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 Experiment Videos

Standards and controls for genetic testing.

Emily S Winn-Deen1

  • 1Business Development, Cepheid, 904 Caribbean Drive, Sunnyvale, CA 94089, USA. Emily.Winn-Deen@roche.com

Cancer Biomarkers : Section a of Disease Markers
|December 29, 2006
PubMed
Summary
This summary is machine-generated.

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

Extracellular vesicle and particle-based blood test for ovarian cancer screening of average risk population: a promising nested case control study using preclinical samples.

Gynecologic oncology·2025
Same author

Improving Specificity for Ovarian Cancer Screening Using a Novel Extracellular Vesicle-Based Blood Test: Performance in a Training and Verification Cohort.

The Journal of molecular diagnostics : JMD·2024
Same author

Colocalization of Cancer-Associated Biomarkers on Single Extracellular Vesicles for Early Detection of Cancer.

The Journal of molecular diagnostics : JMD·2024
Same author

Development of an integrated assay for detection of BCR-ABL RNA.

Clinical chemistry·2007
Same author

Developing a sustainable process to provide quality control materials for genetic testing.

Genetics in medicine : official journal of the American College of Medical Genetics·2005
Same author

A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set.

American journal of human genetics·2003
Same journal

A causal association between Epstein-Barr virus infection and lung cancer: A two-sample Mendelian Randomization study.

Cancer biomarkers : section A of Disease markers·2026
Same journal

In silico analysis suggests ELL2 as a survival-associated cross-tissue biomarker in gastric cancer.

Cancer biomarkers : section A of Disease markers·2026
Same journal

The clinical assessment of miR-34a and miR-135b panel as promising diagnostic biomarkers predict the risk of colorectal cancer: A case-control study.

Cancer biomarkers : section A of Disease markers·2026
Same journal

Integrative multi-omics analysis-based Mendelian randomization identifies association of DNA repair-related genes with oral cancer.

Cancer biomarkers : section A of Disease markers·2026
Same journal

Stage-specific biomarkers in triple-negative breast cancer: Preliminary findings from bioinformatics approaches.

Cancer biomarkers : section A of Disease markers·2026
Same journal

Development and verification of cell cycle-related gene markers for prognosis in bladder cancer.

Cancer biomarkers : section A of Disease markers·2026
See all related articles

Most genetic tests are developed in-house, with few FDA-approved in vitro diagnostic (IVD) kits available. The laboratory community leads in genetic test standardization, with increasing IVD kit approvals expected as genetic testing becomes mainstream.

Area of Science:

  • Clinical diagnostics
  • Molecular genetics
  • Regulatory affairs

Background:

  • The majority of genetic tests currently performed are laboratory-developed tests (LDTs) or utilize analyte-specific reagents (ASRs).
  • Limited FDA-approved in vitro diagnostic (IVD) kits exist for genetic analysis, primarily for thrombophilia risk, CYP450 polymorphisms, and cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations.

Purpose of the Study:

  • To review the current landscape of genetic testing methodologies.
  • To discuss the role of regulatory approval and standardization in genetic diagnostics.
  • To anticipate future trends in IVD kit development and the involvement of the manufacturing community.

Main Methods:

  • Review of existing FDA-approved genetic IVD kits.
  • Analysis of the current state of genetic test development and standardization.

Related Experiment Videos

  • Discussion of proficiency testing availability and alternative methods.

    • Main Results:

    • A small number of FDA-approved genetic IVD kits are available for specific genetic markers.
    • The laboratory community has pioneered the development of standards and controls for genetic tests.
    • Commercially available proficiency testing is limited to common genetic tests, necessitating alternative approaches like sample swapping for others.

    Conclusions:

    • The development of genetic testing is shifting towards greater regulatory oversight with increasing IVD kit approvals.
    • The IVD manufacturing sector is expected to play a more significant role in providing control materials for genetic assays.
    • Standardization and quality control remain critical challenges as genetic testing becomes more integrated into mainstream clinical practice.