Evidence map›Paper›PMID 19729884›Full record

ArticlePublic health genomics2010

Considerations for designing a prototype genetic test for use in translational research.

C H Wade, C M McBride, S L R Kardia, L C Brody

Registry-linked trialAbstract read
In one paragraph

Article in Public health genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03130569 (Personalized Genomic Testing for Skin Cancer - Maximizing Utility and Reach), which is not on this map. Cited by 13 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed, 1 pooled it
–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.

NCT03130569 nacompletednot on this mapstarted 2015, after this paper: background citation

Personalized Genomic Testing for Skin Cancer - Maximizing Utility and Reach

TypeinterventionalSponsorUniversity of New MexicoRan2015 to 2017Enrolled600ConditionsMelanoma (Skin)ArmsWeb-based Module Group
3 · Its place in the literature

Who cites it

13 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Effects of undergoing multiplex genetic susceptibility testing on parent attitudes towards testing their children.Annals of behavioral medicine : a publication of the Society of Behavioral Medicine · 2014
    Article
  7. On averages and peaks: how do people integrate attitudes about multiple diseases to reach a decision about multiplex genetic testing?Medical decision making : an international journal of the Society for Medical Decision Making · 2013
    Article
  8. Association between health-service use and multiplex genetic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2012
    Article
  9. Patients' understanding of and responses to multiplex genetic susceptibility test results.Genetics in medicine : official journal of the American College of Medical Genetics · 2012
    Article
  10. Article
  11. Article
  12. Direct-to-consumer personalized genomic testing.Human molecular genetics · 2011
    Review
  13. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

4 authors.

C H WadeGenome Technology Branch, National Human Genome Research Institute, Bethesda, Md., USA.
C M McBride
S L R Kardia
L C Brody

Funding

Multiplex InitiativeZIAHG200344 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI MC BRIDE, COLLEEN M · 2009 to 2013
$3.9M
Intramural NIH HHS
6 · The paper itself

Abstract

backgroundTranslational research is needed to explore how people will respond to personal genetic susceptibility information related to common health conditions. Maximizing the rigor of this research will require that genetic test results be returned to study participants. Currently, there is no established method that guides the selection of genetic variants to be used in research with these objectives. METHODS AND

resultsTo address this question, we designed a process to identify gene variants and health conditions to be included in a prototype genetic test for use in a larger research effort, the Multiplex Initiative. The intention of this exploration was to facilitate research that generates individual genetic test results that are returned to study participants. Inclusion criteria were developed as part of a transdisciplinary and iterative process that considered the weight of evidential support for genetic association with common health conditions, the appropriateness of use in human subjects research, and the recommendations of expert peer reviewers.

conclusionsThe selection process was designed to identify gene variants for the limited purpose of translational research and, therefore, should not be seen as producing a valid clinical test. However, this example of an applied selection process may provide guidance for researchers who are designing studies to evaluate the implications of genetic susceptibility testing through the return of personalized genetic information. As the rate of genomic discoveries increases, such research will be essential in steering the translation of this information towards the greatest public health benefit.

Indexed as

Genetic CounselingGenetic Diseases, InbornGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenomicsHumansPatient SelectionPeer ReviewResearch DesignTranslational Research, Biomedical

Identifiers

PMID19729884
PMCPMC2837884

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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.