Patients' views on incidental findings from clinical exome sequencing
نویسندگان
چکیده
منابع مشابه
Patients' views on incidental findings from clinical exome sequencing
This article characterizes the opinions of patients and family members of patients undergoing clinical genomic-based testing regarding the return of incidental findings from these tests. Over sixteen months, we conducted 55 in-depth interviews with individuals to explore their preferences regarding which types of results they would like returned to them. Responses indicate a diversity of attitu...
متن کاملMolecular findings among patients referred for clinical whole-exome sequencing.
IMPORTANCE Clinical whole-exome sequencing is increasingly used for diagnostic evaluation of patients with suspected genetic disorders. OBJECTIVE To perform clinical whole-exome sequencing and report (1) the rate of molecular diagnosis among phenotypic groups, (2) the spectrum of genetic alterations contributing to disease, and (3) the prevalence of medically actionable incidental findings su...
متن کاملNot-so-incidental findings: the ACMG recommendations on the reporting of incidental findings in clinical whole genome and whole exome sequencing.
Introduction The issue of incidental findings in genomics research has been contentious, particularly in whole genome sequencing (WGS) and whole exome sequencing (WES). An incidental or secondary finding has generally been defined as ‘a finding concerning an individual research participant that has potential health or reproductive importance and is discovered in the course of conduct – but is b...
متن کاملIncidental medical information in whole-exome sequencing.
Genomic technologies, such as whole-exome sequencing, are a powerful tool in genetic research. Such testing yields a great deal of incidental medical information, or medical information not related to the primary research target. We describe the management of incidental medical information derived from whole-exome sequencing in the research context. We performed whole-exome sequencing on a mono...
متن کاملPharmacogenomic findings from clinical whole exome sequencing of diagnostic odyssey patients
BACKGROUND We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort. METHODS WES results on 94 patients included a subset of PGx variants in CYP2C...
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ژورنال
عنوان ژورنال: Applied & Translational Genomics
سال: 2015
ISSN: 2212-0661
DOI: 10.1016/j.atg.2015.02.005