Attitudes to genetic testing in families with multiple cases of bipolar disorder
Attitudes to genetic testing in families with multiple cases of bipolar disorder
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DOI：
10.1089/gte.2007.0100
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发表时间：
2008-06-01
期刊：
影响因子：
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通讯作者：
Schofield, Peter R.
中科院分区：
文献类型：
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作者：
Meiser, Bettina;Kasparian, Nadine A.;Schofield, Peter R.
目的：本研究评估了对双相情感障碍相关基因变异基因检测的兴趣和相关信息需求。研究方法：来自多个双相情感障碍病例家庭的200名个体（95名未受影响，105名患有双相情感障碍-躁狂型或复发性重性抑郁症）使用邮寄的自填问卷进行评估。结果如下：报告对基因检测感兴趣的参与者的百分比与任何检测都表明双相情感障碍发展的确定性程度有关。在25%的终生风险情景下，对基因检测的兴趣最低（77%的参与者表示有兴趣），而在100%的终生风险情景下，对基因检测的兴趣最高（92%）。80%的参与者表示有兴趣对自己的孩子进行基因检测;其中30%的人表示希望他们的孩子在出生时进行检测，33%的人在幼儿期进行检测。41%的参与者报告说，他们会对植入前遗传学诊断感兴趣，54%的人对产前检测感兴趣。局限性：不能排除确认偏倚的可能性。对双相情感障碍的假设基因检测的兴趣可能不一定转化为实际利用。结论：这些结果表明，与双相情感障碍相关的低风险等位基因的基因分型的基因检测的吸收可能低于孟德尔遗传的高风险等位基因突变的检测。对儿童进行检测的理想年龄与目前公认的做法之间的差异可能是父母和卫生专业人员的痛苦和冲突的根源。
Objectives: This study assesses interest in genetic testing for gene variations associated with bipolar disorder and associated information needs. Methods: Two hundred individuals (95 unaffected and 105 affected with either bipolar disorder, schizoaffective disorder-manic type, or recurrent major depression) from families with multiple cases of bipolar disorder were assessed, using mailed, self-administered questionnaires. Results: The percentage of participants reporting interest in genetic testing was associated with the degree of certainty with which any test would indicate the development of bipolar disorder. Interest in genetic testing, given a 25% lifetime risk scenario, was lowest (with 77% of participants indicating interest), and highest for the 100% lifetime risk scenario (92%). Eighty percent of participants indicated interest in genetic testing of their own children; of these 30% reported wanting their children tested at birth, and 33% in early childhood. Forty-one percent of participants reported that they would be interested in preimplantation genetic diagnosis, and 54% in prenatal testing. Limitations: The possibility of ascertainment bias cannot be ruled out. Interest in hypothetical genetic testing for bipolar disorder may not necessarily translate into actual utilization. Conclusions: These results indicate that uptake of genetic testing for genotyping for low-risk alleles related to bipolar disorder is likely to be lower than for testing for high-penetrance gene mutations that follow Mendelian inheritance. The discrepancy between the desired age of testing children and the accepted current practice may be a source of distress and conflict for parents and health professionals alike.