Download GENETIC DILEMMA #1

Tay Sach’s disease
Pretend you are confronted with the following situation:
You and your spouse go to a genetic counselor because you decided to start a family but want to
know if there are any possible genetic diseases you should be aware of passing on to your child.
Scenario A: The genetic counselor learns that only one prospective parent is a carrier.
1. What would the counselor tell you you’re probabilities of having a baby with Tay-Sachs
disease be? Support with Evidence.
2. Why would parents have a difficult time deciding on having a baby if they knew it was going to
have Tay-Sachs disease? Support with Evidence
Scenario B: Suppose that you and your spouse knew that you were both carriers of Tay-Sachs
disease.
3. What is the probability that you would have a child with Tay-Sachs disease?
4. Would you decide to have children? Why or why not? (Remember that there is no right
answer.)
Huntington’s Disease
Pretend you are confronted with the following situation:
Your father is unexpectedly diagnosed with Huntington's disease. You do some research and
discover that your grandfather (your dad's dad) is healthy and has no family history of Huntington's
disease. You also discover that your grandmother (your dad's mom) died at the age of 45 from
Huntington's disease. There is no family history of Huntington's disease in your mother's family.
1. What is your dad's genotype? Support your answer.
2. What are the chances of you having Huntington's disease? Support your answer.
3. There is a biochemical test you can take to determine if you have the defective gene. Would you
choose to take the test? Explain why or why not. (Answer on back)
4. Whether you choose to take the test or not, would you elect to have children? Explain why or
why not.
Myotonic Dystrophy
Pretend you are confronted with the following situation:
You have been having symptoms and decided to see a doctor to find out what is going on. After
the proper testing you find out that you have myotonic dystrophy. You do some family research
and find out that your dad had myotinic dystrophy but your mom did not. Your spouse does not
have myotonic dystrophy. You and your spouse decide to go see a genetic counselor because
you want to start a family.
1. What is your genotype?
2. What would the genetic counselor tell you about your chances having a baby with myotonic
dystrophy? Support your answer.
3. What are the complications that you could go through during pregnancy having myotonic
dystrophy? Support your answer with evidence (research)
4. Would you elect to have children? Explain why or why not.
Sickle Cell Anemia
Pretend you are confronted with the following situation:
This is your first year being a genetic counselor, and you get your very first patients. A man and his
wife come in to see you with a concern. The man has a history of sickle cell disease in his family,
but neither of his parents have shown symptoms. The wife is an immigrant from rural tropical Africa
and has no idea if her family has any history of sickle cell disease. However her mother died during
childbirth with her, which is a known complication for individuals with sickle cell anemia. The couple
has 2 children, ages 4, 8 and would like to have another. Their kids don’t know about the history of
the disease. The couple has come to you for advice on whether or not to have another child, and
what to tell their children about the family medical history.
1. As their genetic counselor what kind of testing can you do to help determine the presence of
a mutation for a specific genetic disease?
2. After doing the genetic test you find out that both the man and wife are carriers for the
disease. What is the probability that the couple would have a child with Sickle Cell Anemia?
Support Your Answer.
3. Should the patient and his wife tell the kids about the medical history? Why or why not?
4. Would you recommend that the couple to have another child? Why or why not?
Osteogenesis Imperfecta
Pretend you are confronted with the following situation:
Your brother-in-law has a somewhat mild case of type IV Ostogenesis imperfecta (OI). His mother
also has type IV OI, but his father’s family and your family have no history of OI.
1. What is your brother-in-law’s genotype?
2. What are the chances that your niece or nephew would have Osteogenesis imperfecta?
Support your answer.
3. There is a test that can be done during pregnancy to determine if the baby has the condition.
Should your sister take the test? Explain why or why not.
4. Would you advise your sister and brother-in-law to try to have their own children or to adopt?
Explain your answer.
Down Syndrome
Pretend you are confronted with the following situation:
Your mother is 38 years old and she delivers a baby boy (your new brother), who has Down
Syndrome. A karyotype is assembled for your brother and shows that he has trisomy 21.
1. What does your brother’s karyotype look like?
2. What are the chances that if you start a family at age 38, that you will have a child with Down
Syndrome?
3. There are a few types of tests that you can get to determine if your fetus has Down
Syndrome. Would you have the test done? Explain why or why not.
4. Whether you choose to take the test or not, would you elect to have children? Explain why or
why not.
Klinefelter Syndrome
Pretend you are confronted with the following situation:
Your 12 year-old cousin has recently diagnosed with Klinefelter syndrome. Your aunt and uncle
each have the normal number of sex chromosomes.
1. What does the karyotype for your cousin’s chromosomes look like?
2. If your aunt and uncle wanted to have another child, should they be concerned that their next
child might also have Klinefelter syndrome? Why or why not?
3. Should your cousin undergo testosterone replacement therapy? Why or why not?
4. Assuming your cousin is fertile, do you think that he should elect to have children? Why or
why not?
Krabbe Disease
Pretend you are confronted with the following situation:
This is your first year being a genetic counselor, and you get your very first patients. Mr. and Mrs.
Jones lost a child that had been diagnosed with Krabbe disease. Both of the parents do not have
the disease.
1. What are the genotypes for Mr. and Mrs. Jones?
2. If the Jones’ wanted to have another child, what are the chances that the child would have
Krabbe disease? Support your answer.
3. There is a biochemical test people can take to determine if their child has the defective gene.
Do you think they should choose to take the test? Explain why or why not.
4. Do you think the Jones’ should elect to have more children? Explain why or why not.
Duchenne Muscular Dystrophy
Pretend you are confronted with the following situation:
Your brother John has just been diagnosed with Duchenne muscular dystrophy. Neither of your
parents has the disorder.
1. What is your mother’s genotype?
2. What are the chances that you also have Duchenne muscular dystrophy? Support your
answer.
3. There is a biochemical test you can take to determine if you have the defective gene. Would
you choose to take the test? Explain why or why not.
4. Would you elect to have children of your own? Explain why or why not.
Cystic Fibrosis
Pretend you are confronted with the following situation:
You and your spouse are planning to have children. Unfortunately, you both have relatives who have the genetic disorder
Cystic Fibrosis. You wonder whether or not your child will have the disorder, and would like to avoid such a health
challenge. You go to a genetic counselor, and find that both you and your spouse have the gene. It is important for you to
find out as much as possible about the disorder, so that you can make sure that your child does not have the disorder.
1. What kind of genetic disorder is CF? [sex linked or autosomal, dominant or recessive]
2. What is the prognosis for people with this disorder?
3. Would you elect to have children? Explain why or why not.
4. Is there anything you can do to make sure that your child does not have the disorder?
Hereditary Breast Cancer
Pretend you are confronted with the following situation:
You are a 25-year-old unmarried woman. Someday you plan to have children. You're worried because you have a family
history of cancer: Your mother and aunt died of breast cancer, and one of your grandmothers of ovarian cancer. You've
learned that women with a mutation in the BRCA1gene have a 60 to 80 percent greater chance than the average woman
of getting breast cancer, and a 40 percent increased risk of developing ovarian cancer. Your doctor has advised you to
get specialized genetic testing to see if you have such a BRCA1 mutation.
1. Given the above information, would you get tested? Explain why or why not.
2. After doing the genetic test you find out that you have the mutation in the BRCA1 gene. What options are
available to reduce your chance of developing breast and/or ovarian cancer?
3. Assuming you have the mutation in the BRCA 1 gene, would you elect to have children? Explain why or why
not?
4. What do you think of Angelina Jolie’s decision to go public with her recent decision to be tested and her choice to
have a hysterectomy and mastectomy?
Hemophilia
Pretend you are confronted with the following situation:
Your best friend Sarah just found out she’s pregnant. She is excited to start a family, but she is very concerned about a
genetic disease found in her husband’s family. Her mother-in-law is a hemophilic person (which is very rare in women).
Her father-in-law is normal and does not have hemophilia. Two of their three sons are hemophilic. Sarah married the son
with no hemophilia. Sarah was tested and her results show that she is not a carrier of hemophilia.
1. What kind of disorder is Hemophilia [sex linked or autosomal, dominant or recessive]?
2. What are the chances that Sarah’s baby will have hemophilia?
3. What are the chances that Sarah’s baby will be a carrier for hemophilia?
4. If you were in Sarah’s place, would you elect to have children? Why or why not?
PKU
Pretend you are confronted with the following situation:
Your parents just had a new baby 2 weeks ago. One afternoon after school the hospital where your sibling was born calls
to inform your family that your new sibling has PKU (phenylketonuria).
1. What is your sibling’s genotype? Support your answer.
2. How will your sibling’s disorder impact your family?
3. There is a biochemical test you can take to determine if you have the defective gene. Would you choose to take
the test? Explain why or why not.
4. Assume you are a carrier of PKU. Would you ask your future partner to also get tested? Why or why not?
ALZHEIMERS
Pretend you are confronted with the following situation:
You remember all the fun things you did with your grandmother when your were growing up. Then she is put in a nursing
home. You visit her but she doesn’t remember who you are. She has late on-set Alzheimers. You worry that this
disease is hereditary. You are 27 years old. Can you pass this disease onto your children?
1. Which chromosomes/genes are responsible for Alzheimers?
2. What is the difference between “Risk Genes” and “Deterministic Genes”
3. If you determine that your grandmother had the Deterministic Genes for Alzheimer’s: What would her genotype
be? (Use A and a)
4. Your mother is tested and it was determined, she has the gene. What is the probability of you inheriting
Alzheimers?
Diabetes 1
Pretend you are confronted with the following situation:
Your father has had Type 1 Diabetes since he was eight years old. Your mother was just diagnosed with Type 2
Diabetes. You see them monitoring their blood sugar levels, watching their diet and taking medicine, including shots
of insulin. You are in your 17 and wonder if you will develop diabetes, too?
1. What are the chances of developing type 1 diabetes at your age?
2. What role does family history play in the development of Diabetes?
3. How do Type 1 and type 2 Diabetes differ?
4. Can you develop Type 2 Diabetes, like your mother did?
USHER Syndrome
Pretend you are confronted with the following situation:
Your family includes you (15 years), your 5 year old sister and a 2 year old brother. You and your sister are playing with
your brother one day, and you notice he isn’t hearing you. He is taken to the doctor’s office and diagnosed with Usher
Syndrome.
1. How is this disorder inherited? (autosomal dominant/recessive?)
2. What chromosomes/genes are associated with Usher Syndrome.
3. What are the chances that you and your sister are carriers for this disease?
4. You learn there are several different forms of Usher Syndrome. What are the chances you could develop the
disease later in life?
Waardenburg Syndrome
Pretend you are confronted with the following situation:
You are a 26 year old married women and have just given birth to a baby boy. Everyone who comes and visits you in
the hospital mentions your babies pale blue eyes. The doctor seems concerned about the eye color and wants to run
some tests on the baby for Waardenburg Syndrome. The results come back positive.
1. What chromosomes/genes are involved in this disease.
2. How can your baby develop this disease if both you and your husband have never heard of it and are not
affected?
3. What are the chances of your future children developing this syndrome?
4. Is there anything you can do during pregnancy to reduce the risk of your future children developing
Waardenburg’s?