CHICAGO, Illinois (Achieve3000, April 27, 2011). Were you born to be an elite athlete? Marketers of a
genetic test claim that for less than $200, they can answer that question. But could such an analysis
adversely affect the ambitions of aspiring sports superstars?
In recent years, scientists have identified several genes—in particular, one called ACTN3—that may play
a role in determining strength, speed, and other aspects of athletic performance. A variant form of ACTN3
triggers the production of a protein that affects fast-twitch muscle activity and has been linked with quick
bursts of strength, which are crucial for activities such as sprinting.
A handful of companies market mail-order test kits for determining whether children possess this variant
form of ACTN3. The test kit sold online by Atlas Sports Genetics (ASG) costs $169 and consists of two
swabs, which customers use to scrape cells from the inside of the cheeks. Customers mail back the used
swabs and receive the results several days later. According to Nat Carruthers, ASG's operations president,
the company has sold several hundred test kits since it began marketing them in 2008.
ASG customer Bradley Marston of Bountiful, Utah, purchased the test for his 10-year-old daughter
Elizabeth, who had a passion for soccer since age 4 and had demonstrated exceptional athletic prowess.
Marston was curious to learn whether his daughter possessed the variant form of ACTN3. However,
Marston was concerned that a negative test result might induce his talented daughter to forsake her dream
of someday becoming an Olympic athlete.
"She told me, 'Well, Daddy, I'd just have to try harder,'" Marston said, and so he went ahead with the test.
Marston was circumspect in his approach to the test, and he carefully prepared his daughter for whatever
the results might reveal. But is such an analysis a good idea for everyone?
Advocates of the test, including marketers of the product and many parents, say the answer is yes,
claiming that the test can help parents steer their children toward sports that require the quick bursts of
strength triggered by ACTN3.
"Our goal is to help people become the athlete they were born to be," said ASG's Carruthers.
But skeptics emphatically disagree, arguing that the test raises ethical questions and could potentially rob
perfectly capable youngsters of a chance to enjoy activities of their choice, be they non-athletic activities
or sports that do not require those quick bursts of strength.
"This is recreational genetics with a real serious potential for harm," said Dr. Lainie Friedman Ross, a
pediatrician at the University of Chicago. "People are going to think, 'If my kid has this, I'm going to have
to push real hard. If my kid doesn't have it, I'm going to give up before I start,'" Ross said. Instead, she
said, parents should "let kids follow their dreams."
Skeptics also argue that the science of how genes influence athletic ability is in its infancy and that
marketers' claims are based on gross assumptions. University of Maryland researcher Stephen Roth
specializes in exercise physiology and genetics. Roth has studied ACTN3 and found that roughly 80
percent of people worldwide possess the variant form of the gene that affects muscle activity. The fact
that such a tiny percentage of these people become elite athletes underscores that it takes more than genes
to make a sports star. In addition, some of the people who lack the gene variant do excel in sports, Roth
said, citing a Spanish long jumper who made it to the Olympics despite not having the variation of the
gene.
As for Elizabeth Marston, her test showed that she did in fact possess the quick-strength variant of
ACTN3. The young soccer player was happy with the results, but she knew it would take more than genes
to attain her goal of competing in the Olympics.
"I think I would have to train hard," Elizabeth said.
The Associated Press contributed to this story.
The term "genetic testing" covers an array of techniques. Many genetic tests examine human DNA, RNA,
or protein. Genetic tests are used as a healthcare tool to detect gene variants associated with a specific
disease or condition. Genetic tests can confirm a suspected diagnosis, predict the possibility of future
illness, detect a carrier state in unaffected individuals (whose children may be at risk), and to predict
response to therapy. Genetic tests are also used to gather information for paternity and forensic testing.
What Is Genetic Testing?
Genetic tests look for alterations in a person's genes or changes in the level or structure of key proteins.
Genetic tests can be used to look at levels of RNA. Certain results from these tests could mean that
someone has a genetic disorder. There are different types of genetic tests. Some are gene testing,
chromosomal tests, and biochemical tests.
Gene tests look for signs of a disease or disorder in DNA or RNA. DNA and RNA are found in a person's
blood and other body fluids. Gene tests can look for large changes. A large change might be when a gene
has a section missing or added. Gene tests also look for small changes. A small gene change might be that
something is missing, added, or the chemical base (subunit) within the DNA strand is altered. Gene tests
may also detect other problems with genes. Some genes might have too many copies. Individual genes
might be too active. Other genes might be turned off or lost entirely. Another type of gene test relies on
DNA or RNA sequencing. This test directly compares the base-by-base sequence.
Chromosomes are the large DNA-containing structures in the nucleus of a cell. Humans normally have 23
pairs of chromosomes. There are 22 pairs of autosomes (numbered 1 through 22) and 1 pair of gender
chromosomes (either XX for females or XY for males). Chromosomal tests look at features of a person's
chromosomes. These features include structure, number, and arrangement. These tests look for changes,
such as pieces of a chromosome being deleted, expanded, or being switched to a different chromosomal
location. Karyotype tests are one kind of chromosomal test. This test gives a picture of all of a person's
chromosomes from the largest to the smallest. It can identify changes in chromosome number and large
changes in DNA structure. This test can be used to identify Down syndrome. Down syndrome is caused
by the presence of an extra copy of chromosome 21.
Biochemical tests look at the amounts or activities of key proteins. Genes contain the DNA code for
making proteins. Abnormal amounts or activities of proteins can signal genes that are not working
normally. Chemical tests are often used for newborn screenings. For example, biochemical screening can
detect infants who have metabolic conditions such as phenylketonuria (PKU). PKU is a genetic defect.
People with PKU lack the enzyme that breaks down a certain amino acid (protein building block) called
phenylalanine. As a result, phenylalanine builds up to higher than normal levels in the body. This leads to
a variety of health problems. If diagnosed early, PKU can be treated. How? Infants can be put on a strict
diet that is low in phenylalanine. They can also be kept away from foods that are high in protein or that
contain certain artificial sweeteners.
Several agencies are involved in oversight of genetic testing. The Centers for Medicare and Medicaid
Services (CMS) regulates clinical laboratory testing to ensure laboratory compliance with the Clinical
Laboratory Improvement Amendment of 1988, showing accuracy and reliability in conducting assays.
The Federal Trade Commission (FTC) oversees advertising of tests and products. The Food and Drug
Administration (FDA) regulates tests sold as "diagnostic devices," or tests manufactured by one company
and then sold as a kit to a laboratory for genetic testing. However, the FDA does not regulate "home
brew" tests, or tests that are both manufactured and performed by the same laboratory. Many common
genetic tests (including the BRCA breast cancer gene tests) fall into this category. Because of this
regulatory exception, genetic testing services using home brew tests can be marketed directly to the
medical community—and the public—without FDA regulation or oversight.
Adapted from: The National Human Genome Research Institute, National Institutes of Health
1. According to the article "Born To Be a Sports Star?", what is the purpose of the ACTN3 test kit?

To determine whether children have an extremely rare genetic variant that may have a
negative impact on their athletic ability

To determine whether it is safe for a child to participate in high-impact sports activities at
school and in the community

To determine whether children have a variant form of a gene that may be instrumental in
determining certain aspects of athletic ability

To determine whether children have a genetic mutation that is guaranteed to allow them to
develop their athletic performance to a certain degree
2. Take a look at the following excerpt from "Born To Be a Sports Star?" What scientific evidence and
reasoning is offered to refute the claim that some people are "born" to be elite athletes? Click on the three
sentences that provide this evidence.
But skeptics emphatically disagree, arguing that the test raises ethical questions and could potentially rob
perfectly capable youngsters of an opportunity to enjoy activities of their choice, be they non-athletic
activities or sports that do not require those quick bursts of strength.
"This is recreational genetics with a real serious potential for harm," said Dr. Lainie Friedman Ross, a
pediatrician at the University of Chicago. "People are going to think, 'If my kid has this, I'm going to have
to push real hard. If my kid doesn't have it, I'm going to give up before I start,'" Ross said. Instead, she
maintained, parents should "let kids follow their dreams."
Skeptics also contend that the science of how genes influence athletic ability is in its nascent stages and
that marketers' claims are based on egregious assumptions. University of Maryland researcher Stephen
Roth, who specializes in exercise physiology and genetics, has studied ACTN3 and found that roughly 80
percent of people worldwide possess the variant form of the gene that affects muscle activity. The fact
that such a tiny percentage of these people become elite athletes underscores that it takes more than genes
to make a sports star. In addition, some of the people who lack the gene variantdo excel in sports, Roth
said, citing a Spanish long jumper who participated in the Olympics despite not having the variation of
the gene.
As for Elizabeth Marston, her test confirmed that she did in fact possess the quick-strength variant of
ACTN3, and while the young soccer player was happy with the results, she knew it would take more than
genes to attain her goal of competing in the Olympics.
"I think I would have to train hard," Elizabeth said.
3. According to the article "What Is Genetic Testing?", what are some of the uses of gene testing? Mark
three correct answers from the choices below.
Detecting gene variants associated with a disease or condition
Confirming a suspected diagnosis of a genetic illness
Predicting a future illness and response to therapy
Diagnosing viruses that are contracted from others
Predicting future genetic mutations
According to "What Is Genetic Testing?", how can biochemical screening help newborn infants live
healthy lives?

The screening can detect the need for an amino acid, which can be treated with medication if
caught early enough.

The screening can detect a condition called PKU, a buildup of phenylalanine, which can then
be treated with a strict diet.

The screening can detect the overproduction of an enzyme that breaks down an amino acid
that can be restored by following a strict diet.

The screening can detect a variety of health problems that can cause phenylalanine buildup if
not treated.
5. According to "What Is Genetic Testing?", what is a "home brew" genetic test?

A test that is performed by a doctor whose practice is not regulated by the FDA

A test that is manufactured and performed by the same laboratory facility

A test that is manufactured and performed in the office of a qualified physician

A test that is performed by a patient at home and then sent to a lab for analysis
6. Take a look at "At-Home Genetic Tests: Worth the Risk?" Why does the FTC recommend checking a
genetic test company's privacy policy?

Some at-home test companies may sell test results to drug companies without asking
permission.

Some at-home test companies post test results online, making the information available to
others, including marketers.

Some at-home test companies require patients to give private information in order to qualify
for the tests.

Some at-home test companies may reveal test results to doctors but not to patients.
7. Take a look at "Born To Be a Sports Star?" Explain what Dr. Lainie Friedman Ross meant when she
called ACTN3 testing "recreational genetics." Why did she object to the testing?
8.Take a look at "What Is Genetic Testing?" What kinds of things do genetic tests look for and why is this
important information? Use evidence from the text to support your answer.
9.Look at "At-Home Genetic Tests: Worth the Risk?" Explain what is meant by the statement that results of
genetic tests are not always "black and white."