Activity 2.1.1 Teacher Resource Sheet: Genetic
Counseling Case Files
Place each of the following case scenarios in individual file folders. Consider writing the
name of the patient on the folder tab as well as a fictitious patient ID number. This may
be a good time to review HIPAA and the ethics of patient privacy.
Feel free to come up with additional cases or to edit the case file information found
below to suit your students.
Allow student groups to choose a file or distribute a file to each group. Review the
requirements for the project and discuss expectations for exemplary work.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 1
BIOMED
GENETIC COUNSELING, INC.
CASE #1234567J- Tonya Jones
Tonya comes to the office to discuss her genetic testing results. Her father has been
diagnosed with Huntington’s disease and, unfortunately, Tonya has just learned that
she also has the disorder. She is 35 and has yet to show any symptoms. She has two
children, ages 8 and 10. She decides to see a genetic counselor to talk about how this
condition will affect her life and to learn more about her children’s chances of being
affected with the disease. Tonya is trying to decide whether or not to test her children
for the disease now or allow them to make this choice for themselves when they are
older. The more the children know about their own health, the better they can prepare
for their future, but is this her choice to make?
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 2
BIOMED
GENETIC COUNSELING, INC.
CASE #345673W- The Walters Family
The Walters family has just learned that their 3-year-old son, Alton, is showing the signs
of Fragile X syndrome. Mrs. Walters has three sisters, all of whom are possible carriers
of the disease. One of her sisters is currently ten weeks pregnant. The Walters want to
consult an expert so they have all of the information necessary to provide Alton with a
happy, healthy life. Mrs. Walters also wants to share information about the disease and
possible genetic tests with her siblings.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 3
BIOMED
GENETIC COUNSELING, INC.
CASE #987654M - Juliette Mason
Tall and thin for her age, Juliette is a star on her high school basketball team. Juliette’s
brother, also a basketball player, recently died of an aneurysm during a college playoff
game. Juliette’s parents are worried about her health and take her to the doctor for a
complete physical. It turns out that Juliette and her brother both suffer from Marfan’s
disease. Juliette is coming to a genetic counselor to discuss how this disorder will
impact her ability to play sports and to discuss how she should proceed when she
eventually decides to have children. Juliette is already being recruited for sports
scholarships at major universities.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 4
BIOMED
GENETIC COUNSELING, INC.
CASE #643222C – The Chang Family
The Changs have just given birth to their second child and are waiting to take the
newborn home. However, newborn screening revealed that the new baby, Jennifer, is
positive for phenylketonuria (PKU). The Changs are confused as their daughter looks
normal and the pregnancy had progressed with few complications. Mrs. Chang even
had a normal amniocentesis early in the pregnancy. The family is looking for answers
as well as advice on how to take care of their child. The Changs are very upset and feel
guilty for passing on a disorder to their new baby.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 5
BIOMED
GENETIC COUNSELING, INC.
CASE #555555S – The A. Smith Family
Aaron and Gina Smith have decided that they are ready to start their own family. They
are both young, 28 and 26 respectively, but they decide to see a doctor before they start
trying. Gina’s brother and his wife have a five-month-old son who has just been
diagnosed with cystic fibrosis. Gina knows the disease has a genetic component so she
wants to learn more about her risk of passing this gene on to her child before she and
Aaron move further along in the process. Her doctor assures her that simple genetic
testing can identify whether or not she and Aaron are carriers for the disease, but Gina
and Aaron have many unanswered questions. They never thought that deciding to have
a baby could be so complicated. The doctor has suggested that Gina and Aaron sit
down and discuss their case with a genetic counselor.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 6
BIOMED
GENETIC COUNSELING, INC.
CASE #8675309T – The Thompson Family
Markus and Wanda Thompson have a three-year old daughter, Patrice, who is battling
leukemia. Chemotherapy has been keeping her cancer under control; however, the
doctors say that a bone marrow transplant is her best chance for long term survival.
Neither Markus nor Wanda is a bone marrow match. Their parents have been tested,
but as Markus and Wanda are both only children, there is no other family member to
turn to. The National Bone Marrow Registry has yet to find a suitable match. Desperate
to save Patrice, Markus and Wanda are considering having another child in the hopes
that he or she would be a bone marrow match. They have been referred to both a
genetic counselor and a reproductive specialist to discuss their options.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 7
BIOMED
GENETIC COUNSELING, INC.
CASE #132566D – Jane Donson
Jane Donson, age 19, has asked to speak with a genetic counselor because she is
concerned about developing schizophrenia. Both her mother and her maternal
grandmother were affected by schizophrenia and had to be institutionalized most of
their adult lives. She has come in to find out if she can be tested to see if she too will
develop the disease. She has watched her relatives suffer and she wants to take
whatever steps she can to plan her future and be prepared to battle this debilitating
disease.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 8
BIOMED
GENETIC COUNSELING, INC.
CASE #7676R – John Roblio
After spending a week in the hospital, John Roblio learned that his kidneys were
enlarged and contained many tiny cysts. Further tests reveal that John has polycystic
kidney disease (PKD). The doctors are managing his pain and are keeping an eye on
his blood pressure, but for now John is in good health. His doctors mentioned that he
may require a transplant someday, but John can not think about that now. His wife,
Marta, just found out she is pregnant. They have so much to do before the baby comes.
Unfortunately, John did not realize that his condition is genetic. Both of his parents died
when John was only 12.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 9
BIOMED
GENETIC COUNSELING, INC.
CASE #887766S – The J. Smith Family
This week, James and Judy have some unexpected news to share with their family.
They just found out that they are expecting their third child. Now that the shock has
worn off, they are excited to welcome a new member into their family. However, since
Judy is in her forties, her pregnancy is considered high risk. The doctor has suggested
genetic testing and screening to monitor the pregnancy and to identify any potential
complications with the fetus. James and Judy never had to make these kinds of
decisions with their first two kids. The idea of learning too much about their child before
he or she is born is a bit scary, but they ask the doctor for more information. Both
James and Judy want a happy and healthy baby, but they are scared of knowing too
much.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 10
BIOMED
GENETIC COUNSELING, INC.
CASE #887766C – The Cruz Family
Luisa and Fernando Cruz come in to the office completely distraught. Routine fetal
monitoring has shown some decreased movement of their growing baby. Due to Luisa’s
advanced maternal age (she is 44 years old), the doctor first mentioned Down
Syndrome and suggested Luisa have a test called amniocentesis performed. The
amniocentesis showed abnormalities and further testing revealed that their son has
Prader-Willi Syndrome. Luisa and Fernando have never heard of this disorder and want
to learn all they can about how to have a healthy birth and how to take care of their
child. Mr. and Mrs. Cruz had planned on having a very large family, but now they are
not so sure.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 11
BIOMED
GENETIC COUNSELING, INC.
CASE #4541994B – The Brown Family
Initial tests suggest that Sean and Melissa Brown are carrying a baby with Trisomy 18.
Doctors are running additional tests to confirm the diagnosis, but Sean and Melissa
want to know as much as they can about what may lie ahead. As they are of a relatively
young age and have two healthy babies at home, Sean did not want to have any
screening tests before the baby was born. He still feels conflicted about hearing this
news before the baby has come into the world.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 12
BIOMED
GENETIC COUNSELING, INC.
CASE #322876H – Florence Hines
Florence Hines is a 40-year-old elementary school teacher and mother of five. For the
past few months she has been extremely nauseated and has had horrible headaches.
She thought at first that she might be pregnant again, but many home tests have ruled
out this possibility. Most recently, she has become extremely sluggish and her legs and
arms “feel like they have weights attached to them.” Her doctor also noticed a slight
droop in her left eye. After many rounds of tests, Florence learns that she has KearnsSayre syndrome. The doctor mentions her genes when he is talking about the disorder,
but both of Florence’s parents are in their 70s and doing fine. Florence does, however,
want to know how her condition will affect her children.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 13
BIOMED
GENETIC COUNSELING, INC.
CASE #574321F – The Ford Family
Marie Ford, 31, has just found out that she has Stage II Breast Cancer. She is taking
action quickly as her mother, Beth, died from breast cancer at age 39. Their family just
can’t seem to escape cancer. Her uncle Joe, her mom’s brother, fought leukemia as a
child and eventually died from a brain tumor. His children, Joe Jr. and Anna, 10 and 16
respectively, are still adjusting to life without their father.
Further genetic testing reveals that Marie has a rare genetic disorder called Li-Fraumeni
syndrome. Marie and her husband Ron hope to have children one day, but they fear
passing this disorder on to their child. Marie also wants to investigate whether or not her
niece and nephew should also be tested for the disease. They are young and should
get to be kids, but they should also be aware of steps that may extend their lives.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 14
BIOMED
GENETIC COUNSELING, INC.
CASE #100011H – Stacy Harris
Stacy Harris has been dealing with hemophilia all of her life. Every cut and scrape had
to be taken seriously as she risked bleeding to death. She is managing her disease well
and undergoes replacement therapy as needed. Her dad is also a hemophiliac, so she
is well aware of the day to day trials of her disease.
Since Mrs. Harris is affected, she is told that all of her sons will inherit the disorder. She
would hate to see another person she loves have to manage hemophilia. She figures
that if there is a way to guarantee that they have a girl, there really is no issue. Stacy
and her husband schedule a meeting with a genetic counselor and a reproductive
specialist to discuss their options.
© 2010 Project Lead The Way, Inc.
Medical Interventions Activity 2.1.1 Teacher Resource Sheet – Page 15