Question 1

Which of the following best describes a highly penetrant genetic variant, such as those found in BRCA1 or BRCA2 genes?

Accepted Answer

A variant that is rare in the population but has a significant impact on disease risk.

Question 2

A woman in the general population has a 12% lifetime risk of developing breast cancer. If she carries a pathogenic BRCA1 mutation, her risk increases to approximately 60%. What is the relative risk increase for this individual?

Accepted Answer

$$\frac{60\%}{12\%} = 5-$$fold increase

Question 3

Which of the following is a major limitation of direct-to-consumer (DTC) genetic testing compared to clinical-grade genetic testing?

Accepted Answer

DTC testing typically analyzes only specific SNPs rather than sequencing whole genes.

Question 4

A patient receives a negative result for BRCA mutations from a DTC genetic test. Which of the following is a potential risk associated with this result?

Accepted Answer

The patient may be falsely reassured and underestimate their true cancer risk.

Question 5

Why might a DTC genetic test report a higher risk for a disease than is actually present in the general population?

Accepted Answer

Because early studies often used families already affected by the disease, leading to selection bias.

Question 6

In a 2018 study, what percentage of variants reported by DTC genetic testing companies were NOT confirmed by clinical-grade testing?

Accepted Answer

$$40\%$$

Question 7

Which of the following is a reason why confirmatory testing is recommended after a positive DTC genetic test result?

Accepted Answer

There is a significant risk of false positives with DTC testing.

Question 8

A patient with no known family history of disease is considering DTC genetic testing to assess disease risk. What is a key limitation of this approach?

Accepted Answer

DTC testing cannot account for non-genetic factors that influence disease risk.

Question 9

Which of the following best explains why DTC genetic testing is generally less expensive than clinical-grade testing?

Accepted Answer

DTC testing uses mass data approaches and analyzes only selected SNPs.

Question 10

A consumer receives a DTC genetic test result indicating a variant associated with increased cardiac risk. What is a potential consequence if this result is a false positive?

Accepted Answer

The consumer may undergo unnecessary medical testing and experience anxiety.

Question 11

Which of the following is NOT a typical reason people pursue DTC genetic testing?

Accepted Answer

To obtain a legally binding medical diagnosis.

Question 12

Which of the following statements about the interpretation of DTC genetic test results is correct?

Accepted Answer

Consumers may misinterpret results due to lack of professional guidance.

Question 13

If a DTC genetic test only screens for three specific BRCA mutations common in Ashkenazi Jewish populations, what is a major limitation for non-Ashkenazi individuals?

Accepted Answer

The test may miss the majority of BRCA mutations present in non-Ashkenazi populations.

Question 14

Which of the following best describes 'penetrance' in the context of genetic variants?

Accepted Answer

The likelihood that a person with a particular variant will express the associated trait or disease.

Question 15

A DTC genetic test identifies a variant in a gene associated with increased cancer risk. Clinical-grade testing later determines the variant is not pathogenic. What does this scenario illustrate?

Accepted Answer

Interpretation of variants can differ between DTC and clinical-grade testing.

Question 16

Which of the following is a potential psychological risk associated with DTC genetic testing?

Accepted Answer

Increased stress or anxiety from learning about untreatable disease risks.

Question 17

A consumer changes their health behavior (e.g., stops using sunscreen) based on a negative DTC genetic test for skin cancer risk. What is the main concern with this action?

Accepted Answer

The consumer may be falsely reassured and ignore other important risk factors.

Question 18

Which of the following best explains why DTC genetic testing may not be suitable for legal purposes such as paternity testing?

Accepted Answer

DTC testing lacks a chain of custody and is not legally admissible.

Question 19

If a DTC genetic test reports a variant in a gene associated with sudden cardiac death, but clinical-grade testing does not confirm the variant, what is the most likely explanation?

Accepted Answer

The DTC test produced a false positive result.

Question 20

Which of the following is a key reason why DTC genetic testing cannot provide a complete picture of an individual's disease risk?

Accepted Answer

It only considers genetic factors and ignores environmental and lifestyle influences.

Genetic Testing and Cancer Risk: Direct-to-Consumer Testing Overview

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