ReviewGenetics in medicine : official journal of the American College of Medical Genetics2013
How can polygenic inheritance be used in population screening for common diseases?
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2013. 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 34 papers, 3 of them syntheses that pooled it.
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.
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
34 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Primary care providers' cancer genetic testing-related knowledge, attitudes, and communication behaviors: A systematic review and research agenda.Journal of general internal medicine · 2017Pooled it
- Family history and the natural history of colorectal cancer: systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Pooled it
- A genome-wide pleiotropy scan for prostate cancer risk.European urology · 2015Pooled it
- High-Resolution Melting PCR-Based SNP Germline Genotyping ofDiagnostics (Basel, Switzerland) · 2026Article
- Leveraging Dental Biotechnology for Population Oral Health: Innovations in Prevention, Diagnosis, and Treatment.International journal of molecular sciences · 2025Review
- The GenoVA study: Equitable implementation of a pragmatic randomized trial of polygenic-risk scoring in primary care.American journal of human genetics · 2023Article
- Polygenic risk score for embryo selection-not ready for prime time.Human reproduction (Oxford, England) · 2022Article
- Risk-Adjusted Cancer Screening and Prevention (RiskAP): Complementing Screening for Early Disease Detection by a Learning Screening Based on Risk Factors.Breast care (Basel, Switzerland) · 2022Review
- Risk-stratified strategies in population screening for colorectal cancer.International journal of cancer · 2022Review
- ASSESSING SELECTION BIAS IN REGRESSION COEFFICIENTS ESTIMATED FROM NONPROBABILITY SAMPLES WITH APPLICATIONS TO GENETICS AND DEMOGRAPHIC SURVEYS.The annals of applied statistics · 2021Article
- May direct-to-consumer genetic testing have an impact on general practitioners' daily practice? a cross-sectional study of patients' intentions towards this approach.BMC family practice · 2021Article
- Single nucleotide polymorphisms (SNPs) in prostate cancer: its implications in diagnostics and therapeutics.American journal of translational research · 2021Review
- Cost-Effectiveness of Risk-Stratified Colorectal Cancer Screening Based on Polygenic Risk: Current Status and Future Potential.JNCI cancer spectrum · 2020Article
- Cost-Effectiveness of Personalized Screening for Colorectal Cancer Based on Polygenic Risk and Family History.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Article
- The illusion of polygenic disease risk prediction.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Polygenic risk-stratified screening for cancer: Responsibilization in public health genomics.Social studies of science · 2019Article
- A collaborative translational research framework for evaluating and implementing the appropriate use of human genome sequencing to improve health.PLoS medicine · 2018Article
- Genetic profiling of decreased bone mineral density in an independent sample of Caucasian women.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
- Counselees' Perspectives of Genomic Counseling Following Online Receipt of Multiple Actionable Complex Disease and Pharmacogenomic Results: a Qualitative Research Study.Journal of genetic counseling · 2017Article
- Developing and evaluating polygenic risk prediction models for stratified disease prevention.Nature reviews. Genetics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Advances in genomics have near-term impact on diagnosis and management of monogenic disorders. For common complex diseases, the use of genomic information from multiple loci (polygenic model) is generally not useful for diagnosis and individual prediction. In principle, the polygenic model could be used along with other risk factors in stratified population screening to target interventions. For example, compared to age-based criterion for breast, colorectal, and prostate cancer screening, adding polygenic risk and family history holds promise for more efficient screening with earlier start and/or increased frequency of screening for segments of the population at higher absolute risk than an established screening threshold; and later start and/or decreased frequency of screening for segments of the population at lower risks. This approach, while promising, faces formidable challenges for building its evidence base and for its implementation in practice. Currently, it is unclear whether or not polygenic risk can contribute enough discrimination to make stratified screening worthwhile. Empirical data are lacking on population-based age-specific absolute risks combining genetic and non-genetic factors, on impact of polygenic risk genes on disease natural history, as well as information on comparative balance of benefits and harms of stratified interventions. Implementation challenges include difficulties in integration of this information in the current health-care system in the United States, the setting of appropriate risk thresholds, and ethical, legal, and social issues. In an era of direct-to-consumer availability of personal genomic information, the public health and health-care systems need to prepare for an evidence-based integration of this information into population screening.
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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.