ArticlePLoS genetics2012
Comparison of family history and SNPs for predicting risk of complex disease.
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 64 papers.
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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
64 citing papers in PubMed, 125 citations in OpenAlex.
- Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study.Lancet (London, England) · 2016Trial
- Impact of delivery models on understanding genomic risk for type 2 diabetes.Public health genomics · 2014Trial
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
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- Interaction between breastfeeding duration and an obesity genetic risk score to predict body fat composition in European adolescents: The HELENA study.Pediatric obesity · 2025Article
- Exposure-associated DNA methylation among people exposed to multiple industrial pollutants.Clinical epigenetics · 2024Article
- Innovative approaches to atrial fibrillation prediction: should polygenic scores and machine learning be implemented in clinical practice?Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2024Review
- Review
- Genetic and non-genetic factors in prediction of early pubertal development in Chinese girls.Frontiers in endocrinology · 2024Article
- Research progress and challenges of preimplantation genetic testing for polygenic diseases.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- Systematic comparison of family history and polygenic risk across 24 common diseases.American journal of human genetics · 2022Article
- Article
- Incorporating family history of disease improves polygenic risk scores in diverse populations.Cell genomics · 2022Article
- Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description.JMIR cancer · 2022Article
- Personalized Lifestyle Intervention and Functional Evaluation Health Outcomes SurvEy: Presentation of the LIFEHOUSE Study Using N-of-One Tent-Umbrella-Bucket Design.Journal of personalized medicine · 2022Article
- Evaluating the interrelations between the autism polygenic score and psychiatric family history in risk for autism.Autism research : official journal of the International Society for Autism Research · 2022Article
- Article
- Evaluation and comparison of hereditary Cancer guidelines in the population.Hereditary cancer in clinical practice · 2021Article
- Risk Stratification and Clinical Utility of Polygenic Risk Scores in Ophthalmology.Translational vision science & technology · 2021Article
- A Genetic Risk Score Improves the Prediction of Type 2 Diabetes Mellitus in Mexican Youths but Has Lower Predictive Utility Compared With Non-Genetic Factors.Frontiers in endocrinology · 2021Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The clinical utility of family history and genetic tests is generally well understood for simple Mendelian disorders and rare subforms of complex diseases that are directly attributable to highly penetrant genetic variants. However, little is presently known regarding the performance of these methods in situations where disease susceptibility depends on the cumulative contribution of multiple genetic factors of moderate or low penetrance. Using quantitative genetic theory, we develop a model for studying the predictive ability of family history and single nucleotide polymorphism (SNP)-based methods for assessing risk of polygenic disorders. We show that family history is most useful for highly common, heritable conditions (e.g., coronary artery disease), where it explains roughly 20%-30% of disease heritability, on par with the most successful SNP models based on associations discovered to date. In contrast, we find that for diseases of moderate or low frequency (e.g., Crohn disease) family history accounts for less than 4% of disease heritability, substantially lagging behind SNPs in almost all cases. These results indicate that, for a broad range of diseases, already identified SNP associations may be better predictors of risk than their family history-based counterparts, despite the large fraction of missing heritability that remains to be explained. Our model illustrates the difficulty of using either family history or SNPs for standalone disease prediction. On the other hand, we show that, unlike family history, SNP-based tests can reveal extreme likelihood ratios for a relatively large percentage of individuals, thus providing potentially valuable adjunctive evidence in a differential diagnosis.
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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.