Jove
Visualize
Contact Us

Related Experiment Videos

Diagnosis and the new genetics

F K Fujimura1

  • 1Myriad Diagnostic Services Inc, Salt Lake City.

Current Opinion in Biotechnology
|December 1, 1994
PubMed
Summary
This summary is machine-generated.

Advances in gene discovery enable new molecular genetic diagnostic tests for diseases like Huntington's, colon cancer, and Alzheimer's. This expands genetic analysis but raises concerns about potential misuse of genetic information.

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

Detection of mutations by single-strand conformation polymorphism (SSCP) analysis and SSCP-hybrid methods.

Current protocols in human genetics·2008
Same author

Scanning by DOVAM-S detects all unique sequence changes in blinded analyses: evidence that the scanning conditions are generic.

BioTechniques·2000
Same author

Detection of virtually all mutations-SSCP (DOVAM-S): a rapid method for mutation scanning with virtually 100% sensitivity.

BioTechniques·1999
Same author

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines.

Oncogene·1995
Same author

CDKN2 (MTS1) tumor suppressor gene mutations in human tumor cell lines.

Oncogene·1995
Same author

Polymerase chain reaction facilitates archival autopsy studies of sickle cell disease.

Pediatric pathology·1993
Same journal

Unlocking the biotechnological potential of traditional fermented food microbiomes.

Current opinion in biotechnology·2026
Same journal

Upcycling food processing byproducts via advanced yeast fermentation.

Current opinion in biotechnology·2026
Same journal

Microbial C1 assimilation pathways for chemical synthesis: from native metabolism to synthetic design.

Current opinion in biotechnology·2026
Same journal

Medicinal plants fermentation: current knowledge and perspectives.

Current opinion in biotechnology·2026
Same journal

Fermented foods: lessons learned from metagenomics.

Current opinion in biotechnology·2026
Same journal

Microfluidic platforms for the transient transfection of mammalian cells: recent developments and challenges.

Current opinion in biotechnology·2026
See all related articles
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

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Gene discovery has accelerated, creating new diagnostic opportunities.
  • Previous discoveries include genes for cystic fibrosis, Duchenne muscular dystrophy, and fragile X syndrome.
  • Recent findings include genes for Huntington's disease, familial colon cancers, and risk indicators for Alzheimer's, hypertension, and coronary heart disease.

Purpose of the Study:

  • To highlight the impact of rapid gene discovery on clinical genetic analysis.
  • To discuss the expansion of genetic testing capabilities.
  • To address concerns regarding the ethical implications of molecular genetic technologies.

Main Methods:

  • Review of recent gene discovery achievements.
  • Analysis of the application of molecular genetic technologies in diagnostics.

Related Experiment Videos

  • Discussion of ethical considerations in genetic testing.

    • Main Results:

    • Significant expansion in the capacity for genetic analysis.
    • Development of enhanced and novel diagnostic testing approaches.
    • Identification of potential genetic risk indicators for major diseases.

    Conclusions:

    • Molecular genetic technologies offer substantial benefits for clinical diagnosis.
    • Concerns exist regarding the potential misuse of genetic tests and information.
    • Ethical considerations are crucial, especially for presymptomatic diagnosis and population screening.