ArticleMolecular genetics & genomic medicine2021
A study of elective genome sequencing and pharmacogenetic testing in an unselected population.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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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.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Elective genomic sequencing for adults in research, clinical and commercial contexts.BMC medical genomics · 2026Article
- Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026Article
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- Primary Care Providers' Experiences With an Active Elective Genetic Testing Program.Health education & behavior : the official publication of the Society for Public Health Education · 2025Article
- Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.Frontiers in genetics · 2025Article
- Genetics Visit Uptake Among Individuals Receiving Clinically Actionable Genomic Screening Results.JAMA network open · 2024Article
- Pharmacogenetic profiling via genome sequencing in children with medical complexity.Pediatric research · 2023Article
- Genome screening, reporting, and genetic counseling for healthy populations.Human genetics · 2023Article
- A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Molecular genetics & genomic medicine · 2021Article
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenome sequencing (GS) of individuals without a medical indication, known as elective GS, is now available at a number of centers around the United States. Here we report the results of elective GS and pharmacogenetic panel testing in 52 individuals at a private genomics clinic in Alabama.
methodsIndividuals seeking elective genomic testing and pharmacogenetic testing were recruited through a private genomics clinic in Huntsville, AL. Individuals underwent clinical genome sequencing with a separate pharmacogenetic testing panel.
resultsSix participants (11.5%) had pathogenic or likely pathogenic variants that may explain one or more aspects of their medical history. Ten participants (19%) had variants that altered the risk of disease in the future, including two individuals with clonal hematopoiesis of indeterminate potential. Forty-four participants (85%) were carriers of a recessive or X-linked disorder. All individuals with pharmacogenetic testing had variants that affected current and/or future medications.
conclusionOur study highlights the importance of collecting detailed phenotype information to interpret results in elective GS.
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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.