ANSWERS(GRADED A+)
In a genetic counseling session, why is it important to establish a "contract" with the
individual or family?
A) To outline the financial costs associated with the genetic testing process.
B) To define the roles and responsibilities of both the genetic counselor and the client
during the session.
C) To ensure the individual or family follows a strict medical regimen after the session.
D) To discuss potential side effects of genetic testing and treatment options in detail. -
ANSWER B) To define the roles and responsibilities of both the genetic counselor and
the client during the session.
A 30 year old man is being seen in cardiac genetics clinic because his 6 year old
daughter recently survived a near drowning. After this incident she had genetic testing
that revealed that she has Long QT syndrome. The father states that he assumes that
he passed this condition on to his daughter because he had a brother that drowned
when he was 8 years old. He is very concerned about how this diagnosis will change his
lifestyle. What is the BEST response by the genetic counselor to respond to his
concerns?
A) Everyone passes something along to their children.
B) It will take time to adjust to this new diagnosis.
C) Long QT is a manageable condition.
D) You are lucky that your daughter did not drown and that she is receiving good care. -
ANSWER B) It will take time to adjust to this new diagnosis.
A father brings his 10-year-old son to a genetics appointment due to concerns about the
boy's delayed speech development and fine motor skills. The father appears reluctant to
be at the appointment and dismisses the idea that his son has any developmental
issues. What is the best approach to emphasize the importance of the appointment and
guide decision making?
A) Compare the boy's development and skills to those of other children to demonstrate
the delays.
B) Focus solely on the medical perspective to convince the father of his son's condition.
C) Accept the father's resistance and move forward with the session as originally
planned.
D) Utilize open-ended questions to understand the father's concerns and reasons for
denial, facilitating a productive discussion. - ANSWER D) Utilize open-ended questions
to understand the father's concerns and reasons for denial, facilitating a productive
discussion.
,A 40 year old woman was recently diagnosed with breast cancer. She is struggling to
decide whether she should move forward with genetic testing in the form of a high
risk/moderate risk breast cancer panel. While taking the family history, it becomes clear
that she is from a large family that is extremely close-knit. She frequently turns to them
for support. She does not have a partner or children. What is the best approach to
facilitate decision making?
A) Discuss the pros and cons of testing.
B) Point out the potential risk to her family members.
C) Offer to schedule a follow up appointment for her and any of her selected family
members.
D) Discuss how a positive test result impacts medical management. - ANSWER C)
Offer to schedule a follow up appointment for her and any of her selected family
members.
A mother has a child with microcephaly and developmental delay. The child has been
referred to genetics for evaluation and genetic testing. The mother is unhappy to be at
the appointment and denies that there are concerns for the child. What is the best
approach to show the utility of the appointment and facilitate decision making?
A) To prove that the child has microcephaly and is delayed, compare the child's
development and head size to the metrics of other children.
B) Ask open-ended questions geared towards learning about the reason for her
unhappiness and denial.
C) There is no need to try to engage the mother further. She has made up her mind.
Move forward with the session as planned.
D) Assume the reason is cultural and ask her about her beliefs and traditions. -
ANSWER B) Ask open-ended questions geared towards learning about the reason for
her unhappiness and denial.
Which of the following is a potential strength of telephone-based genetic counseling in
comparison to video-based counseling?
A) Enhanced ability to establish trust and rapport between patients and counselors.
B) More efficient use of counseling session time due to lack of visual distractions.
C) Greater potential for accommodating patients with hearing impairments.
D) Improved accuracy in conveying complex genetic information. - ANSWER B) More
efficient use of counseling session time due to lack of visual distractions.
What is a strength of in-person genetic counseling as compared to other service
delivery models?
A) It offers greater convenience and flexibility for patients.
B) It allows for direct face-to-face interaction between the counselor and patient.
C) It eliminates the need for patients to have access to technology.
, D) It is more cost-effective and widely accessible. - ANSWER B) It allows for direct face-
to-face interaction between the counselor and patient.
What is a strength of video-based genetic counseling in comparison to in-person
counseling?
A) It eliminates the need for patients to provide a detailed medical history.
B) It ensures a higher level of patient confidentiality and data security.
C) It provides a similar level of personal connection as face-to-face interactions.
D) It is only suitable for patients with minor mobility issues. - ANSWER C) It provides a
similar level of personal connection as face-to-face interactions.
Which limitation is shared by both in-person and telehealth-based genetic counseling?
A) Limited access for patients with disabilities.
B) Inability to accommodate patients' scheduling preferences.
C) Higher cost compared to other virtual counseling methods.
D) Reduced patient satisfaction due to the absence of technology. - ANSWER A)
Limited access for patients with disabilities.
Which limitation is associated with telephone-based genetic counseling?
A) It is less suitable for patients with medical conditions affecting travel.
B) It does not allow for real-time communication between the counselor and patient.
C) It requires advanced technical skills from patients and counselors.
D) It is not covered by insurance companies. - ANSWER B) It does not allow for real-
time communication between the counselor and patient.
Which of the following imprinting disorders is associated with the SNRPN gene?
A) Angelman; Chromosome 15
B) Prader-Willi; Chromosome 15
C) Beckwith-Wiedemann; Chromosome 11
D) Russell-Silver; Chromosome 11 - ANSWER B) Prader-Willi; Chromosome 15
A female patient has expanded carrier screening and is identified to have 49 repeats in
the FMR1 gene. Which of the following is most likely?
A) They have a 20% chance to develop Fragile X Tremor Ataxia Syndrome (FXTAS)
B) They will have a male child with Fragile X syndrome
C) They will not have any symptoms related to this repeat size
D) They are at an increased risk to develop premature ovarian insufficiency (POI) -
ANSWER C) They will not have any symptoms related to this repeat size
A patient had genetic testing done that revealed one methylated allele associated with
Beckwith Wiedemann syndrome. What is this an example of?