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Question 1

Which of the following studies is most likely to suffer from confounding or other bias?

A cohort study run in a hospital setting

A case-control study in an ethnically homogeneous population

A case-control study where the cases and controls were genotyped using different sequencing techniques

A cohort study that just includes women

Question 2

Which of the following is a characteristic of a complex disease?

Usually a single genetic cause

Clear inheritance pattern

High penetrance

Variable expressivity

Question 3

What is the relationship between an odds ratio and relative risk?

Relative risk usually is an overestimate of the odds ratio.

The odds ratio can be used to estimate the relative risk if the prevalence of disease in a population is known.

These are equivalent and can be used interchangeably.

Both can be calculated from a case-control study.

Question 4

Why don’t GWAS studies use a p-value of less than 0.05 like everyone else?

GWAS studies do consider a hit to be statistically significant if the p-value is 0.05 or less.

A 5% chance of a false-positive hit, multiplied by a million SNPs, would be a lot of false positives.

A lower p-value indicates that a genetic variant has a larger effect on the disease.

A lower p-value guards against bias based on racial differences in the study.

Question 5

Which of the following patients is LEAST likely to have a genetic disease?

Diabetes patient whose mother was lean and diabetic and is himself lean

Patient with a sister who had a heart attack in her 30’s

75 year old coronary disease patient with both parents who died of coronary artery disease in their 90’s

Female breast cancer patient with a brother who had breast cancer

Question 6

Which of the following statements best reflects the status of our knowledge of genetic variants underlying complex diseases?

The vast majority of variants found to be associated with complex diseases using GWAS have allele frequencies greater than 10%

We know the causal variant for most of the significant GWAS associations

We have found dozens of gene variants associated with these diseases and are able to explain nearly all of the heritability of these diseases

The odds ratio for variants associated with most complex diseases is typically greater than 2.0

Question 7

Which of the following is a correct way to communicate test results for a genetic variant with a relative risk of 1.25, where the disease prevalence is 8%?

“You are 25% more likely to get this disease than the general population or someone without the disease.”

They are all correct ways to communicate these results.

“There is a 90% chance you will not get this disease.”

“Your risk of getting this disease 1.25-times higher than someone in the general population or someone without the disease.”

“Your risk of getting this disease is 10%, compared to 8% for the general population or someone without the disease.”

Question 8

The following is an opinion question to encourage discussion and thought on the intersection of ethics and genetics. Selecting any answer will garner a correct answer.

Which type of statement do you personally prefer when communicating a patient’s risk of a common disease based on a genetic test?

“Your risk of getting this disease is 10%, compared to 8% for the general population.”

“You are 25% more likely to get this disease than the general population.”

“There is a 90% chance you will not get this disease.”

“Your risk of getting this disease is 1.25-times higher than someone in the general population.”

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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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