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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article numbere1766
JournalMolecular Genetics and Genomic Medicine
Volume9
Issue number9
DOIs
StatePublished - Sep 2021

Keywords

  • carrier
  • clonal hematopoiesis of indeterminate potential
  • elective genome
  • pharmacogenetics

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