ArticleGenetics in medicine open2026
Implications and ramifications of using the CDC tier 1 genetic screening concept in East Asian populations.
Article in Genetics in medicine open, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: The US Centers for Disease Control and Prevention defined the Centers for Disease Control and Prevention Tier 1 (CDCT1) genomics applications, advocating mass screening for 3 hereditary conditions with significant public health impacts. On this premise, we investigated how genome sequencing (GS) and ethnic differences affect genetic screening in East Asia. Additionally, we incorporated 2 specific genes, Methods: We analyzed GS data from 1454 participants in the Taiwan Biobank (TWB) and 2473 participants from the National Health Research Institute (NHRI). SnpEff, ClinVar, and VarSome were used to identify and annotate pathogenic and likely pathogenic (P/LP) variants in the target genes. Results: The heterozygote frequencies for P/LP variants in the CDCT1 genes were 2.34% and 1.74% for the TWB and NHRI cohorts, respectively. These heterozygote frequencies were higher than those of the Healthy Nevada Project (1.33%). Familial hypercholesterolemia (MIM: 143890, 144010) accounts for more than 60% of the cases. Individuals (43%) who carried P/LP variants were unaware of their hypercholesterolemia status. Compared with the European and African populations, 7 variants were significantly more frequent in the Taiwanese population ( Conclusion: This Asian study underscores the implications of CDCT1 screening and the significance of including population-specific variants. Using a GS approach allows for broader detection of actionable diseases, advancing population-based preventive medicine.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.