ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed.
- Functional Profiling ofCirculation. Genomic and precision medicine · 2025Article
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv : the preprint server for biology · 2023Article
- Development of a clinical polygenic risk score assay and reporting workflow.Nature medicine · 2022Article
- Establishing analytical validity of BeadChip array genotype data by comparison to whole-genome sequence and standard benchmark datasets.BMC medical genomics · 2022Article
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization.American journal of human genetics · 2021Article
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Authors and funding
15 authors.
Funding
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Abstract
purposeTo evaluate the effectiveness and specificity of population-based genomic screening in Alabama.
methodsThe Alabama Genomic Health Initiative (AGHI) has enrolled and evaluated 5369 participants for the presence of pathogenic/likely pathogenic (P/LP) variants using the Illumina Global Screening Array (GSA), with validation of all P/LP variants via Sanger sequencing in a CLIA-certified laboratory before return of results.
resultsAmong 131 variants identified by the GSA that were evaluated by Sanger sequencing, 67 (51%) were false positives (FP). For 39 of the 67 FP variants, a benign/likely benign variant was present at or near the targeted P/LP variant. Variants detected within African American individuals were significantly enriched for FPs, likely due to a higher rate of nontargeted alternative alleles close to array-targeted P/LP variants.
conclusionIn AGHI, we have implemented an array-based process to screen for highly penetrant genetic variants in actionable disease genes. We demonstrate the need for clinical validation of array-identified variants in direct-to-consumer or population testing, especially for diverse populations.
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