ArticleGenetics in medicine : official journal of the American College of Medical Genetics2021
A state-based approach to genomics for rare disease and population screening.
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 26 papers.
What it found
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The trial behind it
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Who cites it
26 citing papers in PubMed, 40 citations in OpenAlex.
- Precision Medicine in Rural Settings: Patient Perspectives on Clinician-Ordered Genetic Testing.Research square · 2026Article
- Article
- Feasibility and outcomes of the DNA Screen nationwide adult genomic screening pilot.Nature health · 2026Article
- Comparison of machine learning models for mucopolysaccharidosis early diagnosis using UAE medical records.Scientific reports · 2025Article
- Proceedings from the 2023 transdisciplinary conference for future leaders in precision public health "Applying Implementation Science to Precision Public Health".BMC proceedings · 2025Article
- Opportunistic genomic screening has clinical utility: An interventional cohort study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Age-Based Genomic Screening: Pediatric Providers' Perspectives on Implementation.Public health genomics · 2025Article
- Women's preferences for genetic screening in routine care: A qualitative study.Patient education and counseling · 2025Article
- Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system.Frontiers in molecular biosciences · 2025Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.Genome research · 2024Article
- Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.medRxiv : the preprint server for health sciences · 2024Article
- Using implementation science to evaluate a population-wide genomic screening program: Findings from the first 20,000 In Our DNA SC participants.American journal of human genetics · 2024Article
- Workplace genetic testing: which employees are likely to participate, what are their concerns with employer sponsorship, and which design features could reduce barriers and increase participation?Frontiers in genetics · 2024Article
- Applying health equity implementation science frameworks to population genetic screening.Frontiers in health services · 2024Article
- Does genetic testing offer utility as a supplement to traditional family health history intake for inherited disease risk?Family practice · 2023Article
- Medical and psychosocial outcomes of state-funded population genomic screening.Clinical genetics · 2023Article
- Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.American journal of human genetics · 2023Article
- Diagnostic yield of genetic screening in a diverse, community-ascertained cohort.Genome medicine · 2023Article
- Workforce Considerations When Building a Precision Medicine Program.Journal of personalized medicine · 2022Article
- Developing CIRdb as a catalog of natural genetic variation in the Canary Islanders.Scientific reports · 2022Article
Corrections and comments
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Authors and funding
22 authors at 4 institutions in 1 country.
Funding
Abstract
purposeThe Alabama Genomic Health Initiative (AGHI) is a state-funded effort to provide genomic testing. AGHI engages two distinct cohorts across the state of Alabama. One cohort includes children and adults with undiagnosed rare disease; a second includes an unselected adult population. Here we describe findings from the first 176 rare disease and 5369 population cohort AGHI participants.
methodsAGHI participants enroll in one of two arms of a research protocol that provides access to genomic testing results and biobank participation. Rare disease cohort participants receive genome sequencing to identify primary and secondary findings. Population cohort participants receive genotyping to identify pathogenic and likely pathogenic variants for actionable conditions.
resultsWithin the rare disease cohort, genome sequencing identified likely pathogenic or pathogenic variation in 20% of affected individuals. Within the population cohort, 1.5% of individuals received a positive genotyping result. The rate of genotyping results corroborated by reported personal or family history varied by gene.
conclusionsAGHI demonstrates the ability to provide useful health information in two contexts: rare undiagnosed disease and population screening. This utility should motivate continued exploration of ways in which emerging genomic technologies might benefit broad populations.
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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.