Name: Score:
195 Multiple choice questions
Definition 1 of 195
Which of the following genetic conditions is not the result of a collagen defect?
Osteogenesis imperfecta, Type II
Congenital contractural arachnodactyly
Ehlers Danlos, classic type
Multiple epiphyseal dysplasia
Definition 2 of 195
A genetic counselor is the research coordinator of a clinical trial for an oral enzyme replacement
product as an alternative to the current standard of care, infusion, in Fabry Disease. A 15 year old
boy is diagnosed with Fabry Disease and referred to the genetic counselor to discuss being a
part of the clinical trial. The patient and his mother are very engaged during the session and both
ask appropriate questions. The patient's mother is very enthusiastic and shares that she thinks this
would be less burdensome then coming to the hospital regularly for infusions. The patient
expresses that this feels like more work for him to remember on his own and does not want to do
it. What is the BEST action for the genetic counselor to take next?
Respect the patient's desire and do not enroll him in the trial without his assent
Respect mom's decision to provide consent for the patient and enroll him in the trial
Consult with the Ethics Review Board to get their input on if you should respect the patient's
or mom's request
Go through the informed consent again to make sure the patient understands the
difference between oral and infused enzyme replacement
,Definition 3 of 195
For which indication would telehealth service delivery model be inappropriate?
Breast cancer
Marfan Syndrome
Carrier screening
Cascade testing
Definition 4 of 195
A couple comes for genetic counseling because their daughter has congenital adrenal
hyperplasia (CAH). Which of the following should be recommended for future pregnancies?
BH4 supplementation
biotin therapy
cholesterol supplementation
no treatment
Definition 5 of 195
You are meeting with a 40 year old male patient who was recently diagnosed with HFE related
hemochromatosis after experiencing extreme pain and fatigue for about 10 years. He has a
daughter who is 16 years old. After learning the condition is inherited, he wants to know what the
chances are his daughter will have the condition. What is the next best response to give to this
father?
"This is difficult to determine without some more information. A key piece of information is
if her mother is a carrier for the condition. Perhaps it would be helpful to talk about how this
condition is passed in families."
"Even if she has the genes for hemochromatosis, it is unlikely she will get the condition"
"This condition is considered adult onset, so we wouldn't be able to test your daughter now
for the condition."
"This condition is usually less severe for females who are menstruating"
,Definition 6 of 195
16yo male comes to genetics clinic with his mother due to presentation of pectus carinatum. His
surgical history is significant for pneumothorax repair. He is following Ophthalmology for high
myopia. Physical exam is notable for pes planus, reduced elbow extension, and scoliosis. Recent
echo report notes dilated aortic root. What is the best genetic test to counsel the family on?
Chromosome analysis
FBN1 deletion/duplication analysis
COL3A1 sequencing
FBN1 sequencing
Definition 7 of 195
A pregnant woman has an ultrasound that identifies a lumbar meningomyelocele in the fetus.
Which of the following exposures is MOST closely associated with this birth defect?
tetracycline
lithium
phenytoin
valproic acid
Definition 8 of 195
Genetic drift is an exception of which of the following assumptions of Hardy Weinberg:
No mutation
No migration
Population is infinitely large
Random mating
, Definition 9 of 195
You have recently accepted a position as a genetic counselor for a research project that
investigates the underlying etiology of rare genetic disorders. Enrollment in the study requires
patients to come to your site 2 times a year for sample collection and relevant tests. You are
located in a major metropolitan area. You are currently working on securing funding for travel
assistance for participants. The ethical principle you are most concerned about here is:
Beneficence
Autonomy
Veracity
Justice
Definition 10 of 195
57. A 41-year-old pregnant Vietnamese woman at 15 weeks gestation comes for genetic
counseling prior to amniocentesis. She speaks very little English and has brought her husband
with her to act as an interpreter. The hospital's Vietnamese interpreter is not currently available.
Which of the following is the BEST action by the genetic counselor?
Call the patient's obstetrician for advice on how to proceed.
Conduct the session with the husband translating.
Proceed with the amniocentesis with counseling afterwards.
D.Reschedule the appointment when a professional interpreter is available.
195 Multiple choice questions
Definition 1 of 195
Which of the following genetic conditions is not the result of a collagen defect?
Osteogenesis imperfecta, Type II
Congenital contractural arachnodactyly
Ehlers Danlos, classic type
Multiple epiphyseal dysplasia
Definition 2 of 195
A genetic counselor is the research coordinator of a clinical trial for an oral enzyme replacement
product as an alternative to the current standard of care, infusion, in Fabry Disease. A 15 year old
boy is diagnosed with Fabry Disease and referred to the genetic counselor to discuss being a
part of the clinical trial. The patient and his mother are very engaged during the session and both
ask appropriate questions. The patient's mother is very enthusiastic and shares that she thinks this
would be less burdensome then coming to the hospital regularly for infusions. The patient
expresses that this feels like more work for him to remember on his own and does not want to do
it. What is the BEST action for the genetic counselor to take next?
Respect the patient's desire and do not enroll him in the trial without his assent
Respect mom's decision to provide consent for the patient and enroll him in the trial
Consult with the Ethics Review Board to get their input on if you should respect the patient's
or mom's request
Go through the informed consent again to make sure the patient understands the
difference between oral and infused enzyme replacement
,Definition 3 of 195
For which indication would telehealth service delivery model be inappropriate?
Breast cancer
Marfan Syndrome
Carrier screening
Cascade testing
Definition 4 of 195
A couple comes for genetic counseling because their daughter has congenital adrenal
hyperplasia (CAH). Which of the following should be recommended for future pregnancies?
BH4 supplementation
biotin therapy
cholesterol supplementation
no treatment
Definition 5 of 195
You are meeting with a 40 year old male patient who was recently diagnosed with HFE related
hemochromatosis after experiencing extreme pain and fatigue for about 10 years. He has a
daughter who is 16 years old. After learning the condition is inherited, he wants to know what the
chances are his daughter will have the condition. What is the next best response to give to this
father?
"This is difficult to determine without some more information. A key piece of information is
if her mother is a carrier for the condition. Perhaps it would be helpful to talk about how this
condition is passed in families."
"Even if she has the genes for hemochromatosis, it is unlikely she will get the condition"
"This condition is considered adult onset, so we wouldn't be able to test your daughter now
for the condition."
"This condition is usually less severe for females who are menstruating"
,Definition 6 of 195
16yo male comes to genetics clinic with his mother due to presentation of pectus carinatum. His
surgical history is significant for pneumothorax repair. He is following Ophthalmology for high
myopia. Physical exam is notable for pes planus, reduced elbow extension, and scoliosis. Recent
echo report notes dilated aortic root. What is the best genetic test to counsel the family on?
Chromosome analysis
FBN1 deletion/duplication analysis
COL3A1 sequencing
FBN1 sequencing
Definition 7 of 195
A pregnant woman has an ultrasound that identifies a lumbar meningomyelocele in the fetus.
Which of the following exposures is MOST closely associated with this birth defect?
tetracycline
lithium
phenytoin
valproic acid
Definition 8 of 195
Genetic drift is an exception of which of the following assumptions of Hardy Weinberg:
No mutation
No migration
Population is infinitely large
Random mating
, Definition 9 of 195
You have recently accepted a position as a genetic counselor for a research project that
investigates the underlying etiology of rare genetic disorders. Enrollment in the study requires
patients to come to your site 2 times a year for sample collection and relevant tests. You are
located in a major metropolitan area. You are currently working on securing funding for travel
assistance for participants. The ethical principle you are most concerned about here is:
Beneficence
Autonomy
Veracity
Justice
Definition 10 of 195
57. A 41-year-old pregnant Vietnamese woman at 15 weeks gestation comes for genetic
counseling prior to amniocentesis. She speaks very little English and has brought her husband
with her to act as an interpreter. The hospital's Vietnamese interpreter is not currently available.
Which of the following is the BEST action by the genetic counselor?
Call the patient's obstetrician for advice on how to proceed.
Conduct the session with the husband translating.
Proceed with the amniocentesis with counseling afterwards.
D.Reschedule the appointment when a professional interpreter is available.
