Abstract
Next-generation sequencing (NGS) technologies allow for the generation of whole exome or whole genome sequencing data, which can be used to identify novel genetic alterations associated with defined phenotypes or to expedite discovery of functional variants for improved patient care. Because this robust technology has the ability to identify all mutations within a genome, incidental findings (IF)- genetic alterations associated with conditions or diseases unrelated to the patient’s present condition for which current tests are being performed- may have important clinical ramifications. The current debate among genetic scientists and clinicians focuses on the following questions: 1) should any IF be disclosed to patients, and 2) which IF should be disclosed – actionable mutations, variants of unknown significance, or all IF? Policies for disclosure of IF are being developed for when and how to convey these findings and whether adults, minors, or individuals unable to provide consent have the right to refuse receipt of IF. In this review, we detail current NGS technology platforms, discuss pressing issues regarding disclosure of IF, and how IF are currently being handled in prenatal, pediatric, and adult patients.
Keywords: Incidental findings, Next-generation sequencing, Disclosure, ACMG.
Current Genomics
Title:Management of Incidental Findings in the Era of Next-generation Sequencing
Volume: 16 Issue: 3
Author(s): Heather L. Blackburn, Bradley Schroeder, Clesson Turner, Craig D. Shriver, Darrell L. Ellsworth and Rachel E. Ellsworth
Affiliation:
Keywords: Incidental findings, Next-generation sequencing, Disclosure, ACMG.
Abstract: Next-generation sequencing (NGS) technologies allow for the generation of whole exome or whole genome sequencing data, which can be used to identify novel genetic alterations associated with defined phenotypes or to expedite discovery of functional variants for improved patient care. Because this robust technology has the ability to identify all mutations within a genome, incidental findings (IF)- genetic alterations associated with conditions or diseases unrelated to the patient’s present condition for which current tests are being performed- may have important clinical ramifications. The current debate among genetic scientists and clinicians focuses on the following questions: 1) should any IF be disclosed to patients, and 2) which IF should be disclosed – actionable mutations, variants of unknown significance, or all IF? Policies for disclosure of IF are being developed for when and how to convey these findings and whether adults, minors, or individuals unable to provide consent have the right to refuse receipt of IF. In this review, we detail current NGS technology platforms, discuss pressing issues regarding disclosure of IF, and how IF are currently being handled in prenatal, pediatric, and adult patients.
Export Options
About this article
Cite this article as:
L. Blackburn Heather, Schroeder Bradley, Turner Clesson, D. Shriver Craig, L. Ellsworth Darrell and E. Ellsworth Rachel, Management of Incidental Findings in the Era of Next-generation Sequencing, Current Genomics 2015; 16 (3) . https://dx.doi.org/10.2174/1389202916666150317232930
DOI https://dx.doi.org/10.2174/1389202916666150317232930 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...read more
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Molecular Targets and Abdominal Aortic Aneurysms
Recent Patents on Cardiovascular Drug Discovery Role, Function and Therapeutic Potential of microRNAs in Vascular Aging
Current Vascular Pharmacology Association of Viruses in the Development of Cardiovascular Diseases
Current Pharmaceutical Design The Multiple Aspects of Stroke and Stem Cell Therapy
Current Molecular Medicine Studies on Nonsense Mediated Decay Reveal Novel Therapeutic Options for Genetic Diseases
Recent Patents on DNA & Gene Sequences Chemistry and Pharmacology of Angiotensin-Converting Enzyme Inhibitors
Current Pharmaceutical Design miR-29c-3p is an Effective Biomarker of Abdominal Aortic Aneurysm in Patients Undergoing Elective Surgery
MicroRNA Complications of the Chest Wall and the Respiratory System After Surgery and Functional Performance
Current Respiratory Medicine Reviews MicroRNAs as Biomarkers for Birth Defects
MicroRNA Clinical Characteristics and Treatment of Cardiomyopathies in Children
Current Cardiology Reviews Inflammaging and Proteases in Abdominal Aortic Aneurysm
Current Vascular Pharmacology Volume Measurement in the Diagnosis of Mounier Kuhn Syndrome and an Unknown Accompanying Pathology: Pulmonary Artery Enlargement
Current Medical Imaging Spontaneous Isolated Dissection of Iliac Artery: Unique Vascular Event Resulting from Various Etiologies
Vascular Disease Prevention (Discontinued) A Review of Selected Adult Congenital Heart Diseases Encountered in Daily Practice
Current Cardiology Reviews Evaluation of Anti-aging Compounds Using the Promoters of Elastin and Fibrillin-1 Genes Combined with a Secreted Alkaline Phosphatase Reporter in Normal Human Fibroblasts
Current Pharmaceutical Biotechnology Potential Replication of Induced Pluripotent Stem Cells for Craniofacial Reconstruction
Current Stem Cell Research & Therapy Craniocervical Dissections: Radiologic Findings, Pitfalls, Mimicking Diseases: A Pictorial Review
Current Medical Imaging Intracranial Non-traumatic Aneurysms in Children and Adolescents
Current Pediatric Reviews Antibody Targeting of TGF-β in Cancer Patients
Current Pharmaceutical Biotechnology Clinical Implications of Non-Invasive Measurement of Central Aortic Blood Pressure
Current Vascular Pharmacology