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

Genetic Screens02:46

Genetic Screens

4.6K
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...
4.6K
Genomics02:02

Genomics

35.1K
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...
35.1K
Next-generation Sequencing03:00

Next-generation Sequencing

87.5K
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....
87.5K

You might also read

Related Articles

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

Sort by
Same author

Key outcomes from a stakeholder workshop on genomic newborn screening: recommended next steps for the integration of genomics into public health programs.

Public health genomics·2026
Same author

From evidence to implementation: key priorities for pharmacogenomics-guided treatment and prevention from a European expert workshop.

European journal of human genetics : EJHG·2026
Same author

Towards responsible genome-wide screening: normative and stakeholder considerations.

European journal of human genetics : EJHG·2026
Same author

Dedicated First-Trimester Anomaly Scan in a National Prenatal Screening Program and Timing of Diagnosis: The Prospective IMITAS Cohort Study.

BJOG : an international journal of obstetrics and gynaecology·2026
Same author

Preferences of Pregnant Women and Healthcare Professionals on First-Trimester Ultrasound Screening for Fetal Anomalies: A Discrete Choice Experiment.

Prenatal diagnosis·2026
Same author

Public and parent perspectives on genomic sequencing in newborn screening: a scoping review.

European journal of human genetics : EJHG·2026

Related Experiment Video

Updated: Apr 25, 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

2.1K

A Multi-Stakeholder Perspective on Integrating Genomic Sequencing into Newborn Screening: An Interview Study.

Saskia G Smits1,2, Suzanne M Onstwedder1,2, Tessel Rigter2

  • 1Centre for Health Protection, National Institute for Public Health and the Environment (RIVM), 3721 MA Bilthoven, The Netherlands.

International Journal of Neonatal Screening
|April 24, 2026
PubMed
Summary

Genomic sequencing in newborn screening (NBS) offers benefits like broader condition detection but faces challenges in interpretation, cost, and parental anxiety. Stakeholders see a future role, emphasizing careful implementation to maintain participation and program quality.

Keywords:
genomic sequencinginterviewsneonatalnewborn screeningstakeholder perspectives

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K
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

36.1K

Related Experiment Videos

Last Updated: Apr 25, 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

2.1K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

7.9K
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

36.1K

Area of Science:

  • Genomics
  • Public Health
  • Bioethics

Background:

  • Genomic sequencing is being considered for integration into existing newborn screening (NBS) programs.
  • This raises discussions about its potential benefits and challenges within current healthcare frameworks.

Purpose of the Study:

  • To explore multi-stakeholder perspectives on incorporating genomic sequencing into newborn screening (NBS).
  • To identify opportunities and challenges associated with this integration in the Netherlands.

Main Methods:

  • Qualitative study utilizing semi-structured interviews.
  • 26 professionals involved in NBS or clinical genome sequencing were interviewed.

Main Results:

  • Opportunities include a single test for multiple genetic conditions, reduced diagnostic odyssey, expanded NBS scope, and improved efficiency.
  • Challenges involve genetic variant interpretation, parental anxiety, data privacy, information provision difficulties, and high costs.
  • Key tensions identified in screening strategy, performance, and stakeholder roles and responsibilities.

Conclusions:

  • Genomic sequencing is acknowledged to have a future role in NBS, though not currently as a first-tier test.
  • Implementation must not compromise current NBS participation rates.
  • Enhancing stakeholder knowledge, communication, and collaboration is crucial for future decision-making, balancing benefits and harms.