Related Experiment Video

Updated: Feb 9, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
11:15

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors

Published on: September 20, 2016

25.1K

Secondary findings from next-generation sequencing: what does actionable in childhood really mean?

Julie Richer1, Anne-Marie Laberge2,3

  • 1Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 8, 2018
PubMed

Insights

Actionability of childhood genetic screening results depends on symptom onset and evidence quality. Focus on conditions with early onset and moderate-to-high evidence for interventions to guide clinical practice.

Area of Science:

  • Genetics
  • Pediatrics
  • Medical Screening

Background:

  • Secondary findings in childhood genetic screening present challenges for clinical management.
  • Defining 'actionability' is crucial for determining appropriate interventions and disclosures.

Purpose of the Study:

  • To assess the actionability of secondary findings in childhood using a screening framework.
  • To establish criteria for defining actionable genetic conditions in pediatric populations.

Main Methods:

  • Applied World Health Organization screening criteria to 31 disorders from the American College of Medical Genetics and Genomics SF v.2.0 list.
  • Categorized disorders by the proportion of cases presenting in childhood and evaluated the quality of evidence for intervention recommendations.

Main Results:

  • Disorders varied in age of onset and proportion of childhood presentation.
  • Only tuberous sclerosis complex had high-quality evidence for recommendations; 15 disorders had moderate-quality evidence.
  • Evidence quality for most interventions was low or very low.

Conclusions:

  • Actionability in childhood should consider both the proportion of childhood-onset cases and the quality of supporting evidence.
  • Recommend limiting childhood disclosure to disorders with majority childhood presentation and moderate-to-high quality evidence for interventions.
Abstract

Keywords:
ACMG gene listactionabilitychildren and adolescentsopportunistic screeningsecondary findings

More Related Videos

Examining Recall Memory in Infancy and Early Childhood Using the Elicited Imitation Paradigm06:35

Examining Recall Memory in Infancy and Early Childhood Using the Elicited Imitation Paradigm

Published on: April 28, 2016

35.5K
Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing08:51

Identification of Mouse and Human Antibody Repertoires by Next-Generation Sequencing

Published on: March 15, 2019

13.1K

Related Concept Videos

Secondary Messengers in Hormone Action01:26

Secondary Messengers in Hormone Action

Water-soluble hormones cannot cross the plasma membrane, so they rely on protein receptors that span the membrane to trigger intracellular signaling pathways. These pathways then activate second messengers inside the cell, including cAMP or calcium ions.
Many hormones bind to transmembrane G protein-coupled receptors that connect to regulatory G proteins. These G proteins can then activate enzymes such as adenylyl cyclase or phospholipase C. Adenylyl cyclase converts ATP to cAMP, activating...
5.5K
Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
98.7K
Generation of Action Potential in Skeletal Muscles01:24

Generation of Action Potential in Skeletal Muscles

Every cell in the body maintains a membrane potential due to an uneven distribution of positive and negative charges across its plasma membrane. The membrane potential is measured in millivolts and quantifies the difference in charge across the membrane.
Like neurons, muscle cells are also regarded as excitable due to their capacity to change in response to stimuli, primarily due to voltage-gated ion channels embedded in their plasma membranes, which get activated by alterations in the...
8.9K
Fixed Action Patterns01:06

Fixed Action Patterns

A fixed action pattern (FAP) is a specific, hard-wired sequence of behaviors that occurs in response to an external stimulus, called a sign stimulus. The behavior is “fixed” because it is essentially unchangeable—proceeding similarly across individuals of a species every time it occurs.
17.7K
Primary and Secondary Growth in Roots and Shoots03:02

Primary and Secondary Growth in Roots and Shoots

Vascular plants, which account for over 90% of the Earth’s vegetation, all undergo primary growth—which lengthens roots and shoots. Many land plants, notably woody plants, also undergo secondary growth—which thickens roots and shoots.
60.6K
Secondary Active Transport01:55

Secondary Active Transport

One example of how cells use the energy contained in electrochemical gradients is demonstrated by glucose transport into cells. The ion vital to this process is sodium (Na+), which is typically present in higher concentrations extracellularly than in the cytosol. Such a concentration difference is due, in part, to the action of an enzyme “pump” embedded in the cellular membrane that actively expels Na+ from a cell. Importantly, as this pump contributes to the high concentration of...
138.1K