Genetic Counseling Boards Review
Questions (Latest )100%
Correct Questions & Answers
A genetic counselor is working in the Cystic Fibrosis Clinic. The first patient of the day,
with homozygous F508del mutations, reports improved symptoms since starting
Lumacaftor/Ivacaftor. The genetic counselor is concerned because the second patient
of the day, who also has homozygous F508del mutations, is not doing well and shares
that he decided not to fill the prescription of Lumacaftor/Ivacaftor because it would be
too expensive. The counselor shares that she is going to work with him and the
Financial Assistant Team at the hospital to work on coverage for the medication. Under
what Code of Ethics principle is the genetic counselor acting?
a. Autonomy
b. Beneficence
c. Nonmaleficence
d. Justice - Correct answer D, Justice
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?
a. Respect the patient's desire and do not enroll him in the trial without his assent
b. Respect mom's decision to provide consent for the patient and enroll him in the trial
c. Cons - Correct answer a. Other clinical intervention already available and the pt is
enrolled in, also he is 15 and has a say (assent)
A 2 day old female with multiple congenital anomalies is admitted to the hospital.
Genetics is consulted due to concern for an underlying genetic etiology. No obvious
genetic condition is noted and Genetics recommends referring the patient to the
research genome study. Before the clinical research coordinator approaches the
family, the genetic counselor requests a team meeting with Genetics, Research, and
Neonatology to discuss and come to a consensus as a team on what will be best for
,the patient. Which principle of the NSGC Code of Ethics BEST aligns with the genetic
counselor's action?
a. Genetic counselors themselves
b. Genetic counselors and their clients
c. Genetic counselors and their colleagues
d. Genetic counselors and society - Correct answer b. GCs and their colleagues
Which of the following study designs does not require participants to sign an informed
consent document?
a. A prospective trial of MYH mutation positive individuals to evaluate the efficacy of
increasing frequency of echocardiograms
b. An online survey using a Likert scale emailed to patients asking about their
experience with family variant group counseling sessions.
c. A study to determine the impact of educational outcomes for adult patients with
Charcot Marie Tooth who are referred to Genetics after confirmatory molecular testing
is completed by Neurology.
d. A study assessing the clinical utility of a neonatal panel compared to whole exome
sequencing for infants admitted to the hospital after birth with concern for a genetic
, condition - Correct answer b. An online survey using a Likert scale emailed to patients
asking about their experience with family variant group counseling sessions.
You are meeting a family in the pediatrics developmental clinic for evaluation of their 3
year old daughter. The daughter's medical history was noted for a normal birth and
first year of life, however, her parents noted she had delayed walking and at 3 years
old, she is nonverbal. You notice that when she walks, she looks unbalanced and her
legs have a tremor to them. Despite these challenges, her parents report she is
incredibly happy and laughs all the time. Based on these findings, which condition and
etiology is highest on your differential?
a. Angelman syndrome; paternal deletion of 15q12
b. Angelman syndrome; maternal deletion of 15q12
c. Smith Magenis syndrome, 17p deletion
d. Smith Magenis syndrome, 17p duplication - Correct answer b. Angelman syndrome;
maternal deletion of 15q12
You are meeting with a couple for preconception counseling. They have a 6 year old
son with Prader Willi syndrome. They have waited to have more children because they
Questions (Latest )100%
Correct Questions & Answers
A genetic counselor is working in the Cystic Fibrosis Clinic. The first patient of the day,
with homozygous F508del mutations, reports improved symptoms since starting
Lumacaftor/Ivacaftor. The genetic counselor is concerned because the second patient
of the day, who also has homozygous F508del mutations, is not doing well and shares
that he decided not to fill the prescription of Lumacaftor/Ivacaftor because it would be
too expensive. The counselor shares that she is going to work with him and the
Financial Assistant Team at the hospital to work on coverage for the medication. Under
what Code of Ethics principle is the genetic counselor acting?
a. Autonomy
b. Beneficence
c. Nonmaleficence
d. Justice - Correct answer D, Justice
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?
a. Respect the patient's desire and do not enroll him in the trial without his assent
b. Respect mom's decision to provide consent for the patient and enroll him in the trial
c. Cons - Correct answer a. Other clinical intervention already available and the pt is
enrolled in, also he is 15 and has a say (assent)
A 2 day old female with multiple congenital anomalies is admitted to the hospital.
Genetics is consulted due to concern for an underlying genetic etiology. No obvious
genetic condition is noted and Genetics recommends referring the patient to the
research genome study. Before the clinical research coordinator approaches the
family, the genetic counselor requests a team meeting with Genetics, Research, and
Neonatology to discuss and come to a consensus as a team on what will be best for
,the patient. Which principle of the NSGC Code of Ethics BEST aligns with the genetic
counselor's action?
a. Genetic counselors themselves
b. Genetic counselors and their clients
c. Genetic counselors and their colleagues
d. Genetic counselors and society - Correct answer b. GCs and their colleagues
Which of the following study designs does not require participants to sign an informed
consent document?
a. A prospective trial of MYH mutation positive individuals to evaluate the efficacy of
increasing frequency of echocardiograms
b. An online survey using a Likert scale emailed to patients asking about their
experience with family variant group counseling sessions.
c. A study to determine the impact of educational outcomes for adult patients with
Charcot Marie Tooth who are referred to Genetics after confirmatory molecular testing
is completed by Neurology.
d. A study assessing the clinical utility of a neonatal panel compared to whole exome
sequencing for infants admitted to the hospital after birth with concern for a genetic
, condition - Correct answer b. An online survey using a Likert scale emailed to patients
asking about their experience with family variant group counseling sessions.
You are meeting a family in the pediatrics developmental clinic for evaluation of their 3
year old daughter. The daughter's medical history was noted for a normal birth and
first year of life, however, her parents noted she had delayed walking and at 3 years
old, she is nonverbal. You notice that when she walks, she looks unbalanced and her
legs have a tremor to them. Despite these challenges, her parents report she is
incredibly happy and laughs all the time. Based on these findings, which condition and
etiology is highest on your differential?
a. Angelman syndrome; paternal deletion of 15q12
b. Angelman syndrome; maternal deletion of 15q12
c. Smith Magenis syndrome, 17p deletion
d. Smith Magenis syndrome, 17p duplication - Correct answer b. Angelman syndrome;
maternal deletion of 15q12
You are meeting with a couple for preconception counseling. They have a 6 year old
son with Prader Willi syndrome. They have waited to have more children because they
