Journal Article

A study of elective genome sequencing and pharmacogenetic testing in an unselected population

Bick, David, Cochran, Meagan, Odom, Katherine, East, Kelly, Moore, Troy, Schroeder, Molly C., Kelly, Melissa, Kelley, Whitley, Greve, Veronica, Myers, Richard M.

2021

Overview

Background Genome sequencing (GS) of individuals without a medical indication, known as elective GS, is now available at a number of centers around the United States. Here we report the results of elective GS and pharmacogenetic panel testing in 52 individuals at a private genomics clinic in Alabama. Methods Individuals seeking elective genomic testing and pharmacogenetic testing were recruited through a private genomics clinic in Huntsville, AL. Individuals underwent clinical genome sequencing with a separate pharmacogenetic testing panel. Results Six participants (11.5%) had pathogenic or likely pathogenic variants that may explain one or more aspects of their medical history. Ten participants (19%) had variants that altered the risk of disease in the future, including two individuals with clonal hematopoiesis of indeterminate potential. Forty‐four participants (85%) were carriers of a recessive or X‐linked disorder. All individuals with pharmacogenetic testing had variants that affected current and/or future medications. Conclusion Our study highlights the importance of collecting detailed phenotype information to interpret results in elective GS. Genome sequencing (GS) of individuals without a medical indication is referred to as elective GS. Among 52 individuals undergoing elective GS, 11.5% (6/52) had pathogenic or likely pathogenic variants that may explain one or more aspects of their medical history, 19% (10/52) had variants that altered the risk of disease in the future, including two individuals with clonal hematopoiesis of indeterminate potential, 85% (44/52) were carriers of a recessive or X‐linked disorder, and 100% of individuals with pharmacogenetic testing had variants that affected current and/or future medications.

• Publisher: John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley
• Subject: Adult / Alzheimer's disease / carrier / Clinical medicine / clonal hematopoiesis of indeterminate potential / elective genome / Family medical history / Female / Gene Frequency / Gene sequencing / Genetic counseling / Genetic disorders / Genetic Testing - statistics & numerical data / Genetics / Genomes / Genomics / Health risks / Healthy Volunteers - statistics & numerical data / Hematopoiesis / Hereditary diseases / Humans / Insurance coverage / Male / Middle Aged / Original / Patients / pharmacogenetics / Pharmacogenomic Variants / Pharmacology / Phenotype / Phenotypes / Population - genetics / Risk assessment / Whole Genome Sequencing - statistics & numerical data