Genetic Testing Preferences of Individuals in Families with Essential Tremor
| Autor: | Naranjo, Kelly, Park, Jemin, Chen, Karen, Hernandez, Nora, Clark, Lorraine, Ottman, Ruth, Louis, Elan D |
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| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male lcsh:Diseases of the musculoskeletal system Epidemiology lcsh:RC346-429 03 medical and health sciences Young Adult 0302 clinical medicine Tremor Genetics Humans Family Genetic Predisposition to Disease Genetic Testing Survey lcsh:Neurology. Diseases of the nervous system Aged Aged 80 and over Patient Preference Articles Middle Aged Neurology 030220 oncology & carcinogenesis FOS: Biological sciences Essential tremor Female lcsh:RC925-935 030217 neurology & neurosurgery 030215 immunology |
| Zdroj: | Tremor and Other Hyperkinetic Movements, Pp 1-8 (2018) Tremor and Other Hyperkinetic Movements |
| Popis: | 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. Tremor and Other Hyperkinetic Movements, Tremor and Other Hyperkinetic Movements |
| Databáze: | OpenAIRE |
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