Question 1

Which of the following genetic conditions is NOT considered a 'tier 1' condition with evidence for interventions that reduce morbidity and mortality, according to the Centers for Disease Control and Prevention (CDC)?

Accepted Answer

Cystic fibrosis

Question 2

In the Geisinger MyCode study, what percentage of participants with a pathogenic/likely pathogenic variant in a tier 1 gene were unaware of their genetic result prior to genomic screening?

Accepted Answer

$$87\%$$

Question 3

A 60-year-old woman with no personal or family history of cancer is found to have a pathogenic BRCA1 variant through population genomic screening. According to the study, what is the most likely impact of this result?

Accepted Answer

She will be recommended for risk management procedures such as breast MRI or risk-reducing surgery.

Question 4

Which of the following best describes the approach used to select variants for reporting in the Geisinger MyCode genomic screening program?

Accepted Answer

Only variants classified as pathogenic/likely pathogenic by multiple laboratories or expert panels are reported.

Question 5

A participant with a newly disclosed FH-associated variant is found to have an LDL-C of $$210\ \mathrm{mg/dL}$$ after screening. According to the study, what is the recommended clinical action?

Accepted Answer

Initiate or intensify lipid-lowering therapy to achieve a lower LDL-C goal.

Question 6

Which statistical test was used in the study to compare categorical variables such as sex and ethnicity between study participants and the broader MyCode cohort?

Accepted Answer

Pearson’s chi-square test

Question 7

What was the observed effect of postdisclosure genetic counseling on the likelihood of participants undergoing recommended risk management procedures?

Accepted Answer

It significantly increased the odds, with an odds ratio of $$2.90.$$

Question 8

A 55-year-old man with a newly identified Lynch syndrome variant undergoes colonoscopy and is found to have colon adenomas. According to the study, what is the likely attribution for this diagnosis?

Accepted Answer

The diagnosis can be attributed to the results disclosure if EHR documentation supports it.

Question 9

Which of the following is a limitation of using electronic health records (EHR) for outcome assessment in genomic screening studies, as discussed in the article?

Accepted Answer

EHRs may not capture diagnoses and procedures performed outside the health-care system.

Question 10

If $$70\% of $$eligible participants had at least one recommended risk management procedure after results disclosure, and there were $$255$$ eligible participants, how many underwent risk management?

Accepted Answer

$$179$$

Question 11

Which of the following best explains why population genomic screening for familial hypercholesterolemia (FH) may be most beneficial if started in childhood?

Accepted Answer

Early identification allows for lifestyle changes and statin therapy before atherosclerotic disease develops.

Question 12

A participant with a pathogenic variant in a tier 1 gene had a risk management procedure both before and after results disclosure. According to the study, what is a potential challenge in attributing the procedure to the genetic result?

Accepted Answer

It is difficult to determine whether the procedure was performed due to the genetic result or for other reasons.

Question 13

Which of the following is NOT a gene associated with Lynch syndrome as described in the study?

Accepted Answer

APOB

Question 14

In the logistic regression analysis, which variable was associated with a lower likelihood of postdisclosure risk management compared to HBOC?

Accepted Answer

Having a Lynch syndrome variant

Question 15

Which of the following best summarizes the main conclusion of the study?

Accepted Answer

Genomic screening programs can identify previously unrecognized individuals at increased risk and facilitate risk management and early detection.

Question 16

A participant with a pathogenic variant in LDLR is found to have xanthomas and a new diagnosis of atherosclerosis after results disclosure. According to the study, what percentage of FH participants with a postdisclosure diagnosis had EHR documentation attributing the diagnosis to the genetic result?

Accepted Answer

$$65\%$$

Question 17

Which of the following is a reason why the findings of this study may have limited generalizability?

Accepted Answer

The study population was racially and ethnically homogeneous.

Question 18

If a participant had a pathogenic variant in BRCA2 but no personal or family history of cancer, what proportion of such individuals in the study were found to have relevant personal or family history overall?

Accepted Answer

$$65\%$$

Question 19

Which of the following best describes the role of the American College of Medical Genetics and Genomics (ACMG) in the MyCode program?

Accepted Answer

They provide guidelines for which genes are considered actionable and should be analyzed.

Genomic Screening for Actionable Genetic Conditions: Clinical Outcomes and Implications

Guida di studio - Domande di pratica

Study guide - Flashcard