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Question 1

The Positive Predictive Value of a test for a particular disease is independent of the frequency of that disease in the population.

True

False

Question 2

Which of the following best describes the current regulation (in the United States) of genetic tests intended to predict disease risks?

Genetic tests that provide health information can be marketed directly to consumers without a physician and the FDA approves of this.

Most tests are regulated by CLIA (Clinical Laboratory Improvement Amendments) for analytical accuracy, but are not regulated in terms of their clinical utility.

All tests are FDA approved and clinically useful.

There is no regulation of genetic testing in the United States.

Question 3

A SNP (single-nucleotide polymorphism) associated with a disease risk is:

Usually located in an exon of the gene responsible for the disease

Usually abnormal and rare in the population

Often more important than lifestyle or family history in predicting disease risk

Often located in inter-genic regions and not necessarily the causal variant

Question 4

Which of the following is a potential harm of performing genetic testing to predict a patient’s risk of a common disease (e.g. diabetes, heart disease)?

If an increased risk is found, that the patient will feel that the risk is deterministic and not bother to modify lifestyle factors

Inaccurate results due to limitations in our knowledge of the genetics behind the disorder

Patient anxiety if risk is found to be elevated

All of the above

Question 5

When sending predictive genetic testing for common diseases, which of the following is the MOST important to reduce any potential harm to the patient?

Counseling the patient as to the benefits and limitations of testing

Only sending testing in patients with a family history of the condition

Covering as many SNPs as possible to maximize the depth and accuracy of the testing

Selecting the best clinical laboratory with the best techniques

Question 6

Which of the following is TRUE regarding family history?

A person with a family history of a disease but without any risk-associated SNPs can be reassured they did not inherit the risk in their family.

Family history is always a better predictor of disease risk than any genetic test.

Genetic testing is always superior to family history to predict disease risk.

The relative utility of genetic testing or family history in predicting disease varies among common diseases.

Question 7

Various organizations that perform genetic testing to predict common disease risk differ in their methods in terms of:

Which SNPs are tested, mathematics used to combine these, and the total number of SNPs

Which SNPs are tested

Which SNPs are tested, mathematics used to combine these

These studies are standardized across testing platforms and do not differ.

Question 8

Which of the following is NOT currently a reasonable rationale for ordering genetic testing to predict common diseases?

A patient would like to use the test results to avoid recommended preventative therapy for a disease.

A patient is fully informed about the test and any potential value and harms and wishes to know the information.

An individual with a family history of a disease wants to know more about their risk.

A physician requires additional information to make a management decision and feels that genetic information would be helpful.

Question 9

The following four questions are based on the following scenario. Additionally, each question is an opinion question intended to encourage discussion and thought. For each question, you will receive credit for answering the question regardless of the answer chosen.

Scenario:You are a family practice physician, and a couple and their 11 year old daughter come together for their yearly physicals. The couple informs you that they underwent genetic testing through a direct-to-consumer company and discovered that they both are heterozygous for the HFE C282Y allele associated with hereditary hemochromatosis. The parents are concerned that their daughter may have inherited both alleles and might be at risk for hemochromatosis, and ask you if you recommend genetic testing for her, or any other tests to make sure she doesn’t have hemochromatosis. What would you do?

Opinion Question 1: Would you order genetic testing on the daughter at that visit?

Yes

Question 10

Opinion Question 2: Would you order iron studies on the daughter at that visit?

Yes

Question 11

Opinion Question 3: If you selected “No” for "Opinion Question 1", would you EVER order genetic testing?

Yes, after referral to a specialist

Yes, if the parents are not reassured

Yes, after she turns 18

No, but I would refer to a specialist to order testing

No, I would not send genetic testing

I selected “Yes” for "Opinion Question 1."

Question 12

Opinion Question 4: How comfortable are you with your answers?

I would prefer to have spoken to a geneticist, hematologist, or other specialist.

I would prefer to have consulted a publication or text before deciding.

I feel comfortable with my answers.

In accordance with the Coursera Honor Code, I (Anonymous Student) certify that the answers here are my own work.

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Genomic and Precision Medicine

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Genomic and Precision Medicine
by Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD

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Genomic and Precision Medicine

Genomic and Precision Medicineby Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD

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Genomic and Precision Medicine
by Jeanette McCarthy, MPH, PhD, Robert L. Nussbaum, MD