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

Different Viewpoints: International Perspectives on Newborn Screening.

Rodney J Pollitt1

  • 1Clinical Chemistry and Newborn Screening, The Children's Hospital, Sheffield, United Kingdom.

Journal of Medical Biochemistry
|March 31, 2017
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

Evidence or enthusiasm? Why yields from UK newborn screening programmes for congenital hypothyroidism are increasing.

Archives of disease in childhood·2015
Same author

Cost effectiveness of establishing a neonatal screening programme for phenylketonuria in Libya.

Applied health economics and health policy·2010
Same author

Newborn screening-progress and challenges.

Journal of inherited metabolic disease·2010
Same author

New technologies extend the scope of newborn blood-spot screening, but old problems remain unresolved.

Acta paediatrica (Oslo, Norway : 1992)·2010
Same author

Newborn screening for congenital hypothyroidism: improved assay performance has created an evidence gap.

Journal of inherited metabolic disease·2010
Same author

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Gastroenterology·2010

Newborn blood-spot screening practices vary globally due to differing legislation and healthcare integration. Key policy issues remain unresolved regarding informed consent, DNA analysis, and sample disposal as screening technology advances.

Area of Science:

  • Medical Genetics
  • Public Health Policy
  • Biochemistry

Background:

  • Newborn blood-spot screening is a global public health initiative to detect treatable genetic disorders.
  • Significant international variations exist in screening protocols, including disorders screened, technology, consent, and specimen management.

Purpose of the Study:

  • To highlight the heterogeneity in global newborn screening practices.
  • To identify key policy challenges arising from technological advancements and evolving screening scopes.

Main Methods:

  • Comparative analysis of international newborn blood-spot screening guidelines and practices.
  • Review of existing legislation and healthcare system integration models.
  • Examination of the application of Wilson and Jungner criteria in practice.
Keywords:
carrier detectionconsent to testingcystic fibrosismedium chain acyl-CoA dehydrogenase deficiencynewborn screening

Related Experiment Videos

Main Results:

  • Wide disparities observed in the number of disorders screened, even among countries with similar economic development.
  • Lack of consensus on crucial aspects such as parental informed consent, use of DNA mutation analysis, and residual specimen handling.
  • Screening practices are influenced by legislative frameworks versus executive management within healthcare systems.

Conclusions:

  • Standardized guidelines are needed to address policy gaps in newborn blood-spot screening.
  • Future policy development must consider ethical implications and technological advancements, including genomic screening.
  • Harmonizing practices is essential for equitable and effective newborn screening programs worldwide.