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

37.6K
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...
37.6K
Next-generation Sequencing03:00

Next-generation Sequencing

93.0K
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....
93.0K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

14.5K
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...
14.5K

You might also read

Related Articles

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

Sort by
Same author

Women faculty achieve promotion to full professor equivalent to men faculty in a subset of US academic pathology departments.

Academic pathology·2025
Same author

Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies.

HGG advances·2024
Same author

Growing Up with the Human Genome.

The journal of applied laboratory medicine·2024
Same author

Cost Effectiveness of Genomic Population Health Screening in Adults: A Review of Modeling Studies and Future Directions.

The journal of applied laboratory medicine·2024
Same author

Growth in perceived clinical genetics competency among primary care providers participating in genomic population health screening.

Journal of community genetics·2023
Same author

Gender differences in appointments to pathology department interim chair positions and subsequent advancement to permanent chair positions.

Academic pathology·2023

Related Experiment Video

Updated: Sep 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.0K

Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.

Robert S Wildin1,2, Christine A Giummo1,2, Aaron W Reiter3

  • 1Department of Pathology & Laboratory Medicine, University of Vermont Health Network and Robert Larner M.D. College of Medicine at the University of Vermont, Burlington, VT, United States.

Frontiers in Genetics
|May 13, 2022
PubMed
Summary

This pilot program offers free DNA sequencing to adults for preventive health, integrating genomic medicine into routine care. It provides actionable genetic insights to primary care providers and patients, demonstrating the feasibility of population genomic screening.

Keywords:
clinical pilotgenomic medicineimplementation research frameworkpilot implementationpopulation healthprimary carereal-worldscreening

More Related Videos

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

10.2K
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

3.2K

Related Experiment Videos

Last Updated: Sep 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.0K
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

10.2K
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

3.2K

Area of Science:

  • Genomic Medicine
  • Population Health
  • Preventive Healthcare

Background:

  • Healthcare systems need to integrate genomics for personalized medicine.
  • Genomic variation is increasingly linked to disease risks.
  • Routine integration of genomics faces challenges in healthcare settings.

Purpose of the Study:

  • To pilot a genomic population health screening program in a large US health system.
  • To assess the feasibility, ethics, and scalability of routine genomic screening.
  • To extract clinical value from genomics in primary care.

Main Methods:

  • Offered no-cost DNA sequencing for 431 genes via next-generation sequencing panels.
  • Provided clinical consultation with actionable "action plans" for providers and patients.
  • Facilitated access to genetic counseling and expert support.

Main Results:

  • Successfully implemented a genomic screening program in primary care over two years.
  • Demonstrated the feasibility of returning genetic results and supporting clinical management.
  • Identified barriers, solutions, and gaps in implementing population genomic screening.

Conclusions:

  • Routine genomic screening in primary care is feasible and can provide clinical value.
  • Effective implementation requires clear action plans and access to genetic expertise.
  • This pilot provides insights for scaling genomic medicine in healthcare systems.