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A study of elective genome sequencing and pharmacogenetic testing in an unselected population
oleh: Meagan Cochran, Kelly East, Veronica Greve, Melissa Kelly, Whitley Kelley, Troy Moore, Richard M. Myers, Katherine Odom, Molly C. Schroeder, David Bick
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2021-09-01 |
Deskripsi
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.