دورية أكاديمية
أعرض في EDS

Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.

التفاصيل البيبلوغرافية
العنوان: Whole-Exome Sequencing of 10 Scientists: Evaluation of the Process and Outcomes.
المؤلفون: Lindor NM; Department of Health Sciences Research, Mayo Clinic, Scottsdale, AZ; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ. Electronic address: nlindor@mayo.edu., Schahl KA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Johnson KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Hunt KS; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ; Division of Hematology and Medical Oncology, Mayo Clinic, Scottsdale, AZ., Mensink KA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Wieben ED; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN., Klee E; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN., Black JL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Highsmith WE Jr; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Thibodeau SN; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Ferber MJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Aypar U; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Ji Y; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Graham RP; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN., Fiksdal AS; Department of Psychology, Brandeis University, Waltham, MA., Sarangi V; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN., Ormond KE; Department of Genetics and Stanford Center for Biomedical Ethics, Stanford School of Medicine, Stanford, CA., Riegert-Johnson DL; Division of Gastroenterology and Hepatology, Mayo Clinic, Jacksonville, FL., McAllister TM; Center for Individualized Medicine, Mayo Clinic, Rochester, MN., Farrugia G; Center for Individualized Medicine, Mayo Clinic, Rochester, MN; Division of Gastroenterology and Hepatology, Mayo Clinic, Rochester, MN., McCormick JB; Biomedical Ethics Program, Mayo Clinic, Rochester, MN; Division of General Internal Medicine, Mayo Clinic, Rochester, MN.
المصدر: Mayo Clinic proceedings [Mayo Clin Proc] 2015 Oct; Vol. 90 (10), pp. 1327-37.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: [Oxford, England] Country of Publication: England NLM ID: 0405543 Publication Model: Print Cited Medium: Internet ISSN: 1942-5546 (Electronic) Linking ISSN: 00256196 NLM ISO Abbreviation: Mayo Clin Proc Subsets: MEDLINE
أسماء مطبوعة: Publication: Jan. 2012- : [Oxford, England] : Elsevier
Original Publication: Rochester, MN : Mayo Foundation for Medical Education and Research
مواضيع طبية MeSH: Attitude of Health Personnel* , Exome*, Genetic Counseling/*methods , Genetic Testing/*methods , Genome-Wide Association Study/*methods, Adult ; Female ; Healthy Volunteers ; Humans ; Male ; Outcome and Process Assessment, Health Care ; Patient Selection ; Research Design ; Sequence Analysis, DNA/methods
مستخلص: Objective: To understand motivations, educational needs, and concerns of individuals contemplating whole-exome sequencing (WES) and determine what amount of genetic information might be obtained by sequencing a generally healthy cohort so as to more effectively counsel future patients.
Patients and Methods: From 2012 to 2014, 40 medically educated, generally healthy scientists at Mayo Clinic were invited to have WES conducted on a research basis; 26 agreed to be in a drawing from which 10 participants were selected. The study involved pre- and posttest genetic counseling and completion of 4 surveys related to the experience and outcomes. Whole-exome sequencing was conducted on DNA from blood from each person.
Results: Most variants (76,305 per person; range, 74,505-77,387) were known benign allelic variants, variants in genes of unknown function, or variants of uncertain significance in genes of known function. The results of suspected pathogenic/pathogenic variants in Mendelian disorders and pharmacogenomic variants were disclosed. The mean number of suspected pathogenic/pathogenic variants was 2.2 per person (range, 1-4). Four pharmacogenomic genes were included for reporting; variants were found in 9 of 10 participants.
Conclusion: This study provides data that may be useful in establishing reality-based patient expectations, outlines specific points to cover during counseling, and increases confidence in the feasibility of providing adequate preparation and counseling for WES in generally healthy individuals.
(Copyright © 2015 Mayo Foundation for Medical Education and Research. Published by Elsevier Inc. All rights reserved.)
التعليقات: Comment in: Mayo Clin Proc. 2015 Oct;90(10):1311-3. (PMID: 26434956)
معلومات مُعتمدة: U19 GM061388 United States GM NIGMS NIH HHS
تواريخ الأحداث: Date Created: 20151006 Date Completed: 20160125 Latest Revision: 20191210
رمز التحديث: 20240829
DOI: 10.1016/j.mayocp.2015.05.021
PMID: 26434960
قاعدة البيانات: MEDLINE
الوصف
تدمد:1942-5546
DOI:10.1016/j.mayocp.2015.05.021