MacTrapp's GC Boards Jeopardy

Oh Baby

Tumor Talk

Syndromic

Risky Business

Psych!

100

You are seeing a couple for preconception counseling who are first cousins. They have a history of three miscarriages. Otherwise, the family history is noncontributory and they are both of Northern European ancestry. You offer the couple:

I. No testing is warranted
II. Karyotype
III. CF carrier screening
IV. SMA carrier screening

A. I only
B. II only
C. III & IV
D. II, III, IV

D. II, III, and IV

Consanguinity is not really relevant here. SMA + CF carrier screening = universal. 3 or more recurrent miscarriages warrants offering karyotype. To note: from guidelines, genetic testing should not be offered solely based on consanguinity.

100

A 50-year-old woman with no personal history of cancer returns to clinic for disclosure of test results for a familial CHEK2 mutation. The genetic counselor shares that her test resulted negative. Before leaving, the woman asks if she can have a referral to the surgery team to discuss mastectomy options. The genetic counselor should clarify that the woman’s lifetime risk of breast cancer is closest to:

A. 2%
B. 12%
C. 50%
D. 80%

B. 12%

100

You are seeing a 23 year old pregnant female in the genetics clinic. The patient has sensorineural hearing loss diagnosed in early childhood. She also has a preauricular pit. She was referred to the genetics clinic after her 20 week ultrasound revealed unilateral renal agenesis in her pregnancy. Mutations in which of the following gene could explain her findings and possibly those of her pregnancy?

A. TCOF1
B. EYA1
C. CDH7
D. COL2A1

B. EYA1 (Branchio-oto-renal syndrome)

100

You are meeting with a 40 year old male patient who was recently diagnosed with HFE-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?

A. “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.”

B. “Even if she has the genes for hemochromatosis, it is unlikely she will get the condition”

C. “This condition is considered adult onset, so we wouldn’t be able to test your daughter now for the condition.”

D. “This condition is usually less severe for females who are menstruating”

The father wants to understand recurrence risk which is influenced by two factors: the mother’s genotype and the penetrance for the condition. While the other statements are true, they do not provide any education or context for the father to understand risks for his daughter.

100

A 17-year-old pregnant woman and her partner come for genetic counseling at 10 weeks gestation because her partner has a diagnosis of juvenile hypophosphatasia (HPP). The woman has not had genetic testing. After reviewing the range of severity of HPP, the genetic counselor offers her carrier screening for HPP to help clarify the possibility of infantile HPP. The couple states they would not mind having a child with similar health concerns as the partner. Which of the following is the BEST response by the counselor to the woman’s to decline carrier testing?

A. Ask the couple to come back with the woman’s mother

B. Conclude the session and ask the couple to reach out if any new concerns arise

C. Ask the partner to describe his personal experience of HPP

D. Ask the woman to describe her understanding of juvenile versus infantile HPP

200

Your patient is coming in for follow up regarding her abnormal Quad screen results that revealed increased AFP. She is very concerned about what these results mean for the pregnancy. Which of the following is most likely NOT the underlying cause of this result:

A. Fetal demise
B. Trisomy 21
C. Fetal kidney abnormality
D. Underestimated gestational age

B. Trisomy 21

AFP is decreased in T21. All others may cause increased AFP.

200

You are meeting with a 29 year old male referred for testing of a familial BRCA2 pathogenic variant. He is at the appointment with his fiance. The patient indicates he wants to pursue testing to inform his cancer risks and future family planning. You take a standard 3-generation pedigree. Maternal history includes a maternal aunt with breast cancer in her 50s. He reports maternal Ashkenazi Jewish ancestry. What testing would be the BEST testing to offer the patient?

A. Familial BRCA2 testing
B. Testing for the three Ashkenazi Jewish founder mutations in BRCA1 and BRCA2
C. A multigene panel
D. Familial BRCA2 testing + three Ashkenazi Jewish founder mutations in BRCA1 and BRCA2

D. Familial BRCA2 testing + three Ashkenazi Jewish founder mutations in BRCA1 and BRCA2

200

You are meeting with a woman who is 20 weeks pregnant with her second child. The ultrasound technician noted supravalvular aortic stenosis and the patient was referred to genetics for a genetic counseling appointment. What condition will you likely discuss with the pregnant woman?

A. Alagille syndrome
B. Costello syndrome
C. Noonan syndrome
D. Williams syndrome

Williams syndrome (supravalvular aortic stenosis is a key and defining type of heart condition for Williams)

Bonus question: what is the chromosome abnormality causes Williams syndrome?

200

Based on this, you explain that they share on average ______ of their genes

A. <1%
B. 1.5%
C. 3%
D. 6.25%

A. <1%

Third cousins. ½ ^ 7 = 1/128 = ~0.78%

200

A genetic counselor is designing a retrospective study to clarify the number of patients referred to connective tissue clinic that had a clinical aortopathy panel ordered and a positive result. The information will be de-identified prior to analysis. Which of the following actions is needed before this information can be queried in the electronic medical record system?

A. Contact each patient and complete informed consent over the phone

B. Provide informed consent at each patient’s next follow-up appointment

C. Submit an IRB proposal and request a waiver of consent

D. Contact Epic support to complete the query and de-identify the data securely

C. Submit an IRB proposal and request a waiver of consent

300

A 32 year old woman at 13 weeks gestation is referred to the prenatal genetics clinic for results of her first trimester screening. The test report indicates a high nuchal translucency, high hCG, and low PAPP-A. Which of the following conditions is the most likely diagnosis in this pregnancy?

A. Trisomy 13
B. Trisomy 18
C. Trisomy 21
D. Trisomy 13 or Trisomy 18

D. Trisomy 21

300

A 30 year old patient comes to clinic because her mother was recently diagnosed with breast cancer at age 60. After reviewing her family history you learn that her mother and maternal aunt have had multiple basal cell carcinomas. The patient recently had an xray after a car accident that revealed calcification of the falx. During her stay in the hospital, it was recommended she see a dermatologist due to some “concerning spots on her skin”. What is the most likely diagnosis for this patient?

A. No diagnosis, her mother was diagnosed with breast cancer at an older age and basal cell carcinomas are common

B. PTCH1 mutation

C. CHEK2 mutation

D. XPA mutation

B. PTCH1 mutation

Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome, and Gorlin syndrome all refer to the basal cell carcinoma predisposition syndromewith distinguishing features of jaw keratocysts, calcification of the falx, palmar pits, and epidermal cyts of the skin

300

Fanconi anemia is caused by mutations in many genes, with various inheritance patterns. Fanconi anemia may be inherited in all but which of the following manners?

A. Autosomal recessive
B. X-linked
C. Autosomal dominant
D. All of the above

D. All of the above

Fanconi anemia is inherited in an autosomal recessive manner, an autosomal dominant manner (RAD51-related FA), or an X-linked manner (FANCB-related FA).

300

In one population of 10,000, the disease frequency of an autosomal recessive condition is 1/100. The same condition is found to occur at a frequency of 1/1000 in a different population cohort. Which of the following would you expect to decrease if the same test was used in both populations?

A. Clinical sensitivity
B. Analytic sensitivity
C. False negative rate
D. Positive predictive value

D. PPV

PPV is dependent on disease frequency. The sensitivity and specificity of the test remains the same, but a decreased disease frequency will also cause the PPV to decrease. Of note, PPV and NPV are population dependent bc they are a function of sensitivity, specificity and prevalence of disease/trait in population. If prevalence is low, the predictive value will be low even in the presence of high specificity and sensitivity.

300

A 7 year old female patient is referred to genetics clinic due to short stature. You discuss genetic testing with the family, the benefits, limitations and risks. When you describe how they do the test (a blood draw) the patient starts sobbing uncontrollably. The parents tell you that she is terrified of needles and has recently started therapy due to this fear and the psychological impact of having blood draws and shots at the doctors office. You and the family decide together to delay the testing until such a time when she is more emotionally prepared. What ethical principle does this decision represent?

a. Beneficence
b. Non maleficence
c. Autonomy
d. Justice

B. Non-maleficence

400

A couple is receiving preconception counseling. They have a 2yo son with Down syndrome. The mother is 30 and the father is 36. Karyotype results revealed 46, XY,der(14;21)(q10;q10),+21. Parental karyotypes were wnl. The recurrence risk for Down syndrome is closest to:

A. 1/3
B. 15%
C. 3.5 times her age related risk
D. Cannot be determined with this information

C. 3.5 times her age-related risk

No balanced translocation found in parents, risk similar to Trisomy 21 nondisjunction recurrence risk

400

Bob, 50yrs old, has a 28 year old daughter who recently shared with her primary care physician that she has two paternal aunts with a history of breast cancer (dx 30s and 40s) and a paternal grandfather who passed away from breast cancer at age 62. Her physician suggested they be seen in the hereditary cancer genetics clinic, but Bob isn’t sure he wants to have genetic testing at this moment given that he wants to update his life insurance policy. He is hoping that there is another way to help his daughter gain more information about her cancer risk in the meantime. Which of the following models is the least appropriate?

A. Klaus
B. BRCAPro
C. BOADICEA
D. Gail model

D. Gail Model

The gail model EXCLUDES 1) paternal history and 2) second degree relatives

400

A 4 month old boy is brought to the clinic after his mother noticed his belly was distended. He was found to have significant hepatomegaly. At this point, which of the following conditions would not be on your differential?

A. Glycogen storage disease Type I

B. Maple syrup urine disease

C. Niemann Pick

D. Hurler syndrome

B. Maple syrup urine disease

A, C, and D are all associated with hepatomegaly or hepatosplenomegaly, while MSUD is not. However, a child with classic MSUD would be unlikely to make it to 4 months of age without significant metabolic decompensation.

400

A one year old boy is being evaluated for developmental delay, jerking movements, and repetitive finger and lip biting. He is accompanied by his mother who is currently pregnant. The geneticist has a high suspicion that the boy has Lesch-Nyhan syndrome. If this diagnosis is correct, the risk that the fetus is also affected is

A.25%
B.50%
C.0%
D.<2%

A. 25%

Lesch-Nyhan is an X-linked condition. The chance that the child is a boy x the chance that the mother passed the mutation = 25%

400

Celeste is a 34-year old woman who comes for genetic counseling to discuss HD testing. Her father recently died of HD at age 61. Celeste comes into the appointment and immediately tells you that she knows she is at 50% risk HD and would like testing. You affirm this as the accurate risk number give your understanding that her father was diagnosed with HD and recently passed. Hoping to gain a better understanding of her experience with the condition and how she is coping with her fathers recent passing you try to elicit more of this story from her. In your conversation she remarks that “I’ll be ok if I have the mutation too because science is moving so fast, I’m sure they’ll be a cure before I even show symptoms.” This comment suggests that she is prone to which of the following coping styles:

A. Plan
B. Self-controlling
C. Seeking social support
D. Escape-avoidance

Escape avoidance is defined as hoping for a miracle. Planning would have been identifying and following as action plan (such as “I want to get tested so that I can think about how I”d like to handle future life decisions and my finances”). Self-controlling would have been trying to keep her feelings to herself. Seeking social support has to do with engaging in conversation in hopes of learning more - something like asking more about testing or inquiring about potential cures, etc.

D. Escape-avoidance

500

You are seeing a couple whose preconception carrier screening revealed that both parents were carriers for Smith Lemli Opitz Syndrome. The couple has recently become pregnant and their OBGYN has told them it is necessary for them to have invasive testing to determine if the pregnancy is affected. They are weary of invasive testing, especially given that they would like this information in order to prepare, but would not consider terminating the pregnancy if affected. You comfort the couple by telling them that second trimester screening may be able to give them an idea (although not diagnostic) of whether or not the pregnancy was affected. If affected, you would expect to see:

A. Low hCG, low AFP, high ue3
B. High hCG, low AFP, low ue3
C. Low hCG, low AFP, low ue3
D. High hCG, high AFP, high ue3

C. Low hCG, low AFP, low ue3

500

You are meeting with a 38 year old woman for disclosure of a recently identified cancer predisposition syndrome. At the return visit to discuss the results, the woman is deeply concerned about what the results mean for her children, who are now 6, 10, and 12 years old. A pathogenic mutation in which of the following genes would not be recommended to test in her children?

A. MEN1
B. SDHB
C. MUTYH
D. FH

C. MUTYH

*the only cancer condition here with adult-onset cancer risk

500

Maternal UPD can be a mechanism for which of the following disorders?

I. Prader-Willi Syndrome
II. Beckwidth-Weidemann Syndrome
III. Russell-Silver Syndrome
IV. Angelman Syndrome

A. All of the above can be caused by maternal UPD
B. I & III
D. II & III
E. II & IV

B. I and III

II and IV are caused by paternal UPD, not maternal

500

Which of the following scenarios has the highest recurrence risk?

A. A mother with a cleft palate having a son with a cleft palate

B. A mother with a cleft palate having a daughter with a cleft palate

C. A father with a cleft palate having a son with a cleft palate

D. A father with a cleft palate having a daughter with a cleft palate

For cleft palate, a male to female transmission has the highest recurrence risk of about 8%

500

You are meeting with a couple to discuss the positive results of their NIPT screening. After describing the results and possible options, the couple is in conflict on whether or not to have an amniocentesis. You tell the couple, “I would encourage you to continue this conversation at home, look at both of your opinions about this, and take some time to reach a decision.” Your statement can be best described as:

A. Non directive counseling
B. Self disclosure
C. Giving advice
E. Directive counseling

C. Giving advice