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

Next-generation Sequencing03:00

Next-generation Sequencing

87.9K
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....
87.9K
Sanger Sequencing01:57

Sanger Sequencing

800.8K
DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
800.8K
Genomics02:02

Genomics

35.5K
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...
35.5K
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
RNA-seq03:21

RNA-seq

9.4K
RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
Before the discovery of RNA-seq, microarray-based methods and Sanger sequencing were used for transcriptome analysis. However, while...
9.4K

You might also read

Related Articles

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

Sort by
Same author

Harmonization of Health Data Governance, Oversight, and Policy: Reimagining Stewardship.

Healthcare management forum·2026
Same author

Moral Attitudes on Somatic Gene Editing for Inherited Cardiomyopathy: A Qualitative Interview Study with Key Stakeholders in the Netherlands.

Journal of bioethical inquiry·2026
Same author

Contribution of Risk Factors, Including Polygenic Score, to the Multifactorial Risk Assessment for the Implementation of Personalized Breast Cancer Screening: Insights from the PERSPECTIVE: Integration and Implementation Project.

Cancers·2026
Same author

Genomic newborn screening: a scoping review of the field's evolution and associated ethical, legal, and social implications.

European journal of human genetics : EJHG·2026
Same author

Genomic newborn screening: data retention for research and clinical reuse.

European journal of human genetics : EJHG·2026
Same author

Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.

Journal of community genetics·2026
Same journal

Erratum for the Research Article "Guanosine diphosphate-mannose suppresses homologous recombination repair and potentiates antitumor immunity in triple-negative breast cancer".

Science translational medicine·2026
Same journal

CAR T cell therapy selectively depletes disease-driving mutant calreticulin cells in xenotransplants and human organoid models of myelofibrosis.

Science translational medicine·2026
Same journal

Bioresponsive microneedle stent provides anastomosis and postoperative adjuvant therapy in preclinical resectable intestinal diseases.

Science translational medicine·2026
Same journal

Alzheimer's disease proteome-wide association study implicates adaptive immunity and identifies risk genes LILRB1 and SIRPA.

Science translational medicine·2026
Same journal

KSHV-infected endothelial cells expand and up-regulate angiogenic pathways and CXCR4 in patient-derived Kaposi sarcoma models.

Science translational medicine·2026
Same journal

Hypoxia-driven T cell-macrophage-stromal cross-talk sustains fibrosis in preclinical models of cutaneous chronic graft-versus-host disease.

Science translational medicine·2026
See all related articles

Related Experiment Video

Updated: May 1, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

8.8K

Whole-genome sequencing in newborn screening programs.

Bartha M Knoppers1, Karine Sénécal, Pascal Borry

  • 1Department of Human Genetics, McGill University, Montreal, Quebec H3A OG1, Canada.

Science Translational Medicine
|March 28, 2014
PubMed
Summary
This summary is machine-generated.

Whole-genome sequencing (WGS) may transform newborn screening (NBS). This commentary discusses the ethical, legal, and social implications of WGS in NBS, emphasizing careful policy deliberation for the child's best interest.

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K
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

2.1K

Related Experiment Videos

Last Updated: May 1, 2026

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
09:03

Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

Published on: August 25, 2019

8.8K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.2K
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

2.1K

Area of Science:

  • Genomics
  • Public Health
  • Bioethics

Background:

  • Newborn screening (NBS) programs are crucial for early detection of genetic disorders.
  • Advances in whole-genome sequencing (WGS) technology offer unprecedented insights into an individual's genetic makeup.
  • The integration of WGS into population-level screening presents both opportunities and challenges.

Purpose of the Study:

  • To explore the ethical, legal, and social issues (ELSI) associated with implementing whole-genome sequencing in newborn screening programs.
  • To highlight the need for policy discussions and careful consideration before adopting WGS for NBS.
  • To emphasize that any modifications to NBS goals must prioritize the child's well-being.

Main Methods:

  • This is a commentary, not an empirical study.
  • It involves a critical review and discussion of existing literature and ethical frameworks.
  • Expert opinion and ethical analysis are employed.

Main Results:

  • The widespread availability of WGS necessitates a re-evaluation of current NBS practices.
  • Significant ethical, legal, and social challenges arise from using WGS in NBS, including issues of consent, data privacy, and potential for discrimination.
  • A robust policy framework and public deliberation are required to address these challenges.

Conclusions:

  • The introduction of WGS into NBS programs requires careful ethical and policy deliberation.
  • Decisions regarding NBS expansion must be guided by the principle of acting in the best interest of the child.
  • Proactive engagement with ELSI concerns is essential for responsible innovation in genomic medicine and public health.