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Carrier screening seeks to identify couples at risk of pregnanting children with a recessive disorder. Based on both theoretical research and empirical evidence, this scoping report sought to map EUCS' potential societal benefits. We searched for relevant articles, including articles describing carrier screening for at-risk populations among at-risk populations based on five chosen query journals, to achieve this goal. Unwanted medicalization, stigmatization, and discrimination of carriers and individuals affected by the conditions were tested and barriers to ensuring equal access were among the potential social implications. Potential positive results include the reduction of ethnic stigmatization in ancestry-based services and greater equity within these themes. Empirical studies in EUCS pilots is required to determine which cultural implications are likely to arise and thus should be overcome when implementing EUCS.
Source link: https://doi.org/10.1038/s41431-022-01178-8
Informing couples about their reproductive risk, next generation sequencing can reveal carrier status for rare recessive disorders. The new ACMG recommendations recommends supporting NGS-based carrier screening in an ethnic and population-neutral way for all genes with a carrier frequency > 1/200. We analyzed 118 ciliopathy genes in 400 healthy local people and 1000 people from the UK1958-birth cohort. We found 20% of healthy people to be carriers of recognized variants of a ciliopathy gene in a healthy manner, while 50% have variants of uncertain significance. For functional assays, we'll show how gene-specific variation patterns and structural protein information can help prioritize variants most likely to be disease-causing. Even when considering only pathogenic variants, the observed carrier frequency is considerably higher than expected based on estimated disease prevalence, putting the 1/200 carrier frequency cut-off recommended for choosing genes to screen.
Source link: https://doi.org/10.1038/s41431-022-01267-8
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