Format

Send to

Choose Destination
Tremor Other Hyperkinet Mov (N Y). 2018 Mar 27;8:545. doi: 10.7916/D8B296RK. eCollection 2018.

Genetic Testing Preferences of Individuals in Families with Essential Tremor.

Author information

1
Division of Movement Disorders, Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, USA.
2
Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
3
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY, USA.
4
G.H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
5
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA.
6
Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY, USA.
7
Division of Epidemiology, New York State Psychiatric Institute, New York, NY, USA.
8
Department of Chronic Disease Epidemiology, Yale School of Public Health, Yale University, New Haven, CT, USA.
9
Center for Neuroepidemiology and Clinical Neurological Research, Yale School of Medicine, Yale University, New Haven, CT, USA.

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.

KEYWORDS:

Essential tremor; epidemiology; genetics; survey

PMID:
29607242
PMCID:
PMC5876471
DOI:
10.7916/D8B296RK
[Indexed for MEDLINE]
Free PMC Article

Conflict of interest statement

Funding: This study was funded by the National Institutes of Health: R01 NS073872. Conflict of Interests: The authors report no conflicts of interest. Ethics Statement: This study was performed in accordance with the ethical standards detailed in the Declaration of Helsinki. The authors’ institutional ethics committee has approved this study and all patients have provided written informed consent.

Supplemental Content

Full text links

Icon for Center for Digital Research and Scholarship, Columbia University Icon for PubMed Central
Loading ...
Support Center