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 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
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...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
-
Growth Factors and Chemokines: A Comparative Functional Approach Between Invertebrates and Vertebrates
Current Medicinal Chemistry Aortic Dissection: A Review of the Pathophysiology, Management and Prospective Advances
Current Cardiology Reviews Current Genomics in Cardiovascular Medicine
Current Genomics Transforming Growth Factor β Signaling Perturbation in the Loeys-Dietz Syndrome
Current Medicinal Chemistry Common Genetic Conditions of Ischemic Stroke to Keep in Mind
Current Molecular Medicine Climate Change, Climate Variability and Brucellosis
Recent Patents on Anti-Infective Drug Discovery Screening, Evaluation, and Early Management of Acute Aortic Dissection in the ED
Current Cardiology Reviews Recent Inventions on Receptor Tyrosine Kinase RET Modulation
Recent Patents on Biotechnology Actions of Selected Cardiovascular Hormones on Arterial Stiffness and Wave Reflections
Current Pharmaceutical Design Pediatrics for Disability: A Comprehensive Approach to Children with Syndromic Psychomotor Delay
Current Pediatric Reviews The Location of Vascular Flap is Related with Daily Activity Patterns in Non-traumatic Acute Aortic Syndrome in a Chinese Population
Current Signal Transduction Therapy MicroRNAs as Biomarkers for Birth Defects
MicroRNA RNA-Mediated Therapeutics: From Gene Inactivation to Clinical Application
Current Topics in Medicinal Chemistry Inhibition of Matrix Metalloproteinases (MMPs) as a Potential Strategy to Ameliorate Hypertension-Induced Cardiovascular Alterations
Current Drug Targets Identification of Candidate Biomarkers of Acute Aortic Dissection
Recent Patents on DNA & Gene Sequences Periostin as a Heterofunctional Regulator of Cardiac Development and Disease
Current Genomics Sudden Unexpected Death in Infancy (SUDI) — The Role of the Pathologist
Current Pediatric Reviews Clinical Implications of Non-Invasive Measurement of Central Aortic Blood Pressure
Current Vascular Pharmacology Molecular Basis of Young Ischemic Stroke
Current Medicinal Chemistry Complications of the Chest Wall and the Respiratory System After Surgery and Functional Performance
Current Respiratory Medicine Reviews