Practice Exam-Genomic Medicine

Genomic Medicine

Pdf Summary

The document contains practice exam questions related to Genomic Medicine, authored by Claudia Barnett. The first question, identified as Question 25233, asks which method provides critical information for calculating polygenic risk scores. It highlights that genome-wide association studies (GWAS) data are necessary to identify variants associated with diseases and assess their effect sizes. The options provided are cytogenomic microarrays, eQTL mapping studies, exome sequencing, genome-wide association studies, and whole genome sequencing, with the correct answer being genome-wide association studies.<br /><br />The second question, identified as Question 25232, inquires about Tier 1 disorders for population screening according to the Centers for Disease Control and Prevention (CDC). The CDC Tier 1 disorders include hereditary breast and ovarian cancer syndrome, Lynch syndrome, and familial hypercholesterolemia. The options given are Alzheimer disease, autism spectrum disorder, Fragile X syndrome, hereditary breast and ovarian cancer syndrome, and PTEN hamartoma syndrome, with the correct answer being hereditary breast and ovarian cancer syndrome.<br /><br />These questions and answers focus on significant concepts within genomic medicine, such as the calculation of polygenic risk scores using GWAS data and the identification of conditions prioritized for population-level screening by the CDC.

Keywords

Genomic Medicine

Claudia Barnett

polygenic risk scores

genome-wide association studies

GWAS

CDC Tier 1 disorders

hereditary breast and ovarian cancer syndrome

Lynch syndrome

familial hypercholesterolemia

population screening