledge/understanding of SCIENTIFIC aspect of genetic screening
A. Educate/inform about basic science ? demonstrate your knowledge/understanding of the scientific basis of genetic screening
THIS SHOULD BE A SIGNIFICANT COMPONENET OF the PAPER
B. Explain some focused aspect
This may include:
1. applications/technology ? HOW and WHY used/useful
2. identify common misconceptions and ?correct? them in sharing basic knowledge

The paper must cover these topics:
What is the science behind genetic screening, how does it work etc.
What are the social issues surrounding genetic screening: ethical issues?
What are the pros and cons of genetic screening today?

NOTES :
The paper should not simply be a ?report.? A report merely lists the various facts that you found and informs the reader of those facts. A significant part of your paper should be a critical analysis that uses the information from your research to articulate what you understand to be the scientific basis (assumptions and limitations!) of genetic screening. The paper must clearly demonstrate your critical thinking surrounding your understanding of the strengths and limitations of the scientific understanding of your topic and its application.

If this paper cannot be done by Monday at 8:00am I do not want it.

SUBDOMAIN 724.2 - ADVANCED PATHOPHYSIOLOGY

Competency 724.2.5: Genetic Disease Diagnosis, Screening, and Treatment - The graduate demonstrates application and integration of the relationship of genetics and genomics to health, prevention, screening, diagnostics, and selection of treatment and analyzes personal, health, developmental, and physical histories that consider genetic, environmental, and genomic influences and risks.

Competency 724.2.6: Advocacy and Decision Making in Genetics - The graduate recognizes issues that affect the rights of clients relative to genetic and genomic related decision making; provides clients appropriate information or resources relative to genetic- and genomic-related decision making; and recognizes his or her own attitudes and values related to genetics and genomics.

Objectives:
724.2.5-03: Assess a client?s knowledge, perceptions, and responses to genetic/genomic information in a given situation.
724.2.5-04: Develop a plan of care for a given patient that incorporates genetic/genomic assessment information.
724.2.5-07: Discuss appropriate prevention strategies for a given genetic disease.
724.2.5-08: Discuss appropriate Treatment Options for a given genetic disease.
724.2.6-01: Identify issues that might influence a given client?s decision making relative to genetic care or screening.
724.2.6-02: Determine the appropriate referrals for specialized genetic and genomic services for a given client in a given situation.
724.2.6-03: Provide a given client with appropriate genetic/genomic information, resources, services, and/or technologies to facilitate decision making in a given situation.
724.2.6-04: Identify appropriate health care providers with whom to collaborate when providing genetic/genomic healthcare services in a given situation.
724.2.6-05: Recognize how a nurse?s own attitudes or values relative to genetic/genomic science may affect care provided to clients.
724.2.6-06: Discuss the nurse?s role in advocating for client access to desired genetic/genomic services and/or resources.
724.2.6-07: Recommend an appropriate strategy to support/enhance ethical decision-making in a given situation.
724.2.6-08: Identify legal principles that address patient preferences and advocacy in a given situation.
724.2.6-09: Identify ethical principles that address patient preferences and advocacy in a given situation.

Introduction:
Today?s emphasis on genetic technology and its application has major implications for healthcare now and in the future. Nurses need to understand the importance of integrating new knowledge of genetics into their practices and be able to help patients cope with the genetic basis of disease. Nurses also need to examine their own attitudes, values, and beliefs concerning genetically acquired diseases in order to provide adequate and ethical nursing care to these populations.
Refer to the ?Genetics Case Study? (attached below) before beginning this task.

Task:

A. Write an essay (suggested length of 5 pages) in which you analyze the case study information by doing the following:
1. Identify three to five appropriate members for an interdisciplinary team from whom you can obtain information for the Trosacks? initial visit.
a. Explain why you chose each member of the team.
b. Explain the type of information you expect to obtain from each member (suggested length of 1 page).

2. Create a teaching plan (suggested length of 2 pages) for the Trosacks? initial visit that includes information on each of the following areas:
? Genetic diagnosis
? Treatment
? Prognosis as it applies to Tay-Sachs
? Support groups and appropriate referrals
? Pregnancy information

3. Discuss three ethical implications regarding the availability of personal genetic information (suggested length of 1 page).

B. Write a short reflection paper (suggested length of 1 page) in which you do the following:
1. Discuss your thoughts and feelings about the Trosacks? choice.

2. Discuss how you would handle advocating for the couple?s decision whether you agree with it or not.

3. Discuss how ethical and legal considerations affect the couple?s decision about continuing the pregnancy. (You should include at least one of each type.)

C. When you use sources, include all in-text citations and references in APA format.

Note: Please save word-processing documents as *.rtf (Rich Text Format) files.
.
Note: When using sources to support ideas and elements in a paper or project, the submission MUST include APA formatted in-text citations with a corresponding reference list for any direct quotes or paraphrasing. It is not necessary to list sources that were consulted if they have not been quoted or paraphrased in the text of the paper or project.

Note: No more than a combined total of 30% of a submission can be directly quoted or closely paraphrased from sources, even if cited correctly.
--------------------------------------------------------------------------------------------------------------
Case Study

As a nurse in a high-risk obstetric clinic, you have just accepted the assignment of Mrs. Rita Trosack?s case management. As such, you are responsible for determining how to best meet her needs for care upon the initial visit. From the patient?s chart you are able to ascertain the following information:

CHART

Rita Trosack, a 43-year-old Caucasian woman, has been married for six years to her husband, Peter, a 46-year-old Caucasian man who is a financial consultant. She was raised in a small town in the Midwest where her Irish grandparents settled in the early 1900s.

Rita went to college in Chicago, where she received a bachelor?s degree in finance, and has lived there ever since. Either her middle-class family, who still raise cattle on the family farm, visit her in Chicago, or she goes home for a visit at least once a year usually around the Thanksgiving holiday. After college, Rita was eager to move away from the farm, and she now enjoys the lifestyle in a big city.

Peter comes from Chicago. His family has lived there since his great grandparents emigrated from Poland just before World War I. His family still owns a bakery in the heart of the city where many members of Peter?s family work. His mother died two years ago, and his father still lives in their apartment located over the store.

Rita and Peter live in a condominium in downtown Chicago, close to the lake, and both work an average of 60 hours a week in the financial district. They were both raised as Catholics; however, neither chooses to practice the religion at this time.

After about two years of trying to conceive a child, Rita missed her menstrual period, began feeling nauseated, and started dry heaving every morning. Her breasts became tender, and she was experiencing fatigue so severe that she had to cut down her hours at the bank where she worked as an officer. She performed an early pregnancy test, which was positive. Since her last menstrual period (LMP) began on April 20, 2008, she calculated her due date as January 27, 2009.

Rita attended her first prenatal visit with Dr. Zimmerly in early June. He confirmed the estimated date of delivery (EDD) as late January 2009. Due to advanced maternal age, the chorionic villus sampling (CVS) was recommended to screen for fetal genetic defects. Rita scheduled the test for early July, began taking prenatal vitamins, and has stopped drinking her usual glass of wine with dinner. Both Peter and Rita gave up smoking over 20 years ago, so they are happy that this is not an issue for the unborn child. The physician also gave her basic information about nutrition and exercise, education regarding the normal signs and symptoms of pregnancy, proper seatbelt use, as well as warning signs that might signal problems to report to a physician. Since Rita is of normal weight for her height and has always been in good health, she is very happy about her pregnancy

In July, the result of the CVS indicated that the fetus is afflicted with Tay-Sachs disease. The couple was given a referral to a high-risk perinatal clinic by the physician.

You are assigned as Rita?s case manager. You are to meet with the couple to gain more information.

FAMILY INTERVIEW RESULTS:

Rita and Peter are very distraught that their child has inherited Tay-Sachs disease. They do not understand how this could have happened. They vacillate between denial and acceptance of the situation. Rita blames herself for working so hard that it ?affected? the baby. Peter is very angry and usually denies that anything will happen to the child and that the ?test is wrong.? At this time, they refuse to consider the possibility of abortion because of religious and personal beliefs.

During the interview you determine the following family history:

Rita?s parents:
Rita?s mother is 70 years old, alive and well. Her father is 72 years old, alive and well. Her two sisters are alive and well. Her maternal grandparents are deceased?they had three children (two girls and one boy, who are all alive and well). Her paternal grandparents are deceased?they had two children (one son who died at an early age of unknown causes, and another son who is alive and well).

Peter?s parents:
Peter?s mother died at 68 years old from pancreatic cancer; his father is 72 years old, alive and well. His maternal grandparents are deceased?they had four children (three girls and one boy, the rest who are alive and well). His paternal grandparents are deceased?they had three children (one son who died at an early age of unknown causes, another son who is alive and well, and a daughter who died at an early age of unknown causes).

Paper is for Genetics.
I have chosen the topic.
Genetic Pathway of breast cancer and gene therapy as it relates to breast cancer.

Discuss the role and processes of genetic counselling (in relation to loss and grief) with a client who has been informed of a potentially fatal genetic condition in a current pregnancy. What are the special and additional considerations and possible actions the genetic counsellor will need to take if; the client lives in a remote Aboriginal community with little access to counselling, ongoing care and support?

1 reference
Baker, Schuette & Uhlmann (eds) (1998) A guide to genetic counselling.

WRITER REQUEST: CHRISTINEPIZAN
I am requesting writer Christinepizan if possible. This is a position paper on the pros and cons of genetic testing. Please take the position that genetic cloning may be OK for therapeutic purposes only and that it needs to be regulated to prevent other unauthorized use. Please clearly state supporting arguments for genetic cloning.
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Discusses genetic disorders and its devastating affects on an unborn child. An amniocentesis result indicated that there is more than a 50/50 chance that your unborn child will be born with a genetic disorder/disease/syndrome.(You choose the genetic disorder/disease/sydrome.)

* Would you still want to have your child? Why or Why not? Justify your answer.

* What would you do?

* How would you feel?

*What are some of the decisions that your would have to make?

* What are some personal issues that you may struggle with?

Please address each question.

write good grammar. Please write 2 pages long and first introduction then body then conclusion also. I need it by next monday 1/28/02

Refer to the "Genetics Case Study" uploaded resource as you write the outline.

Analyze the case study by doing the following: Discuss 3-5 ethical implications regarding the availability of personal genetic information. Also, please provide a credible and well-supported discussion of how ethical and legal considerations affect the patients decision about continuing the pregnancy.
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Write a detailed essay (2000 words ??" not including reference list) and consult and cite at least 10 appropriate references, peer reviewed, with the majority to be recent (last 10 years). Plagiarism is not acceptable and will be penalised.
and not including outline
Note:
-The topic under introduction to genetic counseling subject not only under science.
-I need the outline to be attached to the assignment.

MARKING GUIDE:

*Introduction:

-appropriate overview of the topic

-define terms

-outline of approach

*Discussion:

-comprehensive discussion

-demonstrates in-depth knowledge

-understanding of the topic

-demonstrates critical analysis skills

-literature appropriate, academic standard

-incorporates literature appropriately

*Conclusion:

-draws discussion together well

-application to future professional practice

*References:

-correctly annotated

*Writing & Presentation:

-grammar / spelling

-postgraduate academic standard / reads well.
GENERAL ASSIGMENT TIPS

ALWAYS note the title of your assignment on the first page and cover sheet
Do not put anything (your name or student no.) in the header or footer of assignments that must be submitted via SafeAssign.
FOLLOW THE MARKING GUIDELINES eg if outline of approach is noted under the heading of Introduction then make sure you address this specifically in your introduction paragraph
Similarly if application to personal practice is listed under Conclusion then there needs to be an obvious attempt to address this
Sometimes it is useful to define a topic or title if there is any chance it might be open to variable interpretation
Generation specific terms, informal conversational or colloquial language is not appropriate standard for assignments (unless a part of a cited quote). A cautionary note: do not use words that you substitute from the thesaurus unless you comfortably understand the full range of meaning for that word. Many students fall into this trap in their attempt to make their written language sound more sophisticated. Clarity of language and professionalism should be your aim
PLEASE USE ENGLISH(AUS) AS YOUR DEFAULT LANGUAGE ??" I really do not enjoy reading assignments with Americanised spelling
Please remember that correct punctuation, such as the correct use of the comma, can significantly improve readability
Please try to have someone else proof read the document. It is a test of readability and clarity of expression if someone, other than the author, can easily follow the discussion
If a reference text is cited then the specific page numbers MUST be included so that the examiner can consult the reference if clarification is required. (I know this is not usual in Science but it is the expected approach in the social sciences, and it is more appropriate for genetic counselling)
Word alert:
o Affect / effect ??" generally (but not absolutely always since English has the lowest rule consistency of any language) affect is used as a verb, as in this drug can affect motor skills however., in medicine and psychology it is occasionally used as a noun eg I noticed her flat affect whereas effect is generally used as a noun as in this drug has an effect on motor skills and only rarely as a verb eg this crisis will effect a change.
o Fewer / less ??" fewer is generally the correct term if numbers are involved ie fewer steps to climb rather than less steps to climb whereas less generally refers to volume or proportional size eg we have less milk than I thought

As I mentioned before I am international student so I don't want fancy words or expression .

Hi, Im a diagnostic radiography student. this is a medico-legal and ethics paper, so please kindly write the essay related to healthcare. Pls cover all types of genetic testing and please do not cite from wikipedia. Thank you!!

Genetic testing:

-preimplantation genetic diagnosis (see the side bar, Screening Embryos for Disease)
-prenatal diagnostic testing (an example related to my profession is prenatal ultrasound screening for Downs syndrom)
-newborn screening
-carrier screening, which involves identifying unaffected individuals who carry one copy of a gene for a disease that requires two copies for the disease to be expressed
-Genealogical DNA test (for genetic genealogy purposes)
-presymptomatic testing for predicting adult-onset disorders such as Huntington's disease
-presymptomatic testing for estimating the risk of developing adult-onset cancers and Alzheimer's disease
-confirmational diagnosis of a symptomatic individual
-forensic/identity testing



Pls address the ethical aspects followed by the legal aspects with regards to Singapore Law pls.



Pls cover the following:

1) Ethical theories: Deontological (Kant's dutiful person model), Consequentialism (Mill's utilitarian Man model), Virtue (Gilligan's Caring and Love model)

2) Prima-faci principles for healthcare providers: autonomy, non-maleficence, beneficence, justice (these four are compulsory), paternalism, fidelity, veracity (these 3 are optional)

3) Virtues like respect for others, nonmalevolence, benevolence, fairness & empathy



below is a framework on ethical decision making from my notes. thank you!!

Step 1: identify the ethical issue

Step 2: Clarify personal & professional values
-professional code of ethics
-interpretation & position reflect underlying value system

Step 3: Clarify influencing factors or barriers
-gather information from professional literature
-prima facia (minimum first 4)

Step 4: Define guiding principles
-follow professional code of ethics whenever possible

Step 5: Analyze alternatives
-usually at least 2 course of action will develop
-analyse each argument for and against each action plus their outcomes
-check for validity of the arguments

Step 6: Find common ground
-dilemmas may lead to disputes
-communication is important
-strategies may include: collaboration, compromise, accommodation, coercion, avoidance

Step 7: Decide & Act
-ideal is personal value is consistent with others
-be consistent to legal and professional standards
-being aware of the guiding principles behind the decision will justify your decision

Step 8: Assess outcomes
-evaluate both the process & outcomes
-learn from the experience and improve your approach towards them

Conclusion:-the code gives a framework to direct, coordinate and assist in the day to
day challenges
-at all times abide by the code, respect patient's autonomy & dignity of the
patient.

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Customer is requesting that (pheelyks) completes this order.

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