Evidence map›Paper›PMID 22827772›Full record

ArticleBMC genomics2012

How accurate can genetic predictions be?

Jonathan M Dreyfuss, Daniel Levner, James E Galagan, George M Church, Marco F Ramoni

Abstract read
In one paragraph

Article in BMC genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

3 citing papers in PubMed.

  1. Genetic Bases of Complex Traits: From Quantitative Trait Loci to Prediction.Methods in molecular biology (Clifton, N.J.) · 2022
    Article
  2. Article
  3. 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

5 authors.

Jonathan M DreyfussPartners Center for Personalized Genetic Medicine, Boston, MA 02115, USA. jdreyf@bu.edu
Daniel Levner
James E Galagan
George M Church
Marco F Ramoni

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPre-symptomatic prediction of disease and drug response based on genetic testing is a critical component of personalized medicine. Previous work has demonstrated that the predictive capacity of genetic testing is constrained by the heritability and prevalence of the tested trait, although these constraints have only been approximated under the assumption of a normally distributed genetic risk distribution.

resultsHere, we mathematically derive the absolute limits that these factors impose on test accuracy in the absence of any distributional assumptions on risk. We present these limits in terms of the best-case receiver-operating characteristic (ROC) curve, consisting of the best-case test sensitivities and specificities, and the AUC (area under the curve) measure of accuracy. We apply our method to genetic prediction of type 2 diabetes and breast cancer, and we additionally show the best possible accuracy that can be obtained from integrated predictors, which can incorporate non-genetic features.

conclusionKnowledge of such limits is valuable in understanding the implications of genetic testing even before additional associations are identified.

Indexed as

Genome, HumanModels, GeneticArea Under CurveBreast NeoplasmsComputer SimulationDiabetes Mellitus, Type 2FemaleGenome-Wide Association StudyHumansPrecision MedicinePredictive Value of TestsPrognosisROC Curve

Identifiers

PMID22827772
PMCPMC3534619

What OpenQuestion holds

Textmetadata
LicenceCC BY
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Registered trials

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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.