Sakanaka Karina, Waters Cheryl H, Levy Oren A, Louis Elan D, Chung Wendy K, Marder Karen S, Alcalay Roy N
Department of Neurology, College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
J Genet Couns. 2014 Feb;23(1):114-20. doi: 10.1007/s10897-013-9618-y. Epub 2013 Jun 9.
The purpose of the study is to investigate Parkinson disease (PD) patients' and caregivers' knowledge of and interest in genetic testing. Gaucher disease (GD) results from recessive mutations in glucocerebrosidase (GBA). Both heterozygote GBA carriers and GD patients are at greater risk for PD. Studies regarding knowledge of and interest in genetic testing have been limited and have not offered genetic results to participants. In this study, 353 PD patients and 180 caregivers were recruited to a PD genetic study. The association between GD, GBA mutations and PD was described to participants who reported their familiarity with genetic terms, answered questions on genetic concepts, and indicated their interest in knowing if they may have GD (two GBA mutations) and other genetic information that could impact their health. Ninety-three-percent of participants were interested in receiving GBA results; however, only 51.6 % of PD participants and 55.6 % of caregivers knew that "scientists have identified genes associated with a higher risk of developing PD." PD patients may benefit from education and genetic counseling on the implications of genetic testing.
该研究的目的是调查帕金森病（PD）患者及其护理人员对基因检测的了解程度和兴趣。戈谢病（GD）由葡萄糖脑苷脂酶（GBA）的隐性突变引起。GBA杂合子携带者和GD患者患PD的风险都更高。关于基因检测的了解程度和兴趣的研究有限，且未向参与者提供基因检测结果。在本研究中，353名PD患者和180名护理人员被纳入一项PD基因研究。向那些表示熟悉基因术语、回答了基因概念问题并表示有兴趣了解自己是否可能患有GD（两个GBA突变）以及其他可能影响其健康的基因信息的参与者描述了GD、GBA突变与PD之间的关联。93%的参与者有兴趣获得GBA检测结果；然而，只有51.6%的PD患者和55.6%的护理人员知道“科学家已经确定了与患PD风险较高相关的基因”。PD患者可能会从关于基因检测意义的教育和遗传咨询中受益。
