GENETIC COUNSELING

Question 1

What is the estimate carrier frequency of genetic disorders in the Ashkenazi Jewish population?
A. 1/3
B. 1/9
C. 1/16
D. 1/24
E. 1/38

Answer 1

A. 1/3

Question 2

Which one of the following genetic disorders is the most common in Ashkenazi Jews:
A. Canavan disease
B. Cystic fibrosis
C. Familial dysautonomia
D. Gaucher disease
E. Tay-Sachs disease

Answer 2

D. Gaucher disease 1in 18

Tay-sachs 1 in 31

Question 3

Cleft palate (1 in 2650) vs Cleft lip (4400). Which of the following is NOT a risk factor for cleft lip/palate?
A. African American
B. Male
C. Maternal alcohol use during pregnancy
D. Maternal antiepilepsy therapy during first trimester
E. Maternal diabetes
F. Maternal smoking during pregnancy
G. None of the above

Answer 3

A. African American

Question 4

Which of the following races/ethnicities has a higher risk for cleft lip/palate?
A. African Americans
B. Ashkenazi
C. Asian
D. Caucasian
E. Latinos

Answer 4

C. Asians 17 n 1000

Question 5

Which one of the following statements regarding cleft lip is NOT correct?
A. A male fetus with a brother having CL has a higher risk to have CL than a female fetus with a brother having CL
B. A male fetus with a brother having CL has a higher risk to have CL than a male fetus with a sister having CL
C. A male fetus with a brother and mother having CL has a higher risk to have CL than a male fetus with a brother having CL
D. All of the above
E. None of the above

Answer 5

B. A male fetus with a brother having CL has a higher risk to have CL than a male fetus with a sister having CL

• Males are twice as likely to have a cleft lip +/- cleft palate

Question 6

Which of the following medical conditions occurs more often in females than males?
A. Alzheimer’s disease
B. Cleft lip
C. Club foot
D. Pyloric stenosis
E. All of the above
F. None of the above

Answer 6

A. Alzheimer’s disease

Question 7

Which of the following medical conditions occurs more often in males than females?
A. Cleft lip
B. Club foot
C. Hirschsprung disease
D. Pyloric stenosis
E. All of the above
F. None of the above

Answer 7

E. All of the above
Cleft lip - 1 in 1000
Club foot - 1 in 1240
Hirschsprung disease - 1 in 5000
Pyloric stenosis - 2-3.5 per 1000

Question 8

How frequently do newborns have have congenital anomalies?
A. <1%
B. 4%
C. 9%
D. 22%
E. None of the above

Answer 8

B. 4%

Question 9

Which of the following describes the reason why Gaucher disease is more prevalent in Ashkenazi Jews than other populations?
A. Bottleneck and founder effects
B. High mutation rate
C. Natural selection due to environmental factors
D. All of the above
E. None of the above

Answer 9

A. Bottleneck and founder effects

Question 10

The newborn screening program identified a F508del variant and a follow sweat sodium chloride was positive. Which of the following may a genetic counselor NOT offer in this situation?
A. Discussing the recurrent risk
B. Identifying at-risk family members
C. Providing information about support groups
D. Providing the family an understanding of the mode of inheritance
E. Suggesting therapy in a clinical trial
F. All of the above
G. None of the above

Answer 10

E. Suggesting therapy in a clinical trial

Question 11

How frequently does prelingual hearing loss have a genetic etiology in Western nations?
A. >99%
B. 80%
C. 50%
D. 30%
E. 10%
F. <1%

Answer 11

C. 50%

Most common birth defect

Question 12

Which one of the following inheritance modes does most of genetic prelingual hearing loss have?
A. AD
B. AR
C. XD
D. XR
E. Mitochondrial

Answer 12

B. AR

20% Torch infectios

Question 13

Which one of the following disorders accounts for the majority of cases of hemolytic disease of the fetus and newborn (HDFN)?
A. RhD incompatibility
B. RhK incompatibility
C. Rhc incompatibility
D. RhE incompatibility
E. ABO incompatibility

Answer 13

A. RhD incompatibility

Question 14

Age-related macular degeneration is a complex disease trait with both genetic environmental influences. Which one of the following is the single most important environmental risk factor for AMD?
A. Alcohol use
B. Obesity
C. Oral contraceptive use
D. Smoking
E. Radiation

Answer 14

D. Smoking

Question 15

Which one of the following complications do patients Down syndrome have NO increased risk to develop?
A. Alzheimer disease
B. Leukemia
C. Parkinson’s disease
D. Premature aging
E. Seizure

Answer 15

C. Parkinson’s disease

Question 16

Late-onset Alzheimer’s disease is a complex disease trait. Which one of the following is NOT risk factor for it?
A. APOE genotype E4/E4
B. Down syndrome
C. Female sex
D. One brother diagnosed with late-onset AD at the age of 62
E. Oral contraceptives

Answer 16

E. Oral contraceptives

Question 17

After what age do nearly all patients with Down syndrome have neuropathological findings of Alzheimer’s disease?
A. 35
B. 40
C. 45
D. 50
E. 55
F. 60

Answer 17

B. 40

Question 18

Which of the following do children born with reproductive technologies, such as IVF, have an increased risk to develop?
A. achondroplasia
B. Beckwith-Wiedemann syndrome
C. Duchenne muscular dystrophy
D. Hirschsprung disease
E. Miller-Dieker syndrome

Answer 18

B. Beckwith-Wiedemann syndrome

1 in 4000 which is 10x greater than normal population

Question 19

What is the approximate cumulative risk of breast cancer by 70 years if an individual carries a BRCA1 pathogenic variant?
A. 12%
B. 33%
C. 57%
D. 86%
E. >99%
F. None of the above

Answer 19

C. 57%

Question 20

Which one of the following is the estimate of cumulative risk of breast cancer 70 years if an individual carries a BRCA2 pathogenic variant?
A. 9%
B. 21%
C. 49%
D. 71%
E. 86%
F. None of the above

Answer 20

C. 49%

Question 21

What is the estimate of cumulative risk of ovarian cancer by age 70 for carriers of a BRCA1 pathogenic variant?
A. 8%
B. 21%
C. 40%
D. 69%
E. 86%
F. None of the above

Answer 21

C. 40%

Question 22

Which one of the following is the estimate of cumulative risk of ovarian cancer ay age 70 years for carriers of a BRCA2 pathogenic variant?
A. 6%
B. 18%
C. 36%
D. 59%
E. 71%
F. 86%
G. None of the above

Answer 22

B. 18%

Question 23

What is the odds ratio for breast cancer for patients with BRCA1 pathogenic variants as compared to the normal population? hint 60/40 and 10/90
A. 1.5
B. 4
C. 6
D. 9
E. 13.5

Answer 23

E. 13.5

6090/ (4010) = 5400/400

Question 24

What is the relative risk for breast cancer for patients with BRCA1 pathogenic variants as compared to the normal population? hint 60/100 and 10/100
A. 1.5
B. 4
C. 6
D. 9
E. 13.5

Answer 24

C. 6

RR = a/(a+b)/c/(c+d)

Question 25

What is the odds ratio for ovarian cancer for patients with BRCA1 pathogenic variants as compared to the normal population? hint given 40/60 and 1/99 A. 2.48 B. 40 C. 60 D. 66 E. 99

Answer 25

D. 66 OR = 40/60/(1/99) = 40*99/60

Question 26

What is the relative risk for breast cancer for patients with BRCA1 pathogenic variants as compared to the normal population? given 40/60 vs 1/99 A. 2.48 B. 6 C. 40 D. 66 E. 99

Answer 26

C. 40 40/100/(1/100)

Question 27

Which of the following about the prevalence of BRCA1 pathogenic variants is NOT correct? A. BRCA1 pathogenic variants are more common in AA than Hispanics B. More common in Ashkenazi than AA C. More common in Ashkenazi than Caucasians D. More common in Caucasians than Asians E. More common in French Canadians than Europeans

Answer 27

A. BRCA1 pathogenic variants are more common in AA than Hispanics Hispanics 3.5% White 2.2% AA 1.3% Asians 0.5%

Question 28

A 32 yo woman has breast cancer and a BRCA2 mutation. She asks about genetic testing for her 6 and 4 yo daughters. Which of the following responses would be the most appropriate? A. Order BRCA2 Sanger sequencing B. Order BRCA2 Sanger sequencing for the older daughter C. Ordering targeted sequencing for both daughters D. Ordering targeted sequencing for the older daughter E. Referring the family to a pediatric clinic F. Suggest not testing the daughters until they are adults

Answer 28

F. Suggest not testing the daughters until they are adults

Question 29

46 yo Caucasian woman with breast cancer and BRCA2 mutation. She has 16 and 12 year old daughters. The 16 yo has signed papers as has the 12 yo after she was encouraged by her mother and sister. What is the appropriate response? A. Order BRCA2 Sanger sequencing for both daughters B. Order BRCA2 Sanger sequencing for the older daughter C. Order a targeted BRCA2 study for both daughters D. Order a targeted BRCA2 study for the older daughter but not the younger one E. Suggest not testing the daughters until they are adults

Answer 29

D. Order a targeted BRCA2 study for the older daughter but not the younger one

Question 30

Which ethnicity has a higher risk for Crohns disease? A. AA B. Asian C. Caucasian D. Latinos E. Not sure

Answer 30

C. Caucasian

Question 31

Which of the following is not a significant risk factor for Crohns disease? A. Ashkenazi B. Corticosteroids C. Family history of Crohns disease D. Homozygous variants for NOD2 E. Smoking

Answer 31

B. Corticosteroids

Question 32

Which of the following is the most important controllable risk factor for developing Crohns disease? A. Low fiber diet B. NSAIDs C. Sedentary lifestyle D. Smoking E. Not sure

Answer 32

D. Smoking

Question 33

Which ethnicity has highest carrier frequency for cystic fibrosis? A. AA B. Ashkenazi C. Asians D. Caucasians E. Latinos

Answer 33

B. Ashkenazi 1in 24 Caucasians 1 in 25 AA and Hispanics 1 in 60 Asians 1 in 90

Question 34

What is the lifetime risk for COAD among Western populations? A. <0.1% B. 1% C. 5% D. 10% E. 18% F. 36%

Answer 34

C. 5%

Question 35

Which ethnicity has the highest risk for COAD? A. AA B. Ashkenazi C. Asians D. Caucasians E. Latinos

Answer 35

A. AA 25% more than Caucasians

Question 36

36 yo with APC pathogenic variant and numerous colorectal polyps asks about screening for his son? A. Make an appt with the son for pretest counsel B. Offer a colonoscopy to his son C. Refer to pediatrics D. Suggest testing at 18 E. None of the above

Answer 36

A. Make an appt with the son for pretest counsel

Question 37

Which is not a risk factor for Hirschsprung disease? A. Female sex B. RET pathogenic mutation C. Affected sibling D. Down syndrome E. Waardenburg-Shah syndrome

Answer 37

A. Female sex

Question 38

Ethnicity with the highest risk for Hirschsprung disease? A. AA B. Ashkenazi C. Asians D. Caucasians E. Latinos

Answer 38

C. Asians 1.5/1000 Caucasians 2.1 AA 2.8 Asians

Question 39

Parental consult for 2 mo girl with long segment Hirschsprung disease. With of the following are NOT correct? A. Recurrent risk relatively high with long segment Hirschsprung B. Recurrent risk relatively high with female proband C. Recurrent risk is also related to the sex of the fetus D. Recurrent risk was relatively low based on an unaffected mother E. None of the above

Answer 39

D. Recurrent risk was relatively low based on an unaffected mother

Question 40

Which of the following regarding Hirschsprung disease is correct? A. A female probands son has more risk to have the disease than a male probands son B. A female probands son has more risk to have the disease than a male probands daughter C. A female probands daughter has more risk than her son D. A male probands son has more risk than a female probands son E. A male probands son has more risk to have the disease than a female probands daughter F. A male probands son has more risk to have the disease than his son

Answer 40

A.?

Question 41

Which one of the following is not a risk factor for holoprosencephaly? A. Female sex B. Maternal diabetes C. Maternal exposure to cholesterol-lowering agents D. Pathogenic variants in the SHH gene E. Smoking

Answer 41

C.?

Question 42

Father with 42 CAG repeats in the HTT gene and couple presents with 8 yo son. What is the most appropriate response? A. Assure the family that the son will not develop Huntingtons B. Order the test for the son C. Refer the family to a pediatrician D. Suggest testing the mother first E. Suggest not testing the son until he is an adult

Answer 42

E?

Question 43

Father with 42 CAG repeats in the HTT gene, affected family member and couple presents with unborn son. What is the most appropriate response? A. Assure the family that the fetus will not develop Huntingtons B. Order the test with a CVS sample C. Refer the family to a neurologist D. Suggest testing with amniocentesis E. Suggest not testing the fetus until he is an adult

Answer 43

D?

Question 44

Which one of the following is NOT a risk factor for noninsulin-dependent T2DM? A. Alcohol B. DQB1*602 with Asp57 C. Obesity D. Personal history of gestational diabetes E. Stress

Answer 44

B.?

Question 45

Which one of the following is a risk factor for insulin-dependent (type 1) DM? A. Alcohol B. Caucasian C. DQB1*602 with Asp57 D. Obesity E. Personal history of gestational diabetes

Answer 45

C.?

Question 48

Pedigree questions

Question 49

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Question 50

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Question 57

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Question 58

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Question 91

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Question 93

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