ArticleAmerican journal of human genetics2003
Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes.
Article in American journal of human genetics, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 50 papers, 4 of them syntheses that pooled it.
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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.
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Who cites it
50 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Multigene panels in prostate cancer risk assessment: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Pooled it
- Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research.Pediatrics · 2015Guideline
- Predicting risk of type 2 diabetes mellitus with genetic risk models on the basis of established genome-wide association markers: a systematic review.American journal of epidemiology · 2013Pooled it
- The genetics of primary haemorrhagic stroke, subarachnoid haemorrhage and ruptured intracranial aneurysms in adults.PloS one · 2008Pooled it
- Endothelin-converting enzyme-1 is expressed in human cerebral cortex and protects against Alzheimer's disease.Molecular psychiatry · 2004Trial
- Evaluating genetic-based disease prediction approaches through simulation.Human genetics · 2026Article
- Schizophrenia and Rheumatoid Arthritis Genetic Scenery: Potential Non-HLA Genes Involved in Both Diseases Relationship.The Yale journal of biology and medicine · 2024Article
- Genetic Bases of Complex Traits: From Quantitative Trait Loci to Prediction.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Factors Influencing Participation in Biospecimen Research among Parents of Youth with Mental Health Conditions.Public health genomics · 2020Article
- In vivo epigenome editing and transcriptional modulation using CRISPR technology.Transgenic research · 2018Review
- A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases.Frontiers in genetics · 2018Review
- Reclassification of genetic-based risk predictions as GWAS data accumulate.Genome medicine · 2016Article
- Summarizing polygenic risks for complex diseases in a clinical whole-genome report.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Article
- Risk Classification with an Adaptive Naive Bayes Kernel Machine Model.Journal of the American Statistical Association · 2015Article
- Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium.American journal of epidemiology · 2014Article
- Gene-gene and gene-environment interactions in ulcerative colitis.Human genetics · 2014Article
- Predictive genetic testing for complex diseases: a public health perspective.QJM : monthly journal of the Association of Physicians · 2014Review
- Genetic-based prediction of disease traits: prediction is very difficult, especially about the future.Frontiers in genetics · 2014Review
- Public attitudes towards genomic risk profiling as a component of routine population screening.Genome · 2013Article
- A novel approach to detect cumulative genetic effects and genetic interactions in Crohn's disease.Inflammatory bowel diseases · 2013Article
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Studies have argued that genetic testing will provide limited information for predicting the probability of common diseases, because of the incomplete penetrance of genotypes and the low magnitude of associated risks for the general population. Such studies, however, have usually examined the effect of one gene at time. We argue that disease prediction for common multifactorial diseases is greatly improved by considering multiple predisposing genetic and environmental factors concurrently, provided that the model correctly reflects the underlying disease etiology. We show how likelihood ratios can be used to combine information from several genetic tests to compute the probability of developing a multifactorial disease. To show how concurrent use of multiple genetic tests improves the prediction of a multifactorial disease, we compute likelihood ratios by logistic regression with simulated case-control data for a hypothetical disease influenced by multiple genetic and environmental risk factors. As a practical example, we also apply this approach to venous thrombosis, a multifactorial disease influenced by multiple genetic and nongenetic risk factors. Under reasonable conditions, the concurrent use of multiple genetic tests markedly improves prediction of disease. For example, the concurrent use of a panel of three genetic tests (factor V Leiden, prothrombin variant G20210A, and protein C deficiency) increases the positive predictive value of testing for venous thrombosis at least eightfold. Multiplex genetic testing has the potential to improve the clinical validity of predictive testing for common multifactorial diseases.
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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.