CASE STUDIES ON GENETICS

Mrs. Ofelia Solano Saludar

CASE STUDY #1: GENE PATENTING

Dr. Leila de Luma and her company, Genmania, have spent years working to
identify how the gene for albinism works. The mutation in this gene causes no
pigment to be produced in the hair, skin or eyes. Identifying the gene would open
the door to curing the condition. Finally, her team succeeds.
But the years spent on research were expensive. One way to make back that
money is to patent the gene that team members just identified. Then, anyone who
wanted to develop either treatments or tests would have to pay a fee to use the
gene. When a patent is submitted to the government, the company must prove that
the item to be patented is original and patentable.

1. What do you think about patenting a gene that already exists in the human
body?
2. Should the government allow this gene to be patented? Why or why not?
3. Some think that genes should not be patented because they are a medical
discovery and not an invention, and everyone should be allowed to use the
information without paying. What do you think?
4. If, in the future, Genmania develops a test for this gene, should they be allowed
to patent the test? Why or why not?

CASE STUDY #2: THERAPY VS. ENHANCEMENT

Scientists in New Jersey have recently inserted a gene to create a mouse with
increased capacity for learning and memorybasically, a gene that increased the
animal's intelligence quotient (IQ). Normal, average human IQ is about 100. An IQ of
about 70 or below is considered to indicate mental disability. Although currently
highly theoretical and perhaps impossible, it might in the far future become possible
to insert a human gene identified through the Human Genome Project to increase
human IQ by 30 points. Consider these two scenarios:
A couple has a 5-year-old son with Downs syndrome with an IQ of 70. They
want to use gene therapy to insert a gene to increase the IQ of their son from 70 to
100 in order for him to function normally. This is considered gene therapy, where
technology is used to help a person function better.
A second couple has a 5-year-old son with an IQ of 120. They want to use the
technology to bring their son's IQ up to 150. They feel he would then have a better
chance to get accepted to a more prestigious university. This is called gene
enhancement, where technology is used to help a person who is already at or above
functioning levels to enhance a particular characteristic even more.

1. Should gene technology be used for gene therapy? Why or why not?
2. Should gene technology be used for gene enhancement? Why or why not?
3. Who should decide? Parents? Doctors? Government? Society? Someone else?

CASE STUDY #3: NEWBORN SCREENING

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 The first child of the Ampatuans is just born. Marsha had a perfectly normal
pregnancy and continued working until one week before the baby's birth. Al and
Marsha's son appears, at birth, to be perfectly normal. It is quite a surprise when
the doctor calls them a few days after they take the baby home and asks them to
bring him in for more tests. The doctor asks that both the mother and father come
along because he wants to talk to them.
In his office the doctor says that a blood test was done while the baby was in
the hospital as required by law. The test shows that the baby might have a genetic
disease called phenylketonuria (PKU). However, more tests are needed to be sure.
The Ampatuans were told not to worry because there was a treatment for the
condition. But neither Marsha nor Al has ever heard of the disease nor has anyone
in their family.

1. If all newborns are going to be screened, should parents have a chance to

refuse? Why or why not?
2. If you were the Ampatuans, what would you do next?
3. Should screening for diseases or defects be allowed when there is no cure or
treatment? Why or why not?
4. Why might someone not want their child screened?
5. In the future, many more tests for genetic conditions will be available. Should we
test all newborns for these, too? Why or why not?

Case Study # 4: GENETIC DISCRIMINATION

Lolong Dimagiba is 30 years old when his father dies of complications of

Huntington's disease, a genetic condition that usually does not show up until a
person is 35-40 years of age. Huntington's is characterized by a slow progression of
physical and mental deterioration leading to death.
There is now a test available for the status of the Huntington's gene and Lolong
opts to be tested. He discovers he has the Huntington's mutation and faces a
situation similar to his father's. This is called presymptomatic testingchecking for
the presence of a harmful gene before any symptoms appear.
Somehow, Lolong's health and life insurance companies learn about the results
of his test and both cancel his protection. Then he is released from his job where he
had worked faithfully for more than 8 years. Company officials are afraid the
medical costs of caring for his future medical complications will increase the group
insurance rate.

1. What would you do if you were Lolong?

2. Should the company be allowed to make decisions based on medical information
from Lolong's DNA? Why or why not?
3. Should the company be able to make Lolong's information available to other
companies he is interviewing with? Why or why not?

Case Study #5: WHO MAY SEE THE RESULTS OF DNA TESTING?

In 1990, Robert Bagonghasa was employed by the Institute. It was the job he
had always wanted because his degree was in chemistry, but when he graduated
there were very few jobs in the industry and he had done other work for five years.

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 Robert has worked for the Institute for 10 years and rarely has thought about
the physical exam they had made him take at the time of his employment. They
had explained that blood was being taken for genetic testing and that this
information, along with other medical information, would remain within the
company and that only he could have access to it. He asked why this was being
done and they said it was for insurance purposes.
Very recently a neighbor of Robert's was murdered. The police had no suspects,
but they were looking in the neighborhood. They questioned Robert and told him
that they had some blood from the crime scene and were trying to find a match for
it. They asked if Robert would give them a blood sample. Meanwhile, the police
learned that Robert worked for the Institute. They contacted the company asking for
the DNA profile they compiled on Robert when he was employed.

1. Should the company give Roberts profile to the police? Why or why not?
2. Should Robert volunteer to give his blood to the police? Why or why not?
3. Is there some way that Robert can stop the Institute from giving his profile to the
police?
4. How could Robert have avoided this dilemma?
5. If Robert is accused of this crime, should the court admit this evidence? Why or
why not?

Case Study #6: WHEN IS CLONING AN OPTION?

Antonio Kaliskis is a rich businessman in Laguna. Being rich, however, doesn't

keep tragedy from happening to you. One day his 5-year-old daughter, Antonia was
crossing the street and was hit by a drunk driver. By the time the ambulance came,
she had suffered serious brain damage. In the emergency room, doctors put her on
a respirator, and her heart was beating normally. Mr. Kaliskis was told that she
probably would never regain consciousness. He was devastated.
In Laguna, a group of scientists was working on cloning a cow from the body cell
of a cow that was a high milk producer. They used Mr. Kaliskis' property for their
herd, and he had been following their progress. As a businessman, he saw the
potential for the process. Now, as a parent, he had another idea.
Dr. Irene Paloypoy was the head scientist on the project. Mr. Kaliskis called her
several weeks after the accident. He told her he was willing to spend every cent he
had to bring his daughter back. He wanted her to clone his daughter from one of her
body cells.

1. Give 3 reasons why Dr. Paloypoy should not clone Antonia, and 3 reasons why
she should.
2. If Mr. Kaliskis offers her not only money, but future funding for her research,
should this make a difference in Dr. Paloypoy's decision?
3. Dr. Paloypoy would be the first to clone a human, and she could have the most
modern laboratory with everything that she could possibly need. Should this play
a part in her decision?
4. Should scientists do everything that they are technologically capable of doing?
Give 4 arguments to support your answer.
5. Will there be a market for human cloning? Why or why not?

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 Case # 7: MY GENES MADE ME DO IT!

Cybill Wrights had been a criminal attorney for several years and had handled a
number of murder cases. She thought this case was one of the strangest. Her client,
Al Koholic, had murdered a pizza deliveryman who had stopped to ask for directions.
He bragged about it to his friends which led to an arrest and confession. When
interviewing some of Als relatives for the penalty phase of the trial, Cybill came
across some interesting information. Almost all of his immediate male relatives were
in prison for violent crimes.
This reminded Cybill of an article she read in the paper a few months before. It
was about a study done in Europe of a family with a condition called MAOA
deficiency. The genetic defect for this condition is on the p11 area of the X
chromosome, the gene locus for the production of monoamine oxidase A (MAOA).
MAOA is known to help metabolize serotonin, dopamine and noradrenaline, brain
chemicals known to play a role in aggressive and potentially dangerous behavior.
Those with the defective gene show a decrease in the enzyme's (MAOA) activity. A
large number of males in the European family showed minor mental retardation and
abnormal behavior that included impulsive aggression.
Serotonin, has long been implicated in animal studies as a mediator of social
behavior. Scientists now believe that low serotonin levels can lead to all kinds of
problems. Impulsive killers and other violent offenders have been shown by Dr. Tan
Duay, the scientific director of the National Institute on Alcohol Abuse and
Alcoholism, to have low serotonin levels.
Cybill thought that she might have a chance to save Al from the death penalty if
she argued he was predisposed to uncontrollable aggressive behavior. She filed a
brief with the court asking that her client be tested for the condition.

1. If the judge asks for a hearing on the issue, what should Cybill do to support her
case? Suggest 3 arguments that she might make.
2. Suggest 3 possible arguments against the testing that the prosecution might
make.
3. If Al has the condition, should his sentence be less? Why or why not?
4. Als father and uncle are in prison for murder. His mother has had no violent
episodes but his uncles son has already (at age 10) been in trouble for fighting
in school. Draw this pedigree, assuming that the condition exists in the family.
5. The judge has the ultimate decision as to whether scientific evidence can be
presented in court. How do you think this precedent will effect Cybill's case,
especially if the judge doesnt really understand genetics?

Case # 8: WHO BENEFITS FROM GENETIC SCREENING?

Edgar Allan Pe has applied to MicroHard Corporation, an electronics company,

for a job. During the interview, the human resources person, Ligaya Bagonggahasa,
tells him that he must submit to a physical examination that includes a number of
detailed blood tests. When Edgar asks what tests will be performed, Ligaya says,
"Oh, they are some genetic tests. Nothing to worry about." Edgar is asked back for 3
interviews and it seems as though he will be offered the job.

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 A week goes by and Edgar hears nothing. He really needs this job and it is in his
field. The company is close to his home; the pay and benefits are excellent. Because
he has a new baby, its extremely important for him to find a good job.
After another week Edgar calls Ligaya. She asks him to come in for a talk. She
tells him that his genetic test (CBD screening) showed that he was genetically
predisposed to a blood condition if exposed to beryllium. The job that the company
was going to offer him was working directly with the chemical. Edgar is confused
and asks if he would have been offered the job if his test was negative for CBD.
Ligaya says, "Probably." After going home and thinking about it, Edgar calls her back
and says, "I dont care about the danger, I want the job."

1. What should Edgar do? Suggest 3 things.

2. Suggest 3 things that the company should have done before they interviewed
Edgar.
3. What should the company have done when Edgar's test results arrived? Suggest
3 things.
4. List 3 legal ramifications evident in this case.
5. If the company had not told Edgar why he wasnt hired, would they have been at
fault?
Case # 9: THE SOURCE OF TRANSPLANTS

It looked like just an ordinary farm. They had mostly ordinary pigs but what was
not obvious was that these pigs had been genetically engineered. A human gene on
the p arm of chromosome 6 had been spliced into their genome. These experiments
were done so that the organs of the pigs (livers, hearts and kidneys) would be
histocompatible with humans. The company that owned the farm realized a number
of years ago that a shortage of human organs for transplant would make
xenotransplantation a necessity.
Philip Eno had been on the transplant list for a kidney for 5 years. His kidneys
were deteriorating due to hereditary polycystic kidney disease, and he had been on
dialysis for about 7 years. When an article was published in the paper about the pig
farm he called his doctor. He asked if he could be involved in the human trials that
were being discussed in the article. His doctor didnt know.

1. List 3 courses of action that Philip might take next.

2. One FDA requirement about experimental treatments is that long and stringent
animal testing be done before tests are performed on humans. Why doesnt that
apply to this case?
3. If the company were doing human trials, what specifically should they look for in
participants? List 3 things.
4. If Philip is accepted into the trials, should his family take part in the decision
regarding his participation?
5. Would you accept an animal organ if it were available for a needed transplant?
Why or why not?

Case # 10: PUMPING UP WITH DRUGS?

Football has always been extremely important at Futbol State University. The
school is known for its aggressive, offensive team. The coach, Fred Tabucboc, has
been at the university for 15 years and has an impressive win/loss record. This year

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there were some problems with the team. Coach Fred couldnt figure out what was
wrong. The recruiting had gone very well, and he had a strong and well-trained
team, but they werent winning. Then he read an article about Human Growth
Hormone (HGH) and its use in physical training.
The article said that since the late 80s, recombinant DNA (rDNA) had been used
for creating human growth hormones for years. The drug has made it possible to
treat children born with a deficiency of growth hormone and has been used very
successfully.
But, parents of children without the hormone deficiency came to doctors asking
for the drug to make their children taller. These children were not abnormally short,
but they were on the short side of the normal curve. At the end of the article was a
small blurb about the effect of HGH on building muscle bulk in a training program.
There were no side effects because HGH is a naturally occurring substance and the
body can metabolize it well. Coach Fred thought it might be good for his team.

1. Should the College be told if the coach decides to suggest the hormone to his
players?
2. The HGH has to be administered by injection. Who should perform the injections?
3. If a player doesnt want to take the HGH, what should Coach Fred do?
4. Coach Fred has already approached a drug company manufacturing HGH. The
company will donate the drug and test the players for side effects. Should the
coach agree to this? Why or why not?
5. What are the legal ramifications of using HGH on his players?
6. What are the medical ramifications of using HGH on the players?

Case Study # 11: DECISIONS IN GENE THERAPY

Ricky Dimalanta, was born with mild cystic fibrosis (CF). Ricky will soon be
entering college and is very excited about it. Recently, there has been a lot of
publicity about the number of labs all over the country that are developing gene
therapy protocols for cystic fibrosis. Since Rickys case is mild, he is expected to live
a normal life span, but he will definitely pass the gene to his children. Unless he
marries a woman who is a carrier, his children will not have CF.
Recently Ricky read a comprehensive article about the Jessie Gelsinger case and
thought that Jesse was a hero. He talked to his parents at length about the case and
said over and over again that he wanted to look into doing something like that
himself. This really frightened his parents. They werent sure they could trust the
doctors doing the experimental therapy, but they thought it would be wonderful if
Rickey could be "cured".
Without telling his parents, Ricky contacted the doctor who was named in the
article. A letter came back stating that Ricky might be a good candidate for the
trials. After showing his parents the letter, Ricky tells them he wants to volunteer.

1. Ricky is not a minor. Should he be allowed to make this decision without his
parents consent? Why or why not?
2. Should the doctor accept Ricky, assuming that he is a good candidate for the
study? Why or why not?
3. List at least 5 things that should be included in the consent form that Ricky
signs.

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4. What legal problems might arise if Ricky volunteers for the study?

Case Study # 12: GENETICALLY MODIFIED AGRICULTURAL PRODUCTS

It was only the second meeting of the group, but everyone was excited. Rich
was going to run the meeting and he was hoping to have a large turnout at the local
school. As the meeting time approached, Richard Dicaguapohan and his friend Patti
Gasan began setting up chairs and placing leaflets around the room. This meeting
would address an important issue.
Many farmers in the area grew GMO corn and soybeans, but these crops were
used mainly in animal feed. A local company, Ingerm, Inc. was doing research on
genetically modified food. This company was working with tomatoes that produced
a protein to combat disease, as well as a variety of green bean that made its own
insect repellent.
Although the products were far from market ready, Richard and his group were
very worried about the possible outcomes. In other countries there have been
extensive protests against GM foods and Richard was in touch with some of the
protestors. He had some ideas from them. One of those ideas was to sneak onto the
property of the company at night and destroy the fields of growing GMO tomatoes,
strawberries and green beans. Richard was going to introduce this idea at the
meeting.

1. Should the group consider Richard's suggestion? Give 3 reasons why they should
protest in this way and 3 reasons why they should not.
2. What legal ramifications might occur if the organization proceeded with
Richard's plan?
3. Suggest 3 other protests that the group could try.
4. In some countries, some groups have done more than destroy property; they
have actually hurt scientists and their families. Is this an acceptable protest?
Why or why not?

Case Study # 13: DEALING WITH INFERTILITY

Lino Co and Mali Sia have been married for 6 years. Ever since they were
married they have been talking about having a baby. They seriously began trying to
have a baby about 2 years ago. For the past year they have been seeing an
infertility specialist, Dr. Maday-a.
After an initial interview, Dr. Maday-a suggested that they first check Linos
sperm count. Lino gave a sample, and indeed Linos sperm count was extremely
low. Lino had been born with an undescended testicle, which was removed from his
abdomen at age 11. At that time his mother had been told that there would be no
problem with fertility because he still had one functioning testicle.
Because Linos sperm count was so low, it was unlikely most of the assisted
reproductive techniques would work. But, Dr. Maday-a explained, there was a new
procedure, called intracytoplasmic sperm injection (ICSI) that could work along with
in vitro fertilization. In this procedure Malis eggs would be harvested and only ONE
sperm would be needed for injection. But there was a problem.

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 After going through the long process of hormone injections and egg retrieval
Mali had 10 eggs harvested, but Linos sample had NO sperm.
It was heartbreaking. Dr. Maday-a suggested that they try again with a sperm
donor as a back up. Then, if Linos sample had no sperm, they could fertilize with
the donors sperm.

1. Should Lino and Mali use a donor sperm? Why or why not? Give 3 reasons to
support your opinion.
2. What characteristics should they look for in a sperm donor?
3. Should their child be told that their father was a sperm donor? Why or why not?
4. Should their child be allowed to try to find the donor?
5. Some think that using ICSI perpetuates infertility. They reason that if Linos
undescended testicle were a hereditary defect, he might pass this trait to his
male children. Should infertile men use this technique? Why or why not?

Scott, a 30 year-old male, has a family history of Huntington's disease (HD).

Huntington's disease is a lethal condition that causes progressive neural
degeneration. Affected individuals often experience mental and behavioral
changes including paranoia, hallucinations and dementia, as well as physical
symptoms such as difficulty walking, slurred speech, and jerky movements. The
disease has a late onset; most affected individuals begin to show symptoms
between the ages of 30-50, although this may vary between families. A person
with HD will typically live 10-25 years after symptoms become apparent. Scott
learns that a genetic test for HD has been available since the mid-1990s and
decides to be tested. When the results are returned, Scott is told he has tested
positive for the genetic mutation that causes Huntington's disease and will,
therefore, eventually get the disease.
Meanwhile, Scott's wife, Catherine, discovers she is pregnant. Together they
decide to seek genetic testing for their unborn child to determine if the baby has
inherited the mutation and will be stricken with HD in adulthood. HD is an
autosomal dominant condition, which means the baby has a 50% chance of
inheriting the mutation from Scott. They will continue with the pregnancy
regardless of the results. Although there is no medical intervention possible to
stop the disease, they feel strongly that they want to know about their child's
future. At their next obstetric appointment, they inform the doctor of their
wishes. The doctor hesitates because the parents are requesting information
about a disease that will not affect their child until adulthood. At stake is the
unborn child's autonomy. Perhaps the child will NOT want to know if Huntington's
will strike in the future. But, by requesting the information during pregnancy, the
parents are precluding their child's free will. The parents counter that they will
be better able to prepare their child for the future and will know how to offer
appropriate emotional and psychological support.