Article Critique Is genetic testing right for you and your f.docx

Article Critique
Is genetic testing right for you and your family?
Recent advancements within scientific research have spurred
controversy over the topic of genetic
testing, especially with newborns. Although scientists can now
identify certain DNA markers that reveal
an increased propensity for various diseases and disorders,
numerous moral dilemmas quickly emerge.
How will predicting future events impact the present? Would
knowing that your child is most likely
going to develop Alzheimer’s disease change the way that you
raise him or her? Should someone help
you understand the implications if you are told that your child
is most likely going to be autistic? What
impact will these “potential” results have on your child’s
healthcare? Could genetic testing force your
child to be plagued with unnecessary stigmas?
Read the article by Pollack (2010) and write a two-page critique
examining why so much controversy
surrounds genetic testing today. Do you agree or disagree with
the author’s stance on this topic?
Tips for writing your Article Critique:
Introduction – This is meant to give a concise overview of the
article being discussed and is usually one
paragraph in length.
Summary – This contains the summary of the article that gives
the general argument(s) and overview of
the featured author.
Critique – In this portion of the paper, you should provide a
critique/opinion of the article. You should
state whether you agree or disagree with the issues that were
posed. Furthermore, you should also

discuss why you agree or disagree with the author’s
viewpoint(s). Do not forget to discuss the
importance of this article to the field of psychology.
Conclusion – This summarizes your final thoughts for the
featured topic.
Note: Do not forget to double space your response and use
Times New Roman 12 pt. font. This written
assignment should have a cover page, two full pages of content
in which you organize the four sections
of the article critique based on the guidelines as listed above,
and a references page. You are required to
utilize the textbook, assigned article, and one additional source
to support your stance on this topic. All
three sources should be included on your references page. You
should also have accompanying in-text
citations for each source that you have used throughout your
response. Follow APA format.
ECO 520 Case Study One: Production and Cost Guidelines and
Rubric
Overview
This course includes two case studies. These exercises are
designed to actively involve you in microeconomic reasoning
and decision making and
to help you apply the concepts covered in the course to complex
real-world situations. The case studies provide practice reading
and
interpreting both quantitative and qualitative analysis. You will
then use your analysis to make decisions and predictions. These
exercises
provide practice communicating reasoning in a professional
manner.
Prompt
Case Study One: Production and Cost focuses on a perfectly
competitive industry. Each competitive firm in this industry has

a Cobb-Douglas
production function: q = 0.02Ko5 LOs. These firms combine
capital and labor to produce output. In task 3-2 you will use
graphs and equations
to analyze competitive firm decisions, the interaction between
those decisions, and the competitive market determination of
price.
Skills needed to complete this case study:
1. The ability to enter data, enter formulas, and create charts
in Excel (Note: use the data provided in the Case Study One
Data
document.)
2. The ability to use basic algebra
To complete Case Study One, follow the steps below:
1. Use algebra to derive the cost function:
2
• To solve for K as a function of q and L. Show your work, and
verify that you have this solution: K = ---.!l
0.02L L
• Write the cost function. Cost is equal to the sum of the
expenditures to purchase capital plus the expenditures to
purchase labor. Each of
these expenditures is equal to the price of the input multiplied
by the quantity of the input. Use the letter r to denote the price
of capital
and w to denote the price of labor.
2. Use Excel to create and graph isoquant curves:
• Use column A to store possible values for L. Use the first
row to label the column. Put a zero (use the number 0) in the
second row. Put
the formula =a2+5 in the third row. Copy this formula in rows
4-25.
• Use column B to store the quantity of K that is needed to
combine with each possible value of L to produce 5 units. Use
the equation
from Step 1, with q = 5.

• Use column C to store the quantity of K that is needed to
the equation
• Use column D to store the quantity of K that is needed to
the equation
• Use scatter-plot to graph the isoquants. Print the graph,
and use this graph to complete the following table:
Q
quantity of L that must be combined
with K=5000 to produce each
quantity of output (q)
5
10
15
3. Consider the short run situation in which K is fixed at 5000.
Assume r = .05 and w = 40. Open a new Excel worksheet for
cost information. Note
the difference between your production worksheet, in which the
first column stored possible values of L, and this new cost
worksheet in which
the first column will store possible values of q. The variable
represented in the first column will be graphed on the horizontal
axis of the scatter-
plot. For the isoquant diagram, L is shown on the horizontal
axis. The new cost worksheet will be used to graph cost
functions, with quantity of
output on the horizontal axis

• Use column A to store possible values of q from 0 through
20.
• Use column B to store Total Fixed Cost (TFC). Fixed cost
in this example is equal to r*K, with K = 5000.
• Use column C to store Total Variable Cost (TVC).
Variable cost in this example is equal to w*L. To compute the
quantity of L that must be
combined with K=5000 to produce each possible value of q,
remember that the production function is: q = O.02KoS LOs.
• Use algebra to solve for L as a function of q and K.
Because K is fixed at 5000 for this short run analysis, the
resulting equation will have L
on the left-hand-side and the variable q will be combined with
several constants on the right-hand-side. Substitute this
equation for L to
generate the TVC values for column C. Be careful to enclose the
entire denominator in parentheses.
•
•
•
•
•
•
•
•
Use column D to store Total Cost (TC) = TFC + TVe.
Generate AFC in column E by dividing TFC/q
Generate AVC in column F by dividing TVC/q
Generate ATC in column G by dividing TC/q
Generate one estimate of MC in column H by computing the
change in TC as output increases. Leave the first row blank.
Enter a formula
into the third row: =d3-d2. Copy this formula into the remaining
columns. This will provide arc elasticity.
d esti f MC . I I P' I ... I 2( 40q)

Generate a secon estimate 0 rn co umn . oint e asttcitv IS
equa to 2
0.02 (5000)
Use scatter-plot to graph TC, TFC and TVe.
Use scatter-plot to generate a second graph to show ATC, AFC,
AVC and the second estimate of Me.
4. Find equilibrium P & Q in the perfectly competitive market.
Demand is represented by the equation: P = 720 - O.5Q. The
perfectly competitive
firms are assumed to be identical. The quantity supplied by each
individual firm is represented by the firm's MC curve. In order
to graph market
supply and market demand, however, we need to focus on
market quantity, rather than individual firm quantity. The
market quantity is equal to
Q = nq; where q is the individual firm's quantity.
• Solve for the short-run equilibrium market P & Q using
algebra.
• Generate new columns in Excel to represent demand and
supply. This will require some strategic thinking. You will want
to generate a
graph with market quantity on the horizontal axis. That means
that you will need to generate a column of numbers to represent
possible
values of market quantity.
o Let column J represent market quantity, Q = 100q .
o Store values for demand in column K. Store values of
supply in column L. The numbers in column L will be equal to
the numbers
representing MC in column I. You can simply copy these
numbers into column L. Alternately, you could enter the
formula for MC,
recognizing that the firm-level quantity is equal to the market
quantity stored in column J divided by 100.
• Graph demand and supply. Verify that the computed

equilibrium P & Q are consistent with the graph.
5. Complete the following table for a firm that is producing the
profit-maximizing level of output.
Revenue
$$$
Optimal firm q
Short-run equilibrium P
Revenue = q*P
Cost
TFC
TVC (incurred by a firm that is producing the optimal Q)
TC = TVC + TFC
Profit
Profit = Revenue - TC
6. Generate a graph to show the optimal quantity that will be
produced by each competitive firm, and the resulting profit.
This graph will include
4 curves to show:
• The short-run equilibrium price (To generate this
horizontal line, use column L to store the values of the
equilibrium P. Because this line
is horizontal, all of the numbers stored in this column are

identical.)
• ATC
• AVC
• Me.
Is your graph is consistent with your profit computation?
Explain.
7. Assume that potential entrants will have exactly the same
cost function as the existing firms. Will new firms enter the
market? Why or why
not?
8. You work for a firm that produces an input that is used by
these competitive firms. Your marketing vice president has
asked you to provide
analysis to support the marketing department's strategic
planning committee. They understand that the industry is not
currently in long-run
equilibrium, and they have asked you to help them estimate the
output that will be produced and the number of firms that will
exist when the
industry reaches long-run equilibrium. This will require several
steps:
• Draw the pair of graphs that depict long run competitive
equilibrium. Note that two things are true in LR equilibrium:
o P=MC=ATC for individual firm
o S=D in market
• You will need equations that describe these two facts (fill
in the blanks):
o ATC=MC
0.05(~50_0-.:...0) + 40q
q 0.022 (5000)
• D = 5
720-0.5Q = 40Qjn; where Q = nq
• Solve these two equations for q and n.
• To create graphs, complete the following steps:
o Open a new worksheet
o Use column A to store possible values of the market

quantity. Put zero in the second row. Enter the formula =a2+
100 in the third
row. Copy this formula into rows 4-20.
o Enter the formula for market demand into the second
column (=720 - 0.5*A2)
o Enter the formula for the initial market supply into the
third column (=40*A2/100); where n=100 is the number of
firms in the initial
market.
o Enter the formula for the final market supply into the
fourth column (=40*a2/n); where n is the long-run equilibrium
number of
firms you computed in the previous step.
o Use scatter-plot to create a graph that shows market
demand and both the initial market supply and the long-run
equilibrium
market supply. Verify that the short-run and long-run
equilibrium prices and quantities are consistent with your
algebraic solution
values.
o Complete the following table:
Long Run Equilibrium
Output of each individual firm
Industry output
Number of firms
Format: Case Study One must follow these formatting
guidelines: double spacing, 12-point Times New Roman font,
one-inch margins.
Instructor Feedback: Students can find their feedback in the
Grade Center.
Rubric

Critical Elements
Exemplary
Proficient
Needs Improvement
Not Evident
Value
Section 1
Uses algebra and the Excel
No graph and analysis provided
10
spreadsheet to complete the
answer. Analyzes the cost
function using economics
,
vocabulary

(10)
N/A
N/A
(0)
Section 2
Uses Excel to create and graph
10
isoquant curves and scatter-
plot according to directions
(10)
N/A
N/A
(0)
Section 3
Uses a new Excel Worksheet for

10
cost (see Cost Tab) to complete
the directions for a short run
situation
(10)
N/A
N/A
(0)
Section 4
Represent and graph the firm's
10
MC curve according to

directions
(10)
N/A
N/A
(0)
Section 5
Represent a firm profit-
No table and analysis provided
10
maximizing level of output
according to directions
(10)
N/A
N/A
(0)

i
J
Section 6
Represent a competitive firm,
10
and the resulting profit
according to directions
(10)
N/A
N/A
(0)
Section 7
Submission meets "Proficient"
Uses Excel spreadsheet, algebra
Missing one or more of the
Does not include the majority
20
and extends explanation to
to determine costs along with a

factors to completing the
of the assignment components
include additional reasons for
discussion using economic
assignment
the entry into the market
vocabulary, variables, and
reasoning to make an argument
for (or against) entry into the
market
(18-20)
(16-17)

(14-15)
(0-13)
Section 8
Submission meets "Proficient"
Follow the steps in the Case
Missing one or more of the
Does not include the majority
20
and extends explanation to
Study One document to create
factors to completing the
of the assignment components
include additional reasons for
required graphs, scatter plots
assignment
the strategic plans for long-run
and tables to support strategic
equilibrium market
plans for long-run equilibrium
market

(18-20)
(16-17)
(14-15)
(0-13)
Earned Total
100
Comments:
---------- ---- - --
-----------
ECO 520 Milestone Three: Market Competition and Firm
Strategies Guidelines and Rubric
Overview
In your final project, you will analyze an investment
opportunity applying key components of advanced
microeconomics theories to typical business decisions.
You will assume the role of an entrepreneur, and you will
conduct an analysis focusing on an investment opportunity of

your choice. In your analysis you will
carefully evaluate key factors influencing the demand for the
product, cost and supply issues, the role of market structure,
and competitive analysis on firm
strategy. You will also analyze the effects of government
regulations and market intervention on potential profitability,
and you will use price and non-price
strategies to support product introduction. You will then
evaluate the potential financial viability of the proposed new
product using approximate figures and
determine whether or not to recommend investing in the
development and commercialization of the investment
opportunity to your business partners.
Prompt
In task 7-2 you will evaluate the market structure and influences
on firm strategies and profitability for the investment
opportunity chosen for your final project.
You will also evaluate the effects of government regulation and
intervention that may affect your business. For example, this is
where you would discuss how well
the market operates and include examples of aspects market
performance specific to your selection. Is it efficient? Does it
produce good outcomes? Why or one
why not?
In this milestone, you will submit a 3-5 page paper that includes
the following:
1. Market Structure:
a. Market Competition: What is the existing and potential
market competition? How do these companies affect the firm's
strategies and
profitability? This is where you would discuss the type of
competitors, number of competitors, and barriers to entry.
b. Firm Strategies: What are potential price and non-price
strategies that the firm might use and what are their
relationships to the market
structure? For example, discuss a strategy that would support

the success of your product. Depending on how the industry is
structured you
might discuss how it is consistent with the market structure.
Perhaps you would address how it is different. Once you
address this, you would
discuss how your choice provides an advantage in the market.
2. Effects of Regulation and Intervention:
a. Policies: Identify policies or regulations at the local, state,
or national level that could potentially affect your business.
What are the reasons for
these policies or regulations?
b. Effects of Intervention: How do these policies or
regulations affect your ability to compete and profitably operate
in your business? Include
examples specific to aspects of market performance to support
your conclusions. For example, some forms of regulation, such
as patent
protection, may afford more profit opportunities while others,
such as environmental regulations, may add to your costs.
Format: The market competition and firm strategies paper
should follow these formatting guidelines: 3-5 pages, double
spacing, 12-point Times New Roman
font, L-inch margins, and citations in APA format.
Grade Center.
Rubric
Critical Elements
Exemplary
Proficient
Needs Improvement
Not Evident
Value
Market Competition
Meets "Proficient" criteria and
Assesses market competition

Assesses market competition
Does not assess market
20
qualifies with economic
for impact on firm strategies
but with gaps on their
competition
concepts that enrich and extend
and profitability
associated impact on firm
the claims
strategies and profitability
(18-20)
(16-17)
(14-15)
(0-13)
Firm Strategies
Assesses potential firm price
Assesses potential firm price
Does not assess potential firm

20
and non-price strategies for
and non-price strategies but
price and non-price strategies
their relationship to the market
aspects of their relationship to
the claims
structure
the market structure are
unclear
(18-20)
(16-17)
(14-15)
(0-13)

Policies
Identifies policies or regulations
Identifies policies or regulations
Does not identify policies or
20
at the local, state, or national
at the local, state, or national
regulations at the local, state, or
levels that may affect business
levels that may affect business
national levels that may affect
the claims
explaining the reasoning for
but with gaps in explaining
business
these policies
reasoning for these policies
(18-20)
(16-17)

(14-15)
(0-13)
Effects of
Describes the potential effects
Describes the potential effects
Does not describe the potential
20
Interventions
of the identified government
of the identified government
effects of the identified
policies or regulations on the
policies or regulations but with
government policies or
the claims
firm's goals and performance
gaps on how aspects impact
regulations on the firm's goals
firm's goals and performance
and performance

(18-20)
(16-17)
(14-15)
(0-13)
Articulation of
Submission is free of errors
Submission has no major errors
Submission has major errors
Submission has critical errors
20
Response
related to citations, grammar,
spelling, syntax, and
spelling, syntax, or organization
organization and is presented in
that negatively impact
that prevent understanding of
a professional and easy to read

readability and articulation of
ideas
format
main ideas
(18-20)
jI6-17)
-
-------_ ... _------
(14-15)
(0-13)
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16,0);(0,0);(0,21500);(21416,21500)posrelh0posrelv0pib
n
o
3
3
II>
:::J
..•
Y!
ECO 520 Milestone Two: Production and Resources Guidelines
and Rubric

Overview
In your final project, you will analyze an investment
opportunity applying key components of advanced
microeconomics theories to typical business decisions.
You will assume the role of an entrepreneur, and you will
conduct an analysis focusing on an investment opportunity of
your choice. In your analysis you will
carefully evaluate key factors influencing the demand for the
product, cost and supply issues, the role of market structure,
and competitive analysis on firm
strategy. You will also analyze the effects of government
regulations and market intervention on potential profitability,
and you will use price and non-price
strategies to support product introduction. Using the above
analyses, the last step in your final project requires you to
model the potential financial viability of
the proposed new product using approximate figures. You will
determine whether or not to recommend investing in the
development and commercialization of
the investment opportunity to your business partners.
Prompt
In task 4-4, you will evaluate variables specific to production
and resource costs for the improvement of organizational costs
for the investment opportunity
chosen for your final project. In this milestone, you will submit
a 2-3-page paper that analyzes your investment opportunity
production and resources factors by
costs, constraints, and effects of technology. Your paper should
include the following:
• Costs: Assess what key non-price variables could be
expected to affect production costs of the new product. How can
these aspects be leveraged to
effect efficient methods of production and acquisition of
resources to improve upon organizational costs?
• Constraints: Assess constraints that could affect future
production and costs. How can these aspects be leveraged to

effect efficient methods of
production and acquisition of resources to improve upon
organizational costs?
• Effects: Assess the effect of potential technology changes
on production, costs, or competition. How can these aspects be
leveraged to effect efficient
methods of production and acquisition of resources to improve
upon organizational costs?
Format: The production and resources paper should follow these
formatting guidelines: 2-3 pages, double spacing, 12-point
Times New Roman font, l-inch
margins, and citations in APA format.
Grade Center.
Rubric
Critical Elements
Exemplary
Proficient
Needs Improvement
Not Evident
Value
Costs
Analysis of key non-price
Analyzes key non-price variables
Does not analyze of key non-
30
variables addresses how these
but with gaps in how these
price variables

aspects can be leveraged to
the claims
improve upon organizational
costs
costs
(27-30)
(24-26)
(21-23)
(0-20)
Constraints
Analysis of constraints
Analyzes constraints but with
Does not analyze constraints
30

addresses how these aspects
gaps in how these aspects can
can be leveraged to improve
be leveraged to improve upon
the claims
upon organizational costs
organizational costs
(27-30)
(24-26)
(21-23)
(0-20)
Effects of Technology
Assesses effects of potential
Assesses effects of potential
Does not assess effects of
30

technology for how these
technology but with gaps for
potential technology
how these aspects can be
i
the claims
leveraged to improve upon
costs
organizational costs
(27-30)
(24-26)
(21-23)
(0-20)
Articulation of
Submission is free of errors

Submission has no major errors
Submission has major errors
Submission has critical errors
10
Response
spelling, syntax, and
organization and is presented in
that negatively impact
that prevent understanding of
a professional and easy to read
readability and articulation of
ideas
format

main ideas
(9-10)
(8)
(7)
(0-6)
Earned Total
100
Comments:
Put to the test: as genetic screening gets cheaper and easier, it's
raising questions that health-
care providers aren't prepared to answer
The American Prospect, November 2010
When my children were born in the mid-1990s, new parents
could already see that prenatal genetic

testing was altering the terrain of pregnancy and childbirth.
Growing numbers of educated women were
having children at older ages, with resulting difficulties and
risks. More and more parents faced
challenging, deeply personal decisions about whether to engage
in genetic testing and what to do if they
received unfavorable results.
I remember my own anxieties when my wife, Veronica, took a
blood test that searched for elevated
alpha-fetoproteins, which are associated with diverse ailments
ranging from spina bifida to
anencephaly. The mere prospect of these rare conditions--and
even the choice to undergo the tests--
was surprisingly painful. At least genetic counselors and other
professionals were available to help guide
us.
By that point, amniocentesis had been in wide use for more than
two decades. As researchers identified
the genetic markers associated with a growing list of important
conditions, educated, secular, and
affluent communities began to embrace genetic testing. A small
but lucrative market in assisted
reproductive technologies quickly emerged, which provided
parents with greater control over the
genetic characteristics of their offspring. In some parts of
America, new diagnostic technologies
provoked unease regarding their eugenic potential.
In retrospect, these innovations were incredibly tame.
Technological limits, cost, intrusiveness, and risk
constrained the scope of screening efforts. Roughly one in every
200 amniocenteses resulted in
miscarriage, which made the procedure too risky to justify
screening the full population of pregnant

women. The human genome had yet to be sequenced. Newborn
screening was routinely used to
identify a handful of important metabolic disorders, but it was a
very expensive process. There was a
certain clarity, too. The most common use of amniocentesis was
(and remains) to detect conditions
associated with very serious physical or intellectual disabilities.
When such conditions were detected,
most parents chose to terminate the pregnancy.
Fast forward to 2010. Prospective parents can now be tested
before pregnancy, and those found to be
carriers for serious conditions have the option of in-vitro
fertilization, whereby embryos can be pre-
tested for genetic markers associated with Alzheimer's disease,
hemophilia, muscular dystrophy, Tay-
Sachs disease, and more. Many of these same markers can also
be detected by do-it-yourself genetic-
testing kits, which are beginning to appear on the Internet and
on drugstore shelves. Walgreens may
soon sell a cheap home test that covers 37 genetic conditions.
(Sales are postponed pending approval by
the Federal Drug Administration.) You will soon be able to buy
a test kit online, mail a finger-stick blood
sample or a saliva swab to a lab, and receive an e-mail
containing your detailed DNA workup a few days
later. In the not-too-distant future, researchers note, you will be
able to purchase your complete genetic
sequence encoded onto a chip for $1,000, or maybe even as
little as $100.
If you've recently had a child, you might be surprised by the
number of rare conditions for which she

was screened in the hospital nursery. All 50 states test newborns
for sickle-cell disease and for cystic
fibrosis. The emergence of a single technology, tandem mass
spectrometry, now allows newborn-
screening programs to simultaneously test for dozens of traits
for roughly $10 per blood sample. This
dramatically expanded the scope of newborn screening. In 1995,
the average state mandated newborn
screening for five conditions. By 2005, this number had
increased to 24. The American College of
Medical Genetics now recommends that babies be screened for
more than 50 primary and secondary
disorders.
Yet knowledge of genetic markers does not always bring
clinical benefits. Many optimistic accounts of
the future of genetics fail to consider the full costs and
implications of widespread screening: How will
these technologies be regulated? How should public-health
authorities and health-care providers-not to
mention patients and their families--respond when unsettling
results are found? Will patients and their
families even understand the complex options available to
them? Research suggests that patients often
make poor decisions based on genetic information and that
doctors don't do much better. We face an
embarrassing mismatch between our lofty aspirations of
personalized genomic medicine and the
everyday capacities of our medical-care system. As Hank
Greely, director of Stanford's Center for Law
and the Biosciences, told The Washington Post, "Information is
powerful, but misunderstood
information can be powerfully bad."
As we identify new genetic markers associated with disease, and
the immediate costs of screening drop

precipitously, Greely's warning is increasingly relevant. It's
often unclear why we should screen millions
of newborns for genetic traits. Are we helping parents with their
reproductive planning or just allaying
their anxieties about a baby who somehow appears different?
Are we helping children through early
diagnosis and treatment or are we stigmatizing them and thus
doing harm?
At least in the short term, genetic testing is raising more
questions than it's answering.
ALMOST SO YEARS AGO, THE WORLD HEALTH
Organization commissioned James Maxwell Glover
Wilson, a British public-health leader, and Gunner Jungner, a
Swedish clinical chemist, to develop a
framework to address the issues surrounding early disease-
detection efforts. In 1968, Wilson and
Jungner published 10 principles to govern public-health
screening, which remain essential guideposts in
America and around the world. These principles require that
screening specifically benefits the screened
population and that the costs (including counseling and
treatment) are reasonable. Informed consent
and confidentiality also play an important role. When the
Wilson-Jungner criteria are not met--for
example, in testing people who display no symptoms to find out
if they are carriers of genetic disorders-
-ethicists generally oppose mandatory universal screening.
The Wilson-Jungner criteria raise complex issues even when
applied to familiar conditions such as Down
syndrome. These issues become even more difficult--ethically,

organizationally, and medically--when
one considers more complicated genetic disorders such as
fragile X. Though you've probably never
heard of it, fragile X is the most common heritable form of
intellectual disability. In 1943, J. Purdon
Martin and Julia Bell identified the disorder's X chromosome-
linked genetic footprint by tracing
inheritance patterns in one family that included 11 disabled
males. Although a chromosomal test has
been available since 1969, fragile X's specific genetic
mechanisms were not discovered until 1991--a
breakthrough that Nobel Prize winner James Watson called "the
first major human triumph of the
human genome project."
Fragile-X syndrome arises from a particular repeated sequence
of amino acids on a gene of the X
chromosome--the more repeats, the more severe the mutation is
likely to be. If the repeated sequence
is long enough, our cellular quality-control system suppresses
production of a critical protein. People
with more than 200 repeats are defined as having the full
mutation, though there is no firm threshold
for disability. An estimated one in 3,800 males exhibits the full
mutation, and about 90 percent of those
with the full mutation will display low IQ, characteristic
physical features such as an elongated face and
macroorchidism (grossly enlarged testes), and behaviors such as
hand-flapping and palm-biting. People
with fragile-X syndrome are often very shy with attention
deficits, hyperactivity, and sensory issues.
About one-fourth of boys with fragile-X syndrome also satisfy
diagnostic criteria for autism. Girls and
women affected by fragile X experience more varied symptoms,
because their other X chromosome
provides some protection. An estimated one in 2,400 females

carries the full mutation, and, according
to one widely-cited estimate, about 25 percent of females with
the full mutation have IQ scores below
70, the usual threshold used to define intellectual disability.
To further complicate things, perhaps 90 percent of people who
would be identified by current fragile-X
screening tests are "premutation carriers." Like those with the
full mutation, premutation carriers have
an abnormal number of repeats, yet fewer than are typically
required to cause fragile-X syndrome. For
premutation carriers (and for a minority of those with the full
mutation who display few symptoms),
screening is beneficial mainly for reproductive planning.
Because the number of repeats tends to grow
over generations, carriers may have children with the full
mutation. Premutation carriers themselves
also face distinctive medical risks. Men may display
Parkinson's-like syndromes later in life. Women face
elevated risks of premature ovarian failure. Both genders face
potential learning disabilities, attention
problems, anxiety, and depression, with symptoms being more
severe among men.
Fragile X can be difficult to diagnose. Two people with the
same number of repeats can display very
different symptoms, sometimes no apparent symptoms at all.
The loose association between genetic
markers and disease--what clinicians call the genotype-
phenotype mismatch--complicates both
treatment and policy. Of course, diagnostic delays could be
avoided if the entire newborn population
were screened. But pediatricians, geneticists, and medical

ethicists disagree about whether and when
newborn fragile-X screening actually satisfies the Wilson-
Jungner criteria. Nearly everyone agrees that
our medical and public-health systems are unprepared to do this
screening well.
Moreover, the challenges and ambiguities associated with
fragile-X screening will arise with many other
conditions in coming years: Is it cost-effective to screen
millions of newborns to identify perhaps just
1,000 per year who might be helped? What should we tell the
parents of premutation carriers? Could
screening stigmatize newborns for whom genetic information
may provide no immediately useful
information for treatment or services? Would parents provide
informed consent before their newborns
were screened? If so, how would this process work? What can
we do to help families in the event of
unfavorable test results? And, perhaps most crucially, what is
our game plan for actually providing this
help?
OUR PUBLIC-HEALTH SYSTEM IS MOBILIZED to do one
kind of screening efficiently on a mass scale:
newborn screening. If one wants to reach every American, this
is the way we generally do it. For
example, public-health authorities screen nearly every American
infant for phenylketonuria (PKU), a
devastating but readily treatable condition. Early PKU treatment
has prevented permanent and
profound intellectual disability among many thousands of
children.
With these benefits of early diagnosis in mind, Donald Bailey of
the Research Triangle Institute recently
spearheaded one of the largest epidemiological studies of

fragile X ever performed. More than 1,000
parents of children diagnosed between 2001 and 2007 were
surveyed regarding their experiences.
These parents reported that they first became concerned when
their sons were about 12 months old.
Yet on average, these children did not receive a proper genetic
diagnosis for another two years, and the
delay was even longer for gifts. Parents often spend thousands
of dollars chasing false leads, in what is
sometimes labeled the "diagnostic odyssey." They also have
other children before the correct diagnosis
is made. In this same study of children with fragile-X
syndrome, 27 percent of boys and 39 percent of
girls had a younger sibling with the full mutation before they
themselves were diagnosed.
Many families are treated cruelly or incompetently in the
absence of proper diagnosis. "I knew
something was [amiss] right after I gave birth to Josh," wrote
one mother, Eileen, on a fragile-X listserv
operated by Emory University. "I went to numerous doctors
because he was failing to reach his
developmental milestones. I begged one doe to prescribe some
early intervention therapy, and he
laughed at me. My sister's son was diagnosed with fragile X,
and I went searching for answers." Eileen
eventually ordered a fragile-X test, which revealed the full
mutation. For obvious reasons, many parents
who endure such experiences are strong advocates for newborn
screening. As Eileen puts it, "It was
because of me not giving up that my cousins learned why their
siblings have odd behaviors and how
they can be treated." (Genetic information has its downsides,

too. "It always makes us nervous when we
hear people say, 'I want to be tested because I want to find out
if it came from her,'" says Dr. Darrel
Waggoner, director of human genetics at the University of
Chicago Medical Center, who has counseled
hundreds of families.)
Genetic screening can help physicians make the diagnosis and
link families with knowledgeable experts.
That's one good argument for clinical guidelines to recommend
testing children with specific symptoms
and difficulties. Given the sheer number of rare genetic
conditions, it is unsurprising and, to some
extent, unavoidable that health-care providers will be ignorant
about some of them. When I spoke with
10 parents about their experiences with fragile X, every one of
them indicated that their child's general
pediatrician didn't know basic facts about the condition and was
therefore ill-equipped to provide skilled
treatment or (in some eases) to properly explain the results of
genetic tests. Such ignorance renders
newborn screening both more essential and less effective than it
should be.
When Donald Bailey initially decided to study newborn
screening, he was surprised, he says, to get "a lot
of pushback. The more I talked to people about it, the more I
realized that the issues were much more
complicated than I realized." For conditions like fragile X,
many people who are screened will find out
they have the disorder but will derive no immediate benefit
from this information. Premutation carriers
have strong reasons to know their genetic status for future
reproductive planning, yet it's not clear
whether these carriers otherwise benefit from being diagnosed
as newborns. Similar questions arise for

the minority of individuals with the full mutation who appear
only mildly affected or who display no
apparent symptoms.
Some clinicians believe early diagnosis is still valuable for this
group, especially to address prevalent
concerns such as anxiety and depression that might otherwise be
overlooked. One clinician commented,
"I've actually never seen someone with a full mutation who is
completely normal." Others regard this as
overstated and worry about stigmatizing people who lack
tangible fragile-X symptoms. As one parent
told me: "The worst thing was being told by the genetic
counselor that I was 'extremely high functioning
for the number of repeats' that I had.... I have a master's and
bachelor's degree."
Promising treatments are now on the horizon for fragile-X
syndrome. These are not cures, but they may
modestly improve social functioning. As better treatments
become available, they will strengthen the
ease for newborn screening, at least for the full mutation. The
development of effective drugs to
address the specific mechanisms behind fragile-X syndrome
would create "a whole different game," says
University of Chicago pediatrician and ethicist Lainie Friedman
Ross. "But, right now, first of all, we
would tell you that if you had a [son with the full mutation], he
needs occupational, physical therapy,
speech therapy. What do you tell a mother who has a girl with
fragile X? When one-third won't need
those services ever and another one-third may or may not and
only one-third definitely need it?"

Even if doctors can pinpoint the best treatment, they are likely
to struggle in explaining it to families.
Our health-care system is ill-prepared to help patients
understand and respond to complicated genetic
diagnoses. Most parents aren't familiar with basic genetic
concepts, let alone with complex disorders
such as fragile X--and bringing them up to speed is a costly and
difficult process. Current newborn-
screening programs are cheap precisely because parents play no
active role unless a diagnosis is made.
PKU screening prevents profound disability in less than one out
of every 10,000 U.S. newborns.
Although PKU is rare, screening is still very cost-effective. The
lab test costs only a few dollars, and the
process imposes little burden on patients, their families, or the
medical system. When PKU is found,
early treatment prevents profound, permanent impairment.
If, in contrast, newborn screening were to require informed
consent, parents would need real time and
attention from skilled professionals. Even if the lab tests
themselves were free, this would pose an
economic challenge, especially in screening for rare conditions.
Suppose that parents require a $50
counseling session to provide genuine informed consent and that
about 3,000 newborns were screened
for each identified case of fragile-X syndrome. Although early
diagnosis and treatment are surely
valuable, the benefits are far less dramatic than those associated
with, say, early PKU treatment. That
same $150,000 could provide a fragile-X patient with years of
extensive services. When you consider
that many conditions subject to newborn genetic screening are
rarer than fragile X, the economic and
logistic challenges become even more daunting.

"We see a lot of families who are now coming to see us because
of a documented genetic condition, not
screening," Waggoner says. "Our job is to counsel them about
what that means, and what the genetics
is, and its implications. We work real hard at it, and try real
hard, and spend hours with them.... If you
were to go interview those people two hours after their visits
with us, the amount of information that
they could accurately now give back to you ... is probably really
limited."
In most cases, it's relatively uninformed generalists--not experts
on genetic disorders like Ross and
Waggoner--who provide diagnostic workups for children with
developmental difficulties. As Ross notes,
genetics remains outside most providers' training and daily
routine. In the ease of fragile X, a general
pediatrician who treats 10,000 children over her career might
encounter three patients with the full
mutation, and perhaps 40 premutation carriers, many of whom
would presumably go undetected.
That's a poor experience base to provide effective diagnosis and
care. In one recent survey, 47 percent
of pediatricians didn't know that females could be affected by
fragile-X syndrome. Only 28 percent knew
that carriers can have adult health problems. Even if doctors are
knowledgeable, genetic counseling
competes for time with other important tasks that must be
accomplished in a 15-minute pediatric visit.
Ross describes the tradeoff: "I can either sit here and explain to
you about the fact that your daughter
has reproductive risks 25 years from now ... or I can make sure

that your breastfeeding is going OK."
In the United States, there are an estimated 2,500 genetic
counselors who are trained to conduct these
complicated conversations. That's about one counselor for every
1,600 newborns each year. And
medical students aren't exactly clamoring to make genetics their
specialty: According to one report, 58
percent of graduate medical education slots in clinical genetics
went unfilled. Given these realities,
general pediatricians and internists will remain patients' main
information source.
Researchers are exploring how to do newborn fragile-X
screening better, thanks to a large pilot study
funded by the National Institutes of Health. At three leading
centers of fragile-X care, researchers are
exploring which families agree to have their newborns tested,
whether parents of carriers regret
participating in the screening program, and the impact of such
diagnoses on parental well-being and
bonding. Such methodical research will take time, but we
already know several important things.
First and most obvious, from an economic perspective, we are
overly focused on the declining direct
costs of laboratory tests when we should be worried about the
overall cost of newborn screening,
especially if informed parental consent is required. Second, our
society places a great burden on
prenatal and newborn screening to address issues that
prospective parents should tackle long before
that point. And third, much needs to be done to educate health-
care providers and otherwise improve
the care provided to people affected by genetic conditions.

These basic issues must be confronted before personalized
genomic medicine becomes a useful
everyday reality for millions of people. We continue to pump
money into research and advanced
treatments for conditions influenced by detectable genetic traits.
That's good. We must support the
everyday patient and provider experiences of genetic screening
and care with equal vigor.
Harold Pollack is Helen Ross Professor of Social Service
Administration at the University of Chicago.
Pollack, Harold

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