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

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

Identification of Multiple Sulfatase Deficiency (MSD) in newborn screening: A case study.

Molecular genetics and metabolism reports·2026
Same author

Laboratory considerations for GRCh37 to GRCh38 reference genome transition: A laboratory quality assurance bulletin of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine open·2025
Same author

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2024
Same author

Next-Generation Sequencing Somatic and Germline Assay Troubleshooting Guide Derived From Proficiency Testing Data.

Archives of pathology & laboratory medicine·2021
Same author

Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Genetics in medicine : official journal of the American College of Medical Genetics·2021

Related Experiment Video

Updated: Mar 21, 2026

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

26.6K

Regulating whole exome sequencing as a diagnostic test.

Valentina Lapin1,2, Lindsey C Mighion2, Cristina P da Silva2

  • 1Department of Human Genetics, Emory University School of Medicine, Atlanta, GA, USA.

Human Genetics
|May 12, 2016
PubMed
Summary

Next-generation sequencing (NGS) has expanded genetic diagnostic testing, with whole exome sequencing (WES) now a clinical option. Oversight is needed, balancing rigor with the administrative burden on laboratories.

Keywords:
CAPCLIAFDALaboratory developed testsNGSRegulatory guidelines

More Related Videos

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

35.0K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Related Experiment Videos

Last Updated: Mar 21, 2026

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

26.6K
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

35.0K
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

11.5K

Area of Science:

  • Genomics
  • Clinical Diagnostics
  • Bioethics

Background:

  • The rapid advancement of next-generation sequencing (NGS) technologies has dramatically increased the availability of genetic diagnostic testing.
  • Whole exome sequencing (WES) is now a widely accessible diagnostic test offered by certified clinical laboratories, leading to greater market presence and consumer awareness.

Purpose of the Study:

  • To evaluate the current regulatory landscape for WES and other NGS-based diagnostic tests.
  • To discuss proposed regulatory involvement by the Food and Drug Administration (FDA) and the responses from laboratory groups.

Main Methods:

  • Review of current WES services in the diagnostic marketplace.
  • Analysis of existing regulations for WES as a laboratory-developed test (LDT).
  • Examination of stakeholder discussions regarding WES regulation and FDA oversight.

Main Results:

  • Increased availability of WES has prompted questions about the stringency of its regulation.
  • Various laboratory groups have responded to proposed FDA oversight.
  • A need for rigorous process oversight and inter-laboratory reproducibility assessment for WES is identified.

Conclusions:

  • While robust oversight and reproducibility assessments are crucial for WES as a diagnostic tool, regulatory approaches must consider the potential administrative burden on academic and smaller diagnostic laboratories.
  • Balancing regulatory rigor with practical considerations for diverse laboratory settings is essential for the responsible advancement of genetic diagnostics.