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Chapter 11. Genetic Testing and Screening

Condition A is appropriate for population screening. Condition B is not. What possible reasons could explain this?

A. Condition A is a much rarer disorder than condition B.

B. Condition B is easy to screen; A is not.

C. Condition B is a serious condition; Condition A is not very clinically problematic.

D. There is no effective treatment for condition B; there is for A.

E. The screening tests for conditions A and B are both very expensive.

D is the correct answer.

  • A. For population screening, the condition should be sufficiently common enough.

  • B. For population screening, the testing modality should be easy to perform.

  • C. Population screening should be reserved for conditions that are clinically serious.

  • E. For population screening, the testing modality should be inexpensive to perform.

Genetic screening:

A. can identify at risk individuals.

B. is highly cost ineffective.

C. is politically incorrect to target specific ethnic groups in screening.

D. is unlikely to affect general medical practices.

E. is usually limited to DNA testing.

A is the correct answer.

  • B. Genetic screening of necessity has to be cost effective.

  • C. It is absolutely appropriate to identify specific ethnic groups in screening.

  • D. The whole purpose of screening is to effect changes that prevent disease and disability.

  • E. Testing can be by many different modalities (biochemical, and so forth).

Performing which of the following would be considered genetic screening rather than genetic testing?

A. Selected biochemical studies on a newborn for a suspected metabolic disorder.

B. Serum markers in pregnant women to identify fetuses with chromosome disorders.

C. DNA tests on an individual for an adult onset genetic disorder.

D. Neurologic examinations on people with tremors.

E. A sweat test on a child with pneumonia to see if he/she has cystic fibrosis.

B is the correct answer.

  • A. After newborn screening identifies a "presumptive positive," selected biochemical studies are performed to confirm a diagnosis. This, then, is testing.

  • C. This is diagnostic testing.

  • D. An examination is not a genetic test.

  • E. This is diagnostic testing.


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