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

Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation

M F Wildhagen1, T A van Os, J J Polder

  • 1Department of Public Health, Erasmus University, Rotterdam, The Netherlands. wildhagen@mgz.fgg.eur.nl

Community Genetics
|June 5, 2004
PubMed
Summary

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

TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.

Familial cancer·2019
Same author

[Costs and benefits of smoking].

Nederlands tijdschrift voor geneeskunde·2017
Same author

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome.

BMC medical genetics·2015
Same author

Cardiovascular diseases in grandparents and the risk of congenital heart diseases in grandchildren.

Journal of developmental origins of health and disease·2014
Same author

Decision analysis in the clinical neurosciences: a systematic review of the literature.

European journal of neurology·2013
Same author

Monitoring of risk factor/outcome combinations: a valuable supplement to birth defect monitoring.

The International journal of risk & safety in medicine·2013

Screening for fragile X carriers, including prenatal, preconceptional, and school-based approaches, is economically viable. All strategies demonstrate cost savings, making them feasible options for implementation.

Area of Science:

  • Genetics
  • Public Health
  • Health Economics

Background:

  • Fragile X syndrome is a leading inherited cause of intellectual disability.
  • Carrier screening for fragile X premutation and full mutation is crucial for genetic counseling and reproductive planning.

Purpose of the Study:

  • To evaluate the economic implications of three distinct carrier screening strategies for fragile X in the general population.
  • To compare the costs, effects, and savings associated with prenatal, preconceptional, and school-based screening programs.

Main Methods:

  • A generalized economic model was employed to assess screening strategies.
  • Data were derived from literature, expert opinions, and current pricing structures.

Main Results:

Related Experiment Videos

  • Prenatal screening identifies the majority of carriers and maximizes the prevention of fragile X syndrome.
  • The cost per detected carrier is consistent across all programs, approximately $45,000.
  • All screening strategies yield a positive cost-savings balance, with prenatal screening showing the highest return ($14 million).

Conclusions:

  • Economically, there are no barriers to implementing fragile X carrier screening.
  • The decision to implement screening should prioritize medical, social, psychological, and ethical considerations over financial concerns.