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Related Concept Videos

Genetic Screens02:46

Genetic 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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: 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...
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics 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...
Gene Therapy00:59

Gene Therapy

Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Clinical Trials01:16

Clinical Trials

Clinical trials are prospective experimental studies conducted on humans to determine the safety and efficacy of treatments, drugs, diet methods, and medical devices. Using statistics in clinical trials enables researchers to derive reasonable and accurate conclusions from the collected data, allowing them to make wise decisions in uncertain situations. In medical research, statistical methods are crucial for preventing errors and bias.
There are four phases in a clinical trial. A phase one...

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Related Experiment Video

Updated: May 20, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Genetic testing in clinical practice.

Martha A Nance

    Continuum (Minneapolis, Minn.)
    |July 20, 2012
    PubMed
    Summary

    Genetic testing for neurologic conditions is rapidly advancing. This article provides neurologists with key concepts and questions to guide genetic testing decisions in clinical practice.

    Area of Science:

    • Neurology
    • Genetics
    • Clinical Medicine

    Background:

    • Genetic testing for neurological disorders is becoming more accessible.
    • Neurologists face challenges in integrating genetic testing into patient care.
    • Rapid advancements necessitate updated decision-making frameworks.

    Purpose of the Study:

    • To provide neurologists with practical concepts for making genetic testing decisions.
    • To address the challenges associated with the increasing use of genetic testing.
    • To prepare for future integration of whole-genome sequencing.

    Main Methods:

    • Discussion of clinical cases illustrating challenges in genetic testing.
    • Focus on conceptual frameworks and decision-making questions for neurologists.

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    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

    Published on: January 16, 2019

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    Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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    Published on: August 17, 2022

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    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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    Published on: January 16, 2019

  • Review of current landscape and future trends in genetic diagnostics.
  • Main Results:

    • Identified key considerations for neurologists when ordering genetic tests.
    • Highlighted the complexities and evolving nature of genetic diagnostics in neurology.
    • Emphasized the need for a structured approach to genetic testing decisions.

    Conclusions:

    • Neurologists require specific guidance to navigate genetic testing effectively.
    • The field of genetic testing for neurologic conditions is dynamic and requires continuous learning.
    • Future integration of whole-genome sequencing will further transform neurological practice.