NBME 6 Ethics Q

[phoenix89]

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A 4 year old boy is brought to the physician by his parents because of development delays. His mother has a learning disability and uncle has mental ******ation. Phys Exam shows large ears, macroceph. He has a 3-word vocab. Diagnosis of Fragile X is made. After the parents are informed, they ask if the healthy 12 year old daughter, should be tested to determine carrier status. What's the best response?

a)I recommend testing her now so she can be prepped for what may lie ahead if she has children
b)I recommend waiting until she is older and mature enough to make the decision herself
c)It would be better if she was atleast 16 years of age, at childbearing age, before testing was initiated
d)Let's discuss the situation with her, review the pros and cons, and ask her if she wants to be tested
e)Let's hold off on that and discuss it with her when she is planning to marry and have children.

I am leaning towards B.

 

[Myxedema]

"Genetic testing for carrier status should be deferred until either the child reaches maturity, the child needs to make reproductive decisions, or, in the case of children too immature to make their own reproductive decisions, reproductive decisions need to be made for the child." (AMA Code of Medical Ethics)

I agree on B.

 

[Boardz]

a 4 year old boy is brought to the physician by his parents because of development delays. His mother has a learning disability and uncle has mental ******ation. Phys exam shows large ears, macroceph. He has a 3-word vocab. Diagnosis of fragile x is made. After the parents are informed, they ask if the healthy 12 year old daughter, should be tested to determine carrier status. What's the best response?

A)i recommend testing her now so she can be prepped for what may lie ahead if she has children
b)i recommend waiting until she is older and mature enough to make the decision herself
c)it would be better if she was atleast 16 years of age, at childbearing age, before testing was initiated
d)let's discuss the situation with her, review the pros and cons, and ask her if she wants to be tested
e)let's hold off on that and discuss it with her when she is planning to marry and have children.

I am leaning towards b.

d.

if the disease were huntington's, the answer would be b.

 

[phoenix89]

d.

if the disease were huntington's, the answer would be b.

Will you please elaborate?

 

[RedSoxSuck]

d.

if the disease were huntington's, the answer would be b.

BRS PAGE 235.

6. Testing of genetic disorders
a. if the disorder has a pediatric onset and preventive therapy or treatment is available (e.g CF), genetic testing should be offered or even required.
b. If there are NO PREVENTIVE THERAPIES or treatment for the disorder and it has pediatric onset (i.e Tay sachs), parents should have the discretion as to whether or not to test the child.
c. If the disorder has ADULT ONSET (I.E HUNTINGTON), genetic testing usually should not be done.

 

[RedSoxSuck]

d.

if the disease were huntington's, the answer would be b.

I put b and i was not marked incorrect.

 

[Boardz]

I put b and i was not marked incorrect.

if this is true then I'm wrong and the correct answer is b whether I understand it or not. And since I am wrong on this question I have nothing more to add.

 

[islandCrazy]

Shouldn't the answer be E?

 

[thehundredthone]

Shouldn't the answer be E?

I'm guessing she can decide when she reaches maturity regardless of whether she wants to have kids in the near future or not?

So in this case we're waiting till she's mature because she's phenotypically normal and the information is only required in the interest of the next generation, yes?

 

[islandCrazy]

The quote that Myxedema found from AMA actually caused me to choose E because:

"Genetic testing for carrier status should be deferred until either the child reaches maturity, the child needs to make reproductive decisions, or, in the case of children too immature to make their own reproductive decisions, reproductive decisions need to be made for the child." (AMA Code of Medical Ethics)

The question is asking about carrier state so unless she decides to reproduce she won't need to know her status.