Evidence map›Paper›PMID 23541341›Full record

ArticleAmerican journal of human genetics2013

The benefits of using genetic information to design prevention trials.

Youna Hu, Li Li, Margaret G Ehm, Nan Bing, Kijoung Song, Matthew R Nelson, Philippa J Talmud, Aroon D Hingorani, Meena Kumari, Mika Kivimäki and 6 more

Open access · bronzeAbstract read
In one paragraph

Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.1field-weighted citation impact, top 13% of its field
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 20 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Genotype-Based Recall Studies in Complex Cardiometabolic Traits.Circulation. Genomic and precision medicine · 2018
    Review
  6. Review
  7. Review
  8. Article
  9. Review
  10. PRSice: Polygenic Risk Score software.Bioinformatics (Oxford, England) · 2015
    Article
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 5 institutions in 2 countries.

Youna HuDepartment of Biostatistics, University of Michigan, Ann Arbor, MI 48109, USA.
Li Li
Margaret G Ehm
Nan Bing
Kijoung Song
Matthew R Nelson
Philippa J Talmud
Aroon D Hingorani
Meena Kumari
Mika Kivimäki
Chun-Fang Xu
Dawn M Waterworth
John C Whittaker
Gonçalo R Abecasis
Cathie Spino
Hyun Min Kang
Research Triangle Park Foundation · USUniversity College London · GBUniversity of Michigan · USGlaxoSmithKline (United Kingdom) · GBGlaxoSmithKline (United States) · US

Funding

Computational and statistical models for human geneticsR01HG007022 · NHGRI · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI ABECASIS, GONCALO · 2012 to 2016
$3.0M
NHGRI NIH HHS R01 HG007022
6 · The paper itself

Abstract

Clinical trials for preventative therapies are complex and costly endeavors focused on individuals likely to develop disease in a short time frame, randomizing them to treatment groups, and following them over time. In such trials, statistical power is governed by the rate of disease events in each group and cost is determined by randomization, treatment, and follow-up. Strategies that increase the rate of disease events by enrolling individuals with high risk of disease can significantly reduce study size, duration, and cost. Comprehensive study of common, complex diseases has resulted in a growing list of robustly associated genetic markers. Here, we evaluate the utility--in terms of trial size, duration, and cost--of enriching prevention trial samples by combining clinical information with genetic risk scores to identify individuals at greater risk of disease. We also describe a framework for utilizing genetic risk scores in these trials and evaluating the associated cost and time savings. With type 1 diabetes (T1D), type 2 diabetes (T2D), myocardial infarction (MI), and advanced age-related macular degeneration (AMD) as examples, we illustrate the potential and limitations of using genetic data for prevention trial design. We illustrate settings where incorporating genetic information could reduce trial cost or duration considerably, as well as settings where potential savings are negligible. Results are strongly dependent on the genetic architecture of the disease, but we also show that these benefits should increase as the list of robustly associated markers for each disease grows and as large samples of genotyped individuals become available.

Indexed as

GenotypeResearch DesignClinical Trials as TopicCost-Benefit AnalysisDiabetes Mellitus, Type 1Diabetes Mellitus, Type 2Genetic TestingGenetic VariationHumansMacular DegenerationModels, StatisticalMyocardial InfarctionPhenotypeRisk Factors

Identifiers

PMID23541341
PMCPMC3617383
OpenAlexW1976778410

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.