Back to Search
Start Over
Expanded universal carrier screening and its implementation within a publicly funded healthcare service
- Source :
- Journal of Community Genetics
- Publication Year :
- 2019
- Publisher :
- Springer Science and Business Media LLC, 2019.
-
Abstract
- Carrier screening, a well-established clinical initiative, has been slow to take advantage of the new possibilities offered by high-throughput next generation sequencing technologies. There is evidence of significant benefit in expanding carrier screening to include multiple autosomal recessive conditions and offering a ‘universal’ carrier screen that could be used for a pan-ethnic population. However, the challenges of implementing such a programme and the difficulties of demonstrating efficacy worthy of public health investment are significant barriers. In order for such a programme to be successful, it would need to be applicable and acceptable to the population, which may be ethnically and culturally diverse. There are significant practical and ethical implications associated with determining which variants, genes and conditions to include whilst maintaining adequate sensitivity and accuracy. Although preconception screening would maximise the potential benefits from universal carrier screening, the resource implications of different modes of delivery need to be carefully evaluated and balanced against maximising reproductive autonomy and ensuring equity of access. Currently, although a number of existing initiatives are increasing access to carrier screening, there is insufficient evidence to inform the development of a publicly funded, expanded, universal carrier screening programme that would justify investment over other healthcare interventions.
- Subjects :
- 0301 basic medicine
medicine.medical_specialty
Epidemiology
Population
Psychological intervention
Review
030105 genetics & heredity
Genome sequencing
03 medical and health sciences
Resource (project management)
Expanded
Cultural diversity
Health care
medicine
education
Genetics (clinical)
Preventive healthcare
education.field_of_study
business.industry
Public Health, Environmental and Occupational Health
Equity (finance)
Investment (macroeconomics)
030104 developmental biology
Risk analysis (engineering)
Carrier screening
business
Universal
Subjects
Details
- ISSN :
- 18686001 and 1868310X
- Volume :
- 11
- Database :
- OpenAIRE
- Journal :
- Journal of Community Genetics
- Accession number :
- edsair.doi.dedup.....e6456290679dd3fa86d0f9300e17cccb