Illes F, Bernhardt T, Prell K, Rietz C, Rudinger G, Frölich L, Maier W, Rietschel M
Zentralinstitut für Seelische Gesundheit, Abteilungen Gerontopsychiatrie sowie Genetische Epidemiologie in der Psychiatrie, J5, 68159, Mannheim, Germany.
Z Gerontol Geriatr. 2006 Jun;39(3):233-9. doi: 10.1007/s00391-006-0377-3.
Most neuropsychiatric disorders have a complex aetiology. Discovery of the underlying genetics will provide insights into the disorders and allow the subsequent development of therapeutic interventions based upon an understanding of causality. The first vulnerability genes in Alzheimer's disease (AD) have been identified. The contribution of each vulnerability gene to the disorder is limited and does not enable prediction of course and onset in individual cases, only modification of the a priori risk. However, people may wish to be informed about this modification. Professionals have not favoured this form of predictive testing due to an awareness of its limitations and its potential for harm. However, little is known about public attitudes and understanding of such genetic testing in neuropsychiatric disorders. The aim of our study was to assess the attitudes of the general population and to explore the influence on these attitudes of knowledge about the illness and the understanding of risk information. In our study, a representative sample of the German general population (n=2001), relatives of patients with Alzheimer's disease (n=101) and physicians (n=43) were interviewed about their attitudes towards genetic tests for Alzheimer's disease and their perception and interpretation of risk information. To assess the influence of genetic counselling on these factors, 234 people were questioned before, and four weeks after, they were provided with detailed relevant information. Our results indicate that a substantial proportion of the German population (57%) is in favour of psychiatric genetic testing for AD in general. Even when the explanatory power of a genetic test is limited, a substantial proportion of the population (47%) expressed an interest in genetic testing. Counselling slightly decreased the interest in having a genetic test for oneself (from 47% to 38%). Physicians were more hesitant than both relatives and the general population concerning predictive genetic testing. Only a minority (11%) favoured prenatal genetic testing. Our results also show that both knowledge about AD and the capacity to interpret risk estimates are limited. While physicians' estimation of their personal risk for developing AD approximated to the actual average risk for the population, people in the general population and the relatives of AD patients tended to overestimate their personal risk. However, most of the general population still perceived this risk as average or low. While most physicians could correctly interpret information regarding the probability of risk, only one third of AD patients' relatives or members of the general population could. As the decision of an individual to undergo predictive testing relies mainly on his understanding of risk, the ability to correctly interpret risk information will be of crucial importance in the future. From a medical perspective, the prevailing approach of professional associations to genetic testing appears reasonable and therefore should not be changed at present.
大多数神经精神疾病的病因都很复杂。发现潜在的遗传学因素将有助于深入了解这些疾病,并基于对因果关系的理解,进而开发出相应的治疗干预措施。阿尔茨海默病(AD)的首批易患基因已被确定。每个易患基因对该疾病的影响有限,无法在个体病例中预测病程和发病情况,仅能改变先验风险。然而,人们可能希望了解这种风险改变情况。由于意识到其局限性和潜在危害,专业人士并不赞成这种形式的预测性检测。然而,对于公众对神经精神疾病基因检测的态度和理解却知之甚少。我们研究的目的是评估普通人群的态度,并探讨疾病知识和风险信息理解对这些态度的影响。在我们的研究中,对德国普通人群的一个代表性样本(n = 2001)、阿尔茨海默病患者的亲属(n = 101)和医生(n = 43)进行了访谈,询问他们对阿尔茨海默病基因检测的态度以及对风险信息的认知和解读。为了评估遗传咨询对这些因素的影响,在向234人提供详细的相关信息之前和之后四周分别对他们进行了询问。我们的结果表明,德国相当一部分人口(57%)总体上赞成针对AD的精神科基因检测。即使基因检测的解释力有限,仍有相当一部分人口(47%)表示对基因检测感兴趣。咨询略微降低了人们自己进行基因检测的意愿(从47%降至38%)。与亲属和普通人群相比,医生对预测性基因检测更为犹豫。只有少数人(11%)赞成产前基因检测。我们的结果还表明,人们对AD的了解以及解读风险估计的能力都很有限。虽然医生对自己患AD的个人风险估计接近人群的实际平均风险,但普通人群和AD患者的亲属往往高估自己的个人风险。然而,大多数普通人群仍然认为这种风险为平均水平或较低。虽然大多数医生能够正确解读关于风险概率的信息,但只有三分之一的AD患者亲属或普通人群能够做到。由于个人决定是否接受预测性检测主要取决于他对风险的理解,因此正确解读风险信息的能力在未来将至关重要。从医学角度来看,专业协会对基因检测的现行做法似乎是合理的,因此目前不应改变。