Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genomics02:02

Genomics

36.2K
Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
36.2K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
13.2K
Next-generation Sequencing03:00

Next-generation Sequencing

88.4K
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....
88.4K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Points to consider for the reporting of variants of uncertain significance in germline genetic and genomic testing: A statement of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.

Genetics in medicine open·2026
Same author

Prevalence, semiology and neuroimaging of movements in comatose adults at risk of death by neurologic criteria: a prospective cohort study.

Critical care (London, England)·2026
Same author

Multiplatform curation in the development of ACMG/AMP specifications for Von Hippel-Lindau (VHL) disease.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

"Where do I go from here?" Navigating a lifelong road without a map: the care experiences of hereditary cancer patients.

European journal of human genetics : EJHG·2026

Related Experiment Video

Updated: Jun 12, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K

A Genomic Counseling Model for Population-Based Sequencing: A Pre-Post Intervention Study.

Selina Casalino1, Chloe Mighton2, Marc Clausen3

  • 1Mount Sinai Hospital, Sinai Health, Toronto, ON, Canada; Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|September 20, 2024
PubMed
Summary
This summary is machine-generated.

A new genomic counseling model (GCM) effectively increased knowledge and reduced decisional conflict in individuals undergoing genome sequencing (GS). This scalable approach supports informed decision-making for learning genetic findings in the general population.

Keywords:
Digital toolsGenome sequencingGenomic counselingPopulation screeningPreferences

More Related Videos

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K
gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

12.2K

Related Experiment Videos

Last Updated: Jun 12, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.1K
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
09:33

Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens

Published on: August 25, 2023

1.1K
gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
08:15

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

Published on: October 6, 2014

12.2K

Area of Science:

  • Genomic Medicine
  • Genetic Counseling
  • Public Health Genomics

Background:

  • Genome sequencing (GS) offers new avenues for returning results to healthy individuals.
  • Scalable genetic counseling strategies are essential to meet the growing demand for GS results.
  • Understanding population preferences for receiving GS findings is crucial for effective implementation.

Purpose of the Study:

  • To evaluate the effectiveness of a novel genomic counseling model (GCM) for individuals undergoing GS.
  • To explore the preferences of the general population regarding the return of GS findings.
  • To assess changes in knowledge and decisional conflict after the GCM intervention.

Main Methods:

  • A cohort of 466 participants completed GS and the GCM, which included a digital platform and group webinar.
  • Surveys administered before (T0) and after (T1) the GCM assessed knowledge, decisional conflict, and results preferences.
  • Paired-sample T and Wilcoxon tests evaluated changes, while regression models identified factors influencing preferences.

Main Results:

  • Mean knowledge scores significantly increased for both limitations and benefits of GS (P < .0001).
  • Decisional conflict (DC) significantly decreased post-intervention (P < .0001).
  • The proportion of participants wishing to learn all GS findings increased from 78% to 86% (P < .0001).

Conclusions:

  • The GCM demonstrated effectiveness in increasing knowledge and reducing decisional conflict in a population-based cohort undergoing GS.
  • The findings highlight the GCM's potential as a scalable strategy for genetic counseling in the general population.
  • Older age, attitudes toward genetics, and baseline DC influenced changes in results preferences.