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

Genome Copying Errors02:46

Genome Copying Errors

5.4K
DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
5.4K
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

89
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
89
Genetic Screens02:46

Genetic Screens

5.9K
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...
5.9K
What is Genetic Engineering?00:49

What is Genetic Engineering?

81.2K
Overview
81.2K
Mutations01:39

Mutations

96.2K
Overview
96.2K
Karyotyping01:17

Karyotyping

69.9K
Overview
69.9K

You might also read

Related Articles

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

Sort by
Same author

Muscle Ageing and Sarcopenia Study (MASS) Lifecourse: a valuable resource for understanding skeletal muscle ageing.

GeroScience·2026
Same author

Molnupiravir Treatment Associated With Clearance of Cache Valley Virus From Cerebrospinal Fluid in an Immunocompromised Child With Meningoencephalitis.

Open forum infectious diseases·2026
Same author

Interventions to prevent and treat multiple long-term conditions and their consequences across the life course: concepts and definitions.

BMC medicine·2026
Same author

Preliminary evidence for cognitive associations of postural control in older and younger adults, and people with Parkinson's disease.

Parkinsonism & related disorders·2026
Same author

Mental health challenges in the Irish thoroughbred horse breeding industry: Prevalence and associated risk factors.

Acta psychologica·2026
Same author

Correspondence on "Patterns of X-linked inheritance: A new approach for the genome era" by Basava et al.

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

Present and Emerging Strategies for Disease Assessment in Hodgkin Lymphoma.

Cancer journal (Sudbury, Mass.)·2026
Same journal

Nodular Lymphocyte-predominant Hodgkin Lymphoma: Incidence, Pathogenesis, Management.

Cancer journal (Sudbury, Mass.)·2026
Same journal

Management of Classic Hodgkin Lymphoma in Special Clinical Situations.

Cancer journal (Sudbury, Mass.)·2026
Same journal

Older Patients With Hodgkin Lymphoma: A Contemporary Review.

Cancer journal (Sudbury, Mass.)·2026
Same journal

Adolescent and Young Adult Patients With Classical Hodgkin Lymphoma: A Review as a Case Study in AYA Cancer Care.

Cancer journal (Sudbury, Mass.)·2026
Same journal

Hodgkin Lymphoma: Management of Patients Who Fail Primary Therapy.

Cancer journal (Sudbury, Mass.)·2026
See all related articles

Related Experiment Video

Updated: Mar 27, 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

3.6K

Challenges and Errors in Genetic Testing: The Sixth Case Series.

Meagan Farmer1, Claire McDonald2, Darcy K Berry3

  • 1LCGC, Ambry Genetics.

Cancer Journal (Sudbury, Mass.)
|March 25, 2026
PubMed
Summary
This summary is machine-generated.

Genetic testing integration faces challenges in communication, interpretation, and coordination. Addressing these requires collaboration and structured workflows for accurate genomic medicine application.

Keywords:
Genetic testingdiagnostic errorsdigital healthgenetic counselinggenomicshealth information technologyhereditary neoplastic syndromesinterprofessional relationspatient safetyprecision medicine

More Related Videos

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
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

38.0K

Related Experiment Videos

Last Updated: Mar 27, 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

3.6K
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
FISH for Pre-implantation Genetic Diagnosis
07:34

FISH for Pre-implantation Genetic Diagnosis

Published on: February 23, 2011

38.0K

Area of Science:

  • Genomic Medicine
  • Clinical Genetics
  • Healthcare Systems

Background:

  • Genetic testing is increasingly routine across various medical specialties.
  • Emerging complexities and errors pose challenges in clinical practice.
  • The expanding scope of genetic testing necessitates careful integration.

Purpose of the Study:

  • To explore ongoing and emerging challenges in genetic testing.
  • To identify errors and complexities in routine genetic testing.
  • To analyze issues encountered in diverse clinical settings.

Main Methods:

  • Case series design.
  • Solicitation of cases from clinicians across specialties (2021-2025).
  • Thematic analysis of 15 deidentified cases.

Main Results:

  • Identified gaps in communication, coordination, and interpretation of genetic test results.
  • Observed missed counseling opportunities, variant interpretation complexities, and system failures.
  • Highlighted risks of testing without clear indications and delays in diagnosis.

Conclusions:

  • Responsible integration of genetic testing into mainstream practice is crucial.
  • Effective digital tools, structured workflows, and interprofessional collaboration are essential.
  • Shared responsibility and the central role of genetic counselors are key for quality and efficiency.