AI Article Synopsis
- The advancement of high-throughput sequencing technology and lowering costs allow for large-scale genetic disease screening, targeting birth defects.
- Effective screening is anticipated to decrease the incidence of birth defects, alleviating the impact of genetic diseases on families and society.
- The article uses Down syndrome to illustrate the importance of evaluating cost-benefit ratios and socio-economic factors in the planning of genetic disease screening programs.
Article Abstract
The ongoing development of high-throughput sequencing technology and continuous decline of sequencing cost have made it possible to carry out large-scale screening for genetic diseases, which are the main component of birth defects. The screening of genetic diseases is expected to significantly reduce the rate of birth defects and the burden of genetic diseases to the affected families and the society. Taking Down syndrome as an example, through the analysis of the cost-benefit ratio of relevant screening programs, this article has summarized the socio-economic indicators to be considered during the design and development of genetic disease screening.
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| http://dx.doi.org/10.3760/cma.j.cn511374-20220424-00275 | DOI Listing |
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