ArticleScientific reports2022
Polygenic Health Index, General Health, and Pleiotropy: Sibling Analysis and Disease Risk Reduction.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 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.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- Modeling polygenic embryo screening in real-world IVF patients demonstrates limitations on efficacy.medRxiv : the preprint server for health sciences · 2026Article
- Preventing premature deaths through polygenic risk scores.Nature communications · 2026Article
- Polygenic risk scores and embryonic screening: considerations for regulation.Journal of medical ethics · 2025Article
- Article
- Predicting the direction of phenotypic difference.Nature communications · 2025Article
- Promises and pitfalls of preimplantation genetic testing for polygenic disorders: a narrative review.F&S reviews · 2025Article
- Foretelling the Future: Preimplantation Genetic Testing and the Coming of Polygenic Embryo Screening.Journal of clinical medicine · 2025Review
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Polygenic embryo screening: quo vadis?Journal of assisted reproduction and genetics · 2024Review
- Predicting the direction of phenotypic difference.bioRxiv : the preprint server for biology · 2024Article
- New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2023Article
- Gattaca as a lens on contemporary genetics: marking 25 years into the film's "not-too-distant" future.Genetics · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
Abstract
We construct a polygenic health index as a weighted sum of polygenic risk scores for 20 major disease conditions, including, e.g., coronary artery disease, type 1 and 2 diabetes, schizophrenia, etc. Individual weights are determined by population-level estimates of impact on life expectancy. We validate this index in odds ratios and selection experiments using unrelated individuals and siblings (pairs and trios) from the UK Biobank. Individuals with higher index scores have decreased disease risk across almost all 20 diseases (no significant risk increases), and longer calculated life expectancy. When estimated Disability Adjusted Life Years (DALYs) are used as the performance metric, the gain from selection among ten individuals (highest index score vs average) is found to be roughly 4 DALYs. We find no statistical evidence for antagonistic trade-offs in risk reduction across these diseases. Correlations between genetic disease risks are found to be mostly positive and generally mild. These results have important implications for public health and also for fundamental issues such as pleiotropy and genetic architecture of human disease conditions.
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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.