Evidence map›Paper›PMID 26693851›Full record

ArticleEpilepsia2016

Parents' interest in genetic testing of their offspring in multiplex epilepsy families.

Courtney B Caminiti, Dale C Hesdorffer, Sara Shostak, Jeff Goldsmith, Shawn T Sorge, Melodie R Winawer, Jo C Phelan, Wendy K Chung, Ruth Ottman

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Epilepsia, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 17% 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

4 citing papers in PubMed, 9 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. 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

9 authors at 3 institutions in 1 country.

Courtney B CaminitiGH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A.
Dale C HesdorfferGH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A.
Sara ShostakDepartment of Sociology, Brandeis University, Waltham, Massachusetts, U.S.A.
Jeff GoldsmithDepartment of Biostatistics, Mailman School of Public Health, Columbia University, New York, New York, U.S.A.
Shawn T SorgeGH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A.
Melodie R WinawerGH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A.
Jo C PhelanDepartment of Sociomedical Sciences, Mailman School of Public Health, Columbia University, New York, New York, U.S.A.
Wendy K ChungDepartment of Pediatrics, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A.
Ruth OttmanGH Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, New York, U.S.A.
Columbia University · USBrandeis University · USNew York State Psychiatric Institute

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 evaluate parents' interest in genetic testing of their offspring in families containing multiple individuals with epilepsy.

methodsSeventy-seven parents with affected offspring and 173 parents without affected offspring from families containing multiple individuals with epilepsy completed a questionnaire asking about their interest in genetic testing of their offspring. Interest in testing was ascertained in four scenarios defined by clinical utility and penetrance of the gene in the test (100% vs. 50%). Pairwise agreement in interest was assessed between parents for testing themselves versus their offspring, and between mothers and fathers for their offspring.

resultsAmong parents with affected offspring, the proportion interested in genetic testing of offspring ("diagnostic testing") was 86% in the 100% penetrance, clinical utility scenario, and 71% in the 100% penetrance, no clinical utility scenario (p = 0.007). Among parents without affected offspring, comparable proportions interested in genetic testing of offspring ("predictive testing") were 74% and 53% (p < 0.001), and were significantly lower than in parents with affected offspring (clinical utility, p = 0.02; no clinical utility, p = 0.01). Interest in testing did not differ by gene penetrance. Parents' agreement in testing interest for themselves versus their offspring was "substantial" (90% agreement, κ = 0.72) for a test with clinical utility, and "almost perfect" for a test without clinical utility (94% agreement, κ = 0.88). Agreement in testing interest between mothers and fathers was "moderate" for a test with clinical utility (85% agreement, κ = 0.48,), and "fair" for a test without clinical utility (67% agreement, κ = 0.30). SIGNIFICANCE: Interest in diagnostic genetic testing is strong among parents with offspring with epilepsy, particularly when the test offers clinical utility. Testing interest is lower for a diagnostic test without clinical utility, or for a predictive test in offspring at risk of developing epilepsy in the future.

Indexed as

Attitude to HealthGenetic TestingParentsAdultAge FactorsEducational StatusEpilepsyFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedPenetranceSex FactorsSurveys and QuestionnairesEpidemiologyEpilepsyGeneticsGenetic testingSurvey

Identifiers

PMID26693851
PMCPMC4744116
OpenAlexW2210058601

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.