Neurodevelopmental disorders and genetic testing: current approaches and future advances.
Elliott H Sherr1, David J Michelson, Michael I Shevell
1Departments of Neurology and Pediatrics and Institute of Human Genetics, University of California, San Francisco, San Francisco, CA.
Annals of Neurology
|June 19, 2013
Summary
Genetic testing for neurodevelopmental disorders has advanced significantly, offering a crucial diagnostic tool for clinicians. This review outlines the clinical and ethical considerations of these rapidly evolving genetic approaches.
Area of Science:
- Genetics
- Neurodevelopmental Disorders
- Clinical Diagnostics
Background:
- Genetic testing has seen significant advancements in diagnosing intellectual disability, global developmental delay, and other neurodevelopmental disorders over the past decade.
- These genetic approaches represent an important diagnostic tool for clinicians managing complex pediatric and adult neurological conditions.
Purpose of the Study:
- To provide a comprehensive clinical and ethical framework for understanding the recent advances in genetic testing for neurodevelopmental disorders.
- To explore future directions and current limitations of genetic diagnostic approaches in clinical practice.
Main Methods:
- This article is a review synthesizing current literature and clinical practice guidelines.
- It focuses on analyzing the clinical utility and ethical implications of various genetic testing modalities.
Main Results:
- Genetic testing offers improved diagnostic yield for neurodevelopmental disorders.
- The framework highlights the need for careful interpretation of results and consideration of ethical factors.
Conclusions:
- Genetic testing is a powerful tool for diagnosing neurodevelopmental disorders, but requires a robust clinical and ethical framework.
- Continued research and ethical deliberation are essential to optimize the use of these technologies.
Related Concept Videos
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
02:46Genetic Screens
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
01:23Behavioral Genetics and Its Designs
Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
01:29Pharmacogenomics: Identification of New Drug Targets
Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:29Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...