Evidence map›Paper›PMID 29607242›Full record

ArticleTremor and other hyperkinetic movements (New York, N.Y.)2018

Genetic Testing Preferences of Individuals in Families with Essential Tremor.

Kelly V Naranjo, Jemin Park, Karen P Chen, Nora Hernandez, Lorraine N Clark, Ruth Ottman, Elan D Louis

Open access · greenAbstract read
In one paragraph

Article in Tremor and other hyperkinetic movements (New York, N.Y.), 2018. 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
0.5field-weighted citation impact, top 34% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. Article
  2. Genetic Risk Factors for Essential Tremor: A Review.Tremor and other hyperkinetic movements (New York, N.Y.) · 2020
    Review
  3. Essential tremor: New advances.Clinical parkinsonism & related disorders · 2020
    Review
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

7 authors at 3 institutions in 1 country.

Kelly V NaranjoDivision of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Jemin ParkDivision of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Karen P ChenDivision of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Nora HernandezDivision of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Lorraine N ClarkTaub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Ruth OttmanG.H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
Elan D LouisDivision of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
Yale University · USColumbia University · USNew York State Psychiatric Institute

Funding

Identification of Susceptibility Genes for Essential TremorR01NS073872 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N, LOUIS, ELAN D · 2011 to 2019
$7.4M
NINDS NIH HHS R01 NS073872
6 · The paper itself

Abstract

Background: The search for essential tremor (ET) genes is active, and it is only a matter of time before genetic tests become available. Genetic testing preferences in families have been studied in numerous other neurological disorders but there are no published data about ET. Methods: We surveyed 34 ET probands and their relatives (43 affected, 28 unaffected) enrolled in our Family Study of Essential Tremor to assess their interest in genetic testing. We examined whether clinical factors influenced their interest in testing. Clinical utility ("Your physician will be able to use the information obtained to improve your care") and penetrance ("How likely an individual who carries an ET gene is to develop ET") were defined for participants. Results: Interest in genetic testing was high in ET families (90/105 [85.7%]). There was a significant difference between affected (including probands and affected relatives) and unaffected relatives in terms of their interest in genetic testing, with the former being more interested (70/77 [90.9%] vs. 20/28 [71.4%] p = 0.04). Participants were more likely to want testing in the scenarios with high clinical utility; disease penetrance was not a determining factor (all p < 0.05). Sixteen hypothetical factors were identified that might influence a participant's decision to undergo genetic testing for ET. Discussion: Interest in genetic testing was high in ET families. While genetic testing is not currently available for ET, the hunt for ET genes is ongoing, and this is a highly familial disorder. Understanding genetic testing preferences will greatly aid clinicians once a genetic test becomes available.

Indexed as

Genetic TestingPatient PreferenceAdultAgedAged, 80 and overEssential TremorFamilyFemaleGenetic Predisposition to DiseaseHumansMaleMiddle AgedYoung AdultepidemiologyEssential tremorgeneticssurvey

Identifiers

PMID29607242
PMCPMC5876471
OpenAlexW2794697133

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.