Quiz: How much do you know about genetic testing?

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This quiz reviews some of the major takeaways from the February 2019 article, New tools for counseling on prenatal genetic testing.

1. Which of the following are NOT elements of counseling prior to routine prenatal genetic testing?

a) Review of family history
b) Review of medical history
c) Review of the patient’s use of medication or controlled substances
d) Discussion of patient’s values and preferences

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Answer: C. Review of the patient’s use of medication or controlled substances

2. ACOG recommends that all pregnant patients be offered which of the following?

a) Aneuploidy screening or diagnostic testing for fetal genetic disorders
b) Carrier screening, including screening for cystic fibrosis and spinal muscular atrophy
c) Additional testing based on the patient’s race and ethnicity
d) All of the above

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Answer: D. All of the above

3. Which of the following statements are true regarding genetic screening?

a) Screening tests help the patient define her risks of passing along a genetic disorder.
b) Screening tests usually involve an invasive procedure such as amniocentesis or chorionic villi sampling.
c) Screening tests are more comprehensive and accurate than diagnostic tests.
d) All of these statements are true.

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Answer: A. Screening tests help the patient define her risks of passing along a genetic disorder.

Screening helps the patient define her risks of passing along a genetic disorder; diagnostic testing tells for certain whether a fetus is affected with a genetic disorder.
 

4. All of the following statements are true with regard to aneuploidy screening except:

a) All pregnant women should be offered the option of screening regardless of age.
b) Different providers and practices should all use the same testing options to promote consistency in testing results.
c) Patients should be provided tools and informational resources prior to any screening procedures being performed.

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Answer: B. Different providers and practices should all use the same testing options to promote consistency in testing results.

Different providers and practices may have access to many different testing options, which is why it is important that patients are offered educational resources and materials that compare and contrast the available options.

5. Which of the following statements are accurate with regard to prenatal carrier testing?

a) In pan-ethnic screening, a wide variety of conditions are tested for, owing to a growing admixture of ethnicities.
b) Expanded carrier screening is the most comprehensive option, including over 100 recessively inherited conditions.
c) The more comprehensive the panel the higher the rate--up to 60%--of a positive screening, necessitating testing of the biological father.
d) All of these statements are true.

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Answer: D. All of these statements are true.

Advances in sequencing techniques have contributed to more comprehensive and less expensive screening options for patients.

6. When considering the patient’s preferences with regard to prenatal genetic testing:

a) The practitioner should draw blood for genetic testing as part of the routine prenatal visit and discuss the results with the patient afterwards.
b) The practitioner should take steps to ensure that the patient understands the difference between genetic screening and diagnostic testing
c) Some patients may decide that they wish to forego screening tests based on their values, needs, and desires.
d) B & C only

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Answer: D. B & C only

Patients should never have blood drawn for prenatal genetic tests without a prior conversation and consent. If a patient decides she does not wish to undergo testing, that decision should be documented in the medical record.