دورية أكاديمية
Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.
| العنوان: | Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study. |
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| المؤلفون: | Wang L; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Division of Clinical Pharmacology, Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN., Scherer SE; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Bielinski SJ; Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Muzny DM; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Jones LA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Black JL 3rd; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Moyer AM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Giri J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Sharp RR; Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN., Matey ET; Department of Pharmacy, Mayo Clinic, Rochester, MN., Wright JA; Department of Pharmacy, Mayo Clinic, Rochester, MN., Oyen LJ; Department of Pharmacy, Mayo Clinic, Rochester, MN., Nicholson WT; Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN., Wiepert M; Department of Information Technology, Mayo Clinic, Rochester, MN., Sullard T; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Curry TB; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Department of Anesthesiology and Perioperative Medicine, Mayo Clinic, Rochester, MN., Rohrer Vitek CR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., McAllister TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., St Sauver JL; Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN; Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN., Caraballo PJ; Division of General Internal Medicine, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Lazaridis KN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Venner E; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Qin X; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Hu J; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Kovar CL; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Korchina V; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Walker K; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Wu TJ; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Raj R; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Denson S; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Liu W; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Chandanavelli G; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Zhang L; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX., Wang Q; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Kalra D; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX., Karow MB; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Harris KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Sicotte H; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Peterson SE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Barthel AE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Moore BE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Skierka JM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kluge ML; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kotzer KE; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Kloke K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Vander Pol JM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Marker H; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Sutton JA; Department of Information Technology, Mayo Clinic, Rochester, MN., Kekic A; Department of Pharmacy, Mayo Clinic, Phoenix, AZ., Ebenhoh A; Department of Pharmacy, Mayo Clinic, Rochester, MN., Bierle DM; Division of General Internal Medicine, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Schuh MJ; Department of Pharmacy, Mayo Clinic, Jacksonville, FL., Grilli C; Department of Pharmacy, Mayo Clinic, Phoenix, AZ., Erickson S; Supply Chain Management, Mayo Clinic, Rochester, MN., Umbreit A; Department of Pharmacy, Mayo Clinic Health System, Mankato, MN., Ward L; Department of Pharmacy, Mayo Clinic, Jacksonville, FL., Crosby S; Department of Pharmacy, Mayo Clinic, Jacksonville, FL., Nelson EA; Department of Pharmacy, Mayo Clinic, Phoenix, AZ., Levey S; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ., Elliott M; Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Peters SG; Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Pereira N; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Frye M; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN., Shamoun F; Department of Cardiovascular Medicine, Mayo Clinic, Phoenix, AZ., Goetz MP; Division of Medical Oncology, Department of Oncology, Mayo Clinic, Rochester, MN., Kullo IJ; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN., Wermers R; Division of Endocrinology, Diabetes, Metabolism, and Nutrition, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Anderson JA; Department of Pharmacy, Mayo Clinic, Rochester, MN., Formea CM; Department of Pharmacy, Mayo Clinic, Rochester, MN., El Melik RM; Department of Pharmacy, Mayo Clinic, Rochester, MN., Zeuli JD; Department of Pharmacy, Mayo Clinic, Rochester, MN., Herges JR; Department of Pharmacy, Mayo Clinic, Rochester, MN., Krieger CA; Department of Pharmacy, Mayo Clinic, Rochester, MN., Hoel RW; Department of Pharmacy, Mayo Clinic, Rochester, MN., Taraba JL; Department of Pharmacy, Mayo Clinic, Rochester, MN., St Thomas SR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Absah I; Division of Pediatric Gastroenterology and Hepatology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN., Bernard ME; Department of Family Medicine, Mayo Clinic, Rochester, MN., Fink SR; Division of Community Internal Medicine, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Gossard A; Division of Gastroenterology and Hepatology, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Grubbs PL; Department of Nursing, Mayo Clinic, Rochester, MN., Jacobson TM; Department of Nursing, Mayo Clinic, Rochester, MN., Takahashi P; Division of Community Internal Medicine, Department of Internal Medicine, Mayo Clinic, Rochester, MN., Zehe SC; Legal Department, Mayo Clinic, Rochester, MN., Buckles S; Department of Public Affairs, Mayo Clinic, Rochester, MN., Bumgardner M; Department of Nursing, Mayo Clinic, Rochester, MN., Gallagher C; Department of Public Affairs, Mayo Clinic, Rochester, MN., Fee-Schroeder K; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Nicholas NR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Powers ML; Biospecimens Accessioning and Processing Laboratory, Mayo Clinic, Rochester, MN., Ragab AK; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Richardson DM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Stai A; Department of Information Technology, Mayo Clinic, Rochester, MN., Wilson J; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Pacyna JE; Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN., Olson JE; Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN; Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN., Sutton EJ; Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN., Beck AT; Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN., Horrow C; Biomedical Ethics Research Program, Mayo Clinic, Rochester, MN., Kalari KR; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Larson NB; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Liu H; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN., Wang L; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN., Lopes GS; Division of Epidemiology, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Borah BJ; Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN; Division of Health Care Policy and Research, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Freimuth RR; Department of Artificial Intelligence and Informatics, Mayo Clinic, Rochester, MN., Zhu Y; Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, Mayo Clinic, Rochester, MN., Jacobson DJ; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Hathcock MA; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Armasu SM; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., McGree ME; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Jiang R; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN., Koep TH; OneOme, LLC, Minneapolis, MN., Ross JL; OneOme, LLC, Minneapolis, MN., Hilden MG; OneOme, LLC, Minneapolis, MN., Bosse K; OneOme, LLC, Minneapolis, MN., Ramey B; OneOme, LLC, Minneapolis, MN., Searcy I; OneOme, LLC, Minneapolis, MN., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Human Genome Sequencing Center Clinical Laboratory, Baylor College of Medicine, Houston, TX; School of Public Health, University of Texas Health Science Center at Houston (UTHealth), Houston, TX., Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. Electronic address: agibbs@bcm.edu., Weinshilboum RM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Division of Clinical Pharmacology, Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, MN. Electronic address: weinshilboum.richard@mayo.edu. |
| المصدر: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 May; Vol. 24 (5), pp. 1062-1072. Date of Electronic Publication: 2022 Mar 21. |
| نوع المنشور: | Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| مواضيع طبية MeSH: | Cytochrome P-450 CYP2D6*/genetics , Pharmacogenetics*/methods, Academic Medical Centers ; Base Sequence ; Genotype ; Humans |
| مستخلص: | Purpose: The Mayo-Baylor RIGHT 10K Study enabled preemptive, sequence-based pharmacogenomics (PGx)-driven drug prescribing practices in routine clinical care within a large cohort. We also generated the tools and resources necessary for clinical PGx implementation and identified challenges that need to be overcome. Furthermore, we measured the frequency of both common genetic variation for which clinical guidelines already exist and rare variation that could be detected by DNA sequencing, rather than genotyping. Methods: Targeted oligonucleotide-capture sequencing of 77 pharmacogenes was performed using DNA from 10,077 consented Mayo Clinic Biobank volunteers. The resulting predicted drug response-related phenotypes for 13 genes, including CYP2D6 and HLA, affecting 21 drug-gene pairs, were deposited preemptively in the Mayo electronic health record. Results: For the 13 pharmacogenes of interest, the genomes of 79% of participants carried clinically actionable variants in 3 or more genes, and DNA sequencing identified an average of 3.3 additional conservatively predicted deleterious variants that would not have been evident using genotyping. Conclusion: Implementation of preemptive rather than reactive and sequence-based rather than genotype-based PGx prescribing revealed nearly universal patient applicability and required integrated institution-wide resources to fully realize individualized drug therapy and to show more efficient use of health care resources. Competing Interests: Conflict of Interest Liewei Wang, John Logan Black III, and Richard M. Weinshilboum are cofounders of and stockholders in OneOme, LLC, which was used only to return results to the study participants. Additionally, John Logan Black III and Mayo Clinic Ventures have applied for a patent on the CNVAR software cited in this study as well as the methodology upon which the software is based. All other authors declare no conflicts of interest. (Copyright © 2022 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.) |
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| معلومات مُعتمدة: | U19 GM061388 United States GM NIGMS NIH HHS; R01 AG034676 United States AG NIA NIH HHS; R01 GM028157 United States GM NIGMS NIH HHS; R33 AG058738 United States AG NIA NIH HHS; U01 HG005137 United States HG NHGRI NIH HHS; U01 HG006379 United States HG NHGRI NIH HHS; R01 GM125633 United States GM NIGMS NIH HHS |
| فهرسة مساهمة: | Keywords: Clinical translation; Implementation; Individualized medicine; Pharmacogenomics; Pre-emptive clinical DNA sequencing |
| المشرفين على المادة: | EC 1.14.14.1 (Cytochrome P-450 CYP2D6) |
| تواريخ الأحداث: | Date Created: 20220325 Date Completed: 20220510 Latest Revision: 20240607 |
| رمز التحديث: | 20240607 |
| مُعرف محوري في PubMed: | PMC9272414 |
| DOI: | 10.1016/j.gim.2022.01.022 |
| PMID: | 35331649 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0366 |
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| DOI: | 10.1016/j.gim.2022.01.022 |