Evidence map›Paper›PMID 25266816›Full record

ArticleEpilepsia2014

Genetic testing preferences in families containing multiple individuals with epilepsy.

Janice O Okeke, Virginia E Tangel, Shawn T Sorge, Dale C Hesdorffer, Melodie R Winawer, Jeff Goldsmith, Jo C Phelan, Wendy K Chung, Sara Shostak, Ruth Ottman

Open access · bronzeAbstract read
In one paragraph

Article in Epilepsia, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.

0numbers the graph read from it
0cells of the map it votes in
10citing papers in PubMed
2.3field-weighted citation impact, top 11% 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

10 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Genetic Testing Preferences of Individuals in Families with Essential Tremor.Tremor and other hyperkinetic movements (New York, N.Y.) · 2018
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 4 institutions in 1 country.

Janice O OkekeGH Sergievsky Center, Columbia University, New York, New York, U.S.A; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, New York, U.S.A.
Virginia E Tangel
Shawn T Sorge
Dale C Hesdorffer
Melodie R Winawer
Jeff Goldsmith
Jo C Phelan
Wendy K Chung
Sara Shostak
Ruth Ottman
Columbia University · USBrandeis University · USNew York State Psychiatric InstituteRutgers, The State University of New Jersey · US

Funding

Center for Research on the Ethical, Legal and Social Implications of Psychiatric, Neurologic and Behavioral GeneticsP50HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2013 to 2017
$5.4M
Psychosocial Impact of Genetics in EpilepsyR01NS078419 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI OTTMAN, RUTH · 2012 to 2015
$2.3M
NHGRI NIH HHS P50 HG007257NINDS NIH HHS R01 NS078419
6 · The paper itself

Abstract

objectiveTo examine genetic testing preferences in families containing multiple individuals with epilepsy.

methodsOne hundred forty-three individuals with epilepsy and 165 biologic relatives without epilepsy from families containing multiple affected individuals were surveyed using a self-administered questionnaire. Four genetic testing scenarios were presented, defined by penetrance (100% vs. 50%) and presence or absence of clinical utility. Potential predictors of genetic testing preferences were evaluated using generalized estimating equations with robust Poisson regression models. The influence of 21 potential testing motivations was also assessed.

resultsFor the scenario with 100% penetrance and clinical utility, 85% of individuals with epilepsy and 74% of unaffected relatives responded that they would definitely or probably want genetic testing. For the scenario with 100% penetrance but without clinical utility, the proportions who responded that they would want testing were significantly lower in both affected individuals (69%) and unaffected relatives (57%). Penetrance (100% vs. 50%) was not a significant predictor of genetic testing interest. The highest-ranking motivations for genetic testing were the following: the possibility that the results could improve health or health care, the potential to know if epilepsy in the family is caused by a gene, and the possibility of changing behavior or lifestyle to prevent seizures. SIGNIFICANCE: Interest in epilepsy genetic testing may be high in affected and unaffected individuals in families containing multiple individuals with epilepsy, especially when testing has implications for improving clinical care.

Indexed as

Genetic Predisposition to DiseasePenetranceAdultAgedAged, 80 and overEpilepsyFamilyFemaleGenetic TestingHumansMaleMiddle AgedMutationYoung AdultEpidemiologyEpilepsyGeneticsGenetic testingPatient preferences

Identifiers

PMID25266816
PMCPMC4232990
OpenAlexW2069198245

What OpenQuestion holds

Textmetadata
LicenceTDM
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.