ABGC Boards Final Review Exam
Verified 2025
"Beta-like" chains
chr:11 - ANSWER-(beta)
(gamma)
(epsilon)
(delta)
*Prenatal*
Cystic Fibrosis Carrier Screening - ANSWER-DNA mutation analysis
ACOG recommends 23 gene panel
@ mild vs. classic mutations
@ VUS
@ may identify "affected"
Carrier Frequencies
@ AJ = 1/24 (DR = 94%)
@ N.E. Caucasians = 1/25 (DR = 88%)
@ Latina = 1/46 (DR = 72%)
@ African American = 1/65 (DR = 65%)
@ Asian = 1/94 (DR = 49%)
As carrier frequency decreases --> DR decreases
As carrier frequency decreases --> carrier risk not reduced as much by a negative test
1.) MSI/MMR histochemistry (MSH2/MSH6 complexes, where MSH6 is absent if MSH2
is), (MLH1/PMS2 complexes where PMS2 is absent if MLH1 is absent)
-MSH2 causes loss of MSH6
-MLH1 causes loss of PMS2
2.) BRAF (sporadic)
3.) If BRAF neg, methylation neg, proceed to MMR genetic testing - ANSWER-What is
the testing algorithm for lynch syndrome?
1975 ASHG Genetic Counseling Definition - ANSWER-communication process which
deals with the humans problems associated with the occurence or risk of occurence of a
genetic disorder in a family. This process involves an attempt by one or more
appropriately trained persons to help the individual or family to: (1) comprehend the
medical facts including the diagnosis, probable course of the disorder, and the available
management (2) appreciate the way heredity contributes to the disorder and the risk of
recurrence in specified relatives (3) understand the alternatives for dealing with the risk
of recurrence (4) choose a course of action which seems to them appropriate in their
view of their risk, their family goals, and their ethical and religious standards and act in
,accordance with that decision, and (5) to make the best possible adjustment to the
disorder in an affected family member and/or to the risk of recurrence of that disorder
2 common strategies for down regulating emotion (gross theory) - ANSWER-
reappraisal- changing the way a situation is construed so as to decrease its emotional
impact
Suppression- inhibiting the outward signs of inner feelings
2006 NSGC Genetic Counseling Definition - ANSWER-the process of helping people
understand and adapt to the medical, psychological, and familial implications of genetic
contributions to disease. It intergrates:
-interpretation of family and medical histories to assess the chance of disease or
recurrence
-education about inheritance, testing, managment, prevention, resources, and research
-counseling to promote informed choices and adaption to the risk or condition
2008 ACMG guidelines for SMA carrier screening - ANSWER-Should be offered to ALL
COUPLES
2009 ACOG guidelines for SMA carrier screening - ANSWER-Preconception/prenatal
screening for SMA not recommended in general population, but can be offered to
patients who request it.
2011 ACOG Opinion on CF carrier screening - ANSWER--Offer CF carrier screening to
ALL patients
-Complete analysis of CFTR sequencing is not appropriate for routine screening
-NBS panels that include CF do not replace maternal carrier screening
22q11 deletion syndromes - ANSWER-CATCH-22 = 3rd and 4th pharyngeal pouches
Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia (parathyroid aplasia)
(ex: DiGeorge syndrome)
22q11.2 deletion syndrome clinical presentation - ANSWER-ASD, developmental delay,
heart defects, cleft palate, psych disorders
22q11.2 deletion syndrome inheritance - ANSWER-autosomal dominant (most happen
by chance though)
3 mimics of denial - ANSWER-Disbelief. Deferral. Dismissal.
3 ways to better instruct adults - ANSWER-i. treat them as a partner in the learning
process
,ii. place value on previous learning and life experiences
iii. promote personal direction and control of learning
6 critiques of autonomy - ANSWER-1. The right to autonomous decision making is not
universally available due to economic and social realities
2. In practice, it is not a right but a privilege that can be revoked based on ses
3. It is a culturally limited concept
4. Even among traditional genetic counseling populations autonomy isn't universally
desired
5. It can justify poor counseling techniques (non directiveness)
6. If the family is our patient, why shouldn't the family have autonomy?
A 28-year-old man with Klinefelter syndrome is referred for genetic counseling. He calls
the genetic counselor several times with questions. The man's voice and personality are
similar to the counselor's brother. She finds it easy to talk to him and enjoys his
questions. She realizes her calls with him are taking longer than they should. -
ANSWER-Countertransference
A 40-year-old woman with Li-Fraumeni syndrome comes for genetic counseling after
testing confirms that she has a TP53 mutation. Her asymptomatic 18-year-old son is
also found to have the same mutation. The mother repeatedly suggests that gene
therapy should be available soon to repair the gene for her son and that perhaps his
test should be repeated in case there was a mix-up at the laboratory. - ANSWER-
Escape Avoidance
Coping style
A genetic counselor is seeing a woman who recently had a termination due to Trisomy
13. The counselor asks the woman how she been feeling since the procedure. The
patient tells the counselor she's fine--she says she went back to work a couple days
later and explains "It wasn't a big deal really." - ANSWER-Distancing: Acting as if
nothing happened
Coping style
A genetic counselor returns positive genetic testing results for TP53 to a male patient.
After hearing the news, the patient says "I don't understand. I thought you said the most
likely test result was that we wouldn't find anything. This doesn't make any sense." -
ANSWER-Disbelief
Reaction to bad news
Mimic of denial
, A genetic counselor's mother recently passed away from breast cancer. When seeing a
young patient with a BRCA1 mutation, the counselor realizes she is becoming
emotional while thinking of her mother but is able to refocus on the patient after
acknowledging her reaction internally. - ANSWER-Self-awareness
A man accompanies his wife to her genetic counseling appointment and they learn she
is positive for a BRCA1 mutation. He asks the counselor, "What percent of women with
this mutation develop breast cancer? What testing methodology was used to detect the
mutation? How does this mutation affect the gene?" - ANSWER-Intellectualization
Defense mechanism
A man calls a prenatal counselor on the phone to discuss his wife's positive NIPT result
for Turner syndrome. He tells the counselor, "I'm not very worried, but my wife is
extremely anxious about the result. I think this has really upset her." - ANSWER-
Projection
Defense mechanism
A man comes to genetic counseling to discuss his diagnosis of HCM. When you ask
him how he's handling the news, he says he's "Fine" but nothing else. Throughout the
session he offers very limited responses and maintains expressionless composure. -
ANSWER-Self-controlling
Coping style
A man receives a new diagnosis of Lynch syndrome. The next day, he goes to Kmart to
return a defective toaster, but the customer service representative won't allow him to
return it without a receipt. The man flies into a rage and begins yelling at the customer
service worker, complaining about his idiocy and ineptitude and yelling that he wants to
speak with a manager. - ANSWER-Displacement
Defense mechanism
A patient says, "It doesn't feel like it's really happening to me. Sometimes I forget about
it and feel like I did before." - ANSWER-Dissociation
Defense mechanism
A patient tells the genetic counselor about her recent experience battling breast cancer.
She is currently in remission and has had a difficult time in the past but does not
express any outward emotion. However, the counselor feels exhausted and sad. -
ANSWER-Projective identification
(inducing repressed emotion in others)
Defense mechanism
Verified 2025
"Beta-like" chains
chr:11 - ANSWER-(beta)
(gamma)
(epsilon)
(delta)
*Prenatal*
Cystic Fibrosis Carrier Screening - ANSWER-DNA mutation analysis
ACOG recommends 23 gene panel
@ mild vs. classic mutations
@ VUS
@ may identify "affected"
Carrier Frequencies
@ AJ = 1/24 (DR = 94%)
@ N.E. Caucasians = 1/25 (DR = 88%)
@ Latina = 1/46 (DR = 72%)
@ African American = 1/65 (DR = 65%)
@ Asian = 1/94 (DR = 49%)
As carrier frequency decreases --> DR decreases
As carrier frequency decreases --> carrier risk not reduced as much by a negative test
1.) MSI/MMR histochemistry (MSH2/MSH6 complexes, where MSH6 is absent if MSH2
is), (MLH1/PMS2 complexes where PMS2 is absent if MLH1 is absent)
-MSH2 causes loss of MSH6
-MLH1 causes loss of PMS2
2.) BRAF (sporadic)
3.) If BRAF neg, methylation neg, proceed to MMR genetic testing - ANSWER-What is
the testing algorithm for lynch syndrome?
1975 ASHG Genetic Counseling Definition - ANSWER-communication process which
deals with the humans problems associated with the occurence or risk of occurence of a
genetic disorder in a family. This process involves an attempt by one or more
appropriately trained persons to help the individual or family to: (1) comprehend the
medical facts including the diagnosis, probable course of the disorder, and the available
management (2) appreciate the way heredity contributes to the disorder and the risk of
recurrence in specified relatives (3) understand the alternatives for dealing with the risk
of recurrence (4) choose a course of action which seems to them appropriate in their
view of their risk, their family goals, and their ethical and religious standards and act in
,accordance with that decision, and (5) to make the best possible adjustment to the
disorder in an affected family member and/or to the risk of recurrence of that disorder
2 common strategies for down regulating emotion (gross theory) - ANSWER-
reappraisal- changing the way a situation is construed so as to decrease its emotional
impact
Suppression- inhibiting the outward signs of inner feelings
2006 NSGC Genetic Counseling Definition - ANSWER-the process of helping people
understand and adapt to the medical, psychological, and familial implications of genetic
contributions to disease. It intergrates:
-interpretation of family and medical histories to assess the chance of disease or
recurrence
-education about inheritance, testing, managment, prevention, resources, and research
-counseling to promote informed choices and adaption to the risk or condition
2008 ACMG guidelines for SMA carrier screening - ANSWER-Should be offered to ALL
COUPLES
2009 ACOG guidelines for SMA carrier screening - ANSWER-Preconception/prenatal
screening for SMA not recommended in general population, but can be offered to
patients who request it.
2011 ACOG Opinion on CF carrier screening - ANSWER--Offer CF carrier screening to
ALL patients
-Complete analysis of CFTR sequencing is not appropriate for routine screening
-NBS panels that include CF do not replace maternal carrier screening
22q11 deletion syndromes - ANSWER-CATCH-22 = 3rd and 4th pharyngeal pouches
Cleft palate
Abnormal facies
Thymic aplasia
Cardiac defects
Hypocalcemia (parathyroid aplasia)
(ex: DiGeorge syndrome)
22q11.2 deletion syndrome clinical presentation - ANSWER-ASD, developmental delay,
heart defects, cleft palate, psych disorders
22q11.2 deletion syndrome inheritance - ANSWER-autosomal dominant (most happen
by chance though)
3 mimics of denial - ANSWER-Disbelief. Deferral. Dismissal.
3 ways to better instruct adults - ANSWER-i. treat them as a partner in the learning
process
,ii. place value on previous learning and life experiences
iii. promote personal direction and control of learning
6 critiques of autonomy - ANSWER-1. The right to autonomous decision making is not
universally available due to economic and social realities
2. In practice, it is not a right but a privilege that can be revoked based on ses
3. It is a culturally limited concept
4. Even among traditional genetic counseling populations autonomy isn't universally
desired
5. It can justify poor counseling techniques (non directiveness)
6. If the family is our patient, why shouldn't the family have autonomy?
A 28-year-old man with Klinefelter syndrome is referred for genetic counseling. He calls
the genetic counselor several times with questions. The man's voice and personality are
similar to the counselor's brother. She finds it easy to talk to him and enjoys his
questions. She realizes her calls with him are taking longer than they should. -
ANSWER-Countertransference
A 40-year-old woman with Li-Fraumeni syndrome comes for genetic counseling after
testing confirms that she has a TP53 mutation. Her asymptomatic 18-year-old son is
also found to have the same mutation. The mother repeatedly suggests that gene
therapy should be available soon to repair the gene for her son and that perhaps his
test should be repeated in case there was a mix-up at the laboratory. - ANSWER-
Escape Avoidance
Coping style
A genetic counselor is seeing a woman who recently had a termination due to Trisomy
13. The counselor asks the woman how she been feeling since the procedure. The
patient tells the counselor she's fine--she says she went back to work a couple days
later and explains "It wasn't a big deal really." - ANSWER-Distancing: Acting as if
nothing happened
Coping style
A genetic counselor returns positive genetic testing results for TP53 to a male patient.
After hearing the news, the patient says "I don't understand. I thought you said the most
likely test result was that we wouldn't find anything. This doesn't make any sense." -
ANSWER-Disbelief
Reaction to bad news
Mimic of denial
, A genetic counselor's mother recently passed away from breast cancer. When seeing a
young patient with a BRCA1 mutation, the counselor realizes she is becoming
emotional while thinking of her mother but is able to refocus on the patient after
acknowledging her reaction internally. - ANSWER-Self-awareness
A man accompanies his wife to her genetic counseling appointment and they learn she
is positive for a BRCA1 mutation. He asks the counselor, "What percent of women with
this mutation develop breast cancer? What testing methodology was used to detect the
mutation? How does this mutation affect the gene?" - ANSWER-Intellectualization
Defense mechanism
A man calls a prenatal counselor on the phone to discuss his wife's positive NIPT result
for Turner syndrome. He tells the counselor, "I'm not very worried, but my wife is
extremely anxious about the result. I think this has really upset her." - ANSWER-
Projection
Defense mechanism
A man comes to genetic counseling to discuss his diagnosis of HCM. When you ask
him how he's handling the news, he says he's "Fine" but nothing else. Throughout the
session he offers very limited responses and maintains expressionless composure. -
ANSWER-Self-controlling
Coping style
A man receives a new diagnosis of Lynch syndrome. The next day, he goes to Kmart to
return a defective toaster, but the customer service representative won't allow him to
return it without a receipt. The man flies into a rage and begins yelling at the customer
service worker, complaining about his idiocy and ineptitude and yelling that he wants to
speak with a manager. - ANSWER-Displacement
Defense mechanism
A patient says, "It doesn't feel like it's really happening to me. Sometimes I forget about
it and feel like I did before." - ANSWER-Dissociation
Defense mechanism
A patient tells the genetic counselor about her recent experience battling breast cancer.
She is currently in remission and has had a difficult time in the past but does not
express any outward emotion. However, the counselor feels exhausted and sad. -
ANSWER-Projective identification
(inducing repressed emotion in others)
Defense mechanism
