ArticleGenetics in medicine : official journal of the American College of Medical Genetics2015
Summarizing polygenic risks for complex diseases in a clinical whole-genome report.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04331535 (Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care), which is not on this map. Cited by 22 papers.
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.
Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
Who cites it
22 citing papers in PubMed.
- Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Trial
- How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.Journal of general internal medicine · 2018Trial
- The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.Annals of internal medicine · 2017Trial
- Navigating the uncertainty of precision cancer screening: The role of shared decision-making.PEC innovation · 2023Article
- Behavioral and psychological impact of genome sequencing: a pilot randomized trial of primary care and cardiology patients.NPJ genomic medicine · 2021Article
- Alternative Applications of Genotyping Array Data Using Multivariant Methods.Trends in genetics : TIG · 2020Review
- Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.American journal of human genetics · 2019Article
- Advancing Personalized Medicine Through the Application of Whole Exome Sequencing and Big Data Analytics.Frontiers in genetics · 2019Review
- Cost Analyses of Genomic Sequencing: Lessons Learned from the MedSeq Project.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2018Article
- Cancer genetics, precision prevention and a call to action.Nature genetics · 2018Review
- Genetic variants demonstrating flip-flop phenomenon and breast cancer risk prediction among women of African ancestry.Breast cancer research and treatment · 2018Article
- A Comparison of Whole Genome Sequencing to Multigene Panel Testing in Hypertrophic Cardiomyopathy Patients.Circulation. Cardiovascular genetics · 2017Article
- The landscape of genetic susceptibility correlations among diseases and traits.Journal of the American Medical Informatics Association : JAMIA · 2017Article
- Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study.PLoS genetics · 2017Article
- Genetic Approaches to Understanding Psychiatric Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2017Review
- Psychological and behavioural impact of returning personal results from whole-genome sequencing: the HealthSeq project.European journal of human genetics : EJHG · 2017Article
- Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.American journal of human genetics · 2016Article
- Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.Journal of personalized medicine · 2016Review
- Reclassification of genetic-based risk predictions as GWAS data accumulate.Genome medicine · 2016Article
- Assessing the Costs and Cost-Effectiveness of Genomic Sequencing.Journal of personalized medicine · 2015Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
Abstract
purposeDisease-causing mutations and pharmacogenomic variants are of primary interest for clinical whole-genome sequencing. However, estimating genetic liability for common complex diseases using established risk alleles might one day prove clinically useful.
methodsWe compared polygenic scoring methods using a case-control data set with independently discovered risk alleles in the MedSeq Project. For eight traits of clinical relevance in both the primary-care and cardiomyopathy study cohorts, we estimated multiplicative polygenic risk scores using 161 published risk alleles and then normalized them using the population median estimated from the 1000 Genomes Project.
resultsOur polygenic score approach identified the overrepresentation of independently discovered risk alleles in cases as compared with controls using a large-scale genome-wide association study data set. In addition to normalized multiplicative polygenic risk scores and rank in a population, the disease prevalence and proportion of heritability explained by known common risk variants provide important context in the interpretation of modern multilocus disease risk models.
conclusionOur approach in the MedSeq Project demonstrates how complex trait risk variants from an individual genome can be summarized and reported for the general clinician and also highlights the need for definitive clinical studies to obtain reference data for such estimates and to establish clinical utility.
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.