Meiser Bettina, Kasparian Nadine A, Mitchell Philip B, Strong Kimberly, Simpson Judy M, Tabassum Laila, Mireskandari Shab, Schofield Peter R
Psychosocial Research Group, Prince of Wales Hospital, Randwick, Australia.
Genet Test. 2008 Jun;12(2):233-43. doi: 10.1089/gte.2007.0100.
This study assesses interest in genetic testing for gene variations associated with bipolar disorder and associated information needs.
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.
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.
The possibility of ascertainment bias cannot be ruled out. Interest in hypothetical genetic testing for bipolar disorder may not necessarily translate into actual utilization.
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.
本研究评估了对与双相情感障碍相关的基因变异进行基因检测的兴趣以及相关的信息需求。
使用邮寄的自填式问卷，对来自有多例双相情感障碍患者的家庭中的200个人（95名未患病者以及105名患有双相情感障碍、分裂情感障碍——躁狂型或复发性重度抑郁症的患者）进行了评估。
报告对基因检测感兴趣的参与者百分比与任何检测显示双相情感障碍发病的确定性程度相关。在终生患病风险为25%的情况下，对基因检测的兴趣最低（77%的参与者表示感兴趣），而在终生患病风险为100%的情况下兴趣最高（92%）。80%的参与者表示对自己孩子进行基因检测感兴趣；其中30%报告希望在孩子出生时进行检测，33%希望在幼儿期进行检测。41%的参与者报告他们会对植入前基因诊断感兴趣，54%对产前检测感兴趣。
不能排除确定偏倚的可能性。对双相情感障碍假设性基因检测的兴趣不一定会转化为实际应用。
这些结果表明，对于与双相情感障碍相关的低风险等位基因进行基因分型的基因检测的接受程度可能低于对遵循孟德尔遗传的高 penetrance 基因突变的检测。对孩子进行检测的期望年龄与当前接受做法之间的差异可能会给父母和健康专业人员都带来困扰和冲突。
