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

The challenge of validating genetic testing.

U Kristoffersson1

  • 1Department of Clinical Genetics, University Hospital, Lund, Sweden.

Community Genetics
|March 7, 2002
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

Targeted sequencing of BRCA1 and BRCA2 across a large unselected breast cancer cohort suggests that one-third of mutations are somatic.

Annals of oncology : official journal of the European Society for Medical Oncology·2016
Same author

Familial aggregation of stroke amongst young patients in Lund Stroke Register.

European journal of neurology·2015
Same author

Health needs assessment for medical genetic services for congenital disorders in middle- and low-income nations.

Journal of community genetics·2013
Same author

Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?

European journal of neurology·2013
Same author

Association of PHB 1630 C>T and MTHFR 677 C>T polymorphisms with breast and ovarian cancer risk in BRCA1/2 mutation carriers: results from a multicenter study.

British journal of cancer·2012
Same author

Genetic screening in Europe.

Public health genomics·2010
Same journal

Does offering prenatal screening influence pregnant women's attitudes regarding prenatal testing?

Community genetics·2008
Same journal

Costs and effects of prenatal screening methods for Down syndrome and neural tube defects.

Community genetics·2008
Same journal

Family physicians' beliefs about genetic contributions to racial/ethnic and gender differences in health and clinical decision-making.

Community genetics·2008
Same journal

Healthy choices through family history: a community approach to family history awareness.

Community genetics·2008
Same journal

Population estimates of extended family structure and size.

Community genetics·2008
Same journal

A community genetics perspective on consanguineous marriage.

Community genetics·2008
See all related articles

Genetic testing validation is a complex, ongoing process involving multiple experts and the public. It requires standards for lab work, counseling, and a legal framework for societal integration.

Area of Science:

  • Medical Genetics
  • Bioethics
  • Health Policy

Background:

  • Genetic testing validation is a complex, multidisciplinary endeavor.
  • Numerous unresolved issues persist within the genetic testing validation process.
  • Current validation often overlooks crucial aspects beyond laboratory procedures.

Purpose of the Study:

  • To highlight the multifaceted nature of genetic testing validation.
  • To emphasize the need for a holistic approach encompassing service delivery and counseling.
  • To identify challenges and propose future directions for genetic testing validation.

Main Methods:

  • Discussion of validation encompassing laboratory processes, service delivery prerequisites (education, staffing, data management), and genetic counseling.
Keywords:
Genetics and Reproduction

Related Experiment Videos

  • Consideration of cost-effectiveness in validation.
  • Analysis of validation as an ongoing process at laboratory, familial, and societal levels.
  • Main Results:

    • Validation requires a broad scope, including pre- and post-test genetic counseling and data management.
    • Effective validation involves diverse stakeholders: medical geneticists, other specialists, legislative bodies, and the public.
    • Cost-effectiveness is a critical consideration in the validation process.

    Conclusions:

    • Genetic testing validation is an evolving, multidisciplinary process requiring continuous development of technical and legal standards.
    • Collaboration among professionals, the public, and authorities is essential for defining a legal framework.
    • Future efforts must address both technical standards and the broader societal and legal implications of genetic testing.