Perceptions regarding Genetic Testing in Populations at Risk for Nephropathy
Perceptions regarding Genetic Testing in Populations at Risk for Nephropathy
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DOI：
10.1159/000356244
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发表时间：
2013-01-01
影响因子：
4.2
通讯作者：
King, Nancy M. P.
中科院分区：
文献类型：
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作者：
Freedman, Barry I.;Fletcher, Alison J.;King, Nancy M. P.
背景：许多肾脏疾病的遗传风险存在基于人群祖先的差异。关于将基因检测结果返还给参与者的问题仍存在实质性辩论。对有终末期肾病风险的非洲裔美国人（AAs）和欧洲裔美国人（EAs）进行了询问，以了解他们对基因检测在研究中的价值和用途的看法。方法：对130名一级亲属接受透析的个体（64名AA，66名EA）进行了关于基因检测态度的标准化调查。Fisher精确检验用于评估不同人群之间参与者态度的差异。结果如下：调查的AA和EA的平均（SD）年龄分别为45.5（12.8）和50.5（14.4）岁（p = 0.04），具有相似的家族关系（p = 0.22）。AA和EA希望知道他们的测试结果，如果风险可能：（1）通过饮食或运动降低（100和98%，p = 0.99）;（2）通过药物治疗降低（100和98%，p = 0.99），或（3）如果没有治疗（90和82%，p = 0.21）。如果被告知他们缺乏疾病易感性变异，87%的AA和88%的EA极有可能或很有可能通知家庭成员（p = 0.84）。如果被告知他们有疾病易感性变异，92%的AA和89%的EA极有可能或很有可能通知他们的家人（p = 0.43）。结论：在研究背景下，对获得和使用疾病基因检测结果的态度在有终末期肾病风险的AA和EA中相似。绝大多数人希望获得信息，无论可用的治疗方法如何，并与家人分享信息。这些结果对患者护理、研究设计和知情同意过程具有重要意义。(C)2013 S. Karger AG，巴塞尔
Background: Population ancestry-based differences exist in genetic risk for many kidney diseases. Substantial debate remains regarding returning genetic test results to participants. African-Americans (AAs) and European-Americans (EAs) at risk for end-stage kidney disease were queried for views on the value and use of genetic testing in research. Methods:A standardized survey regarding attitudes toward genetic testing was administered to 130 individuals (64 AA, 66 EA) with first-degree relatives on dialysis. Fisher's exact test was used to assess differences in participant attitudes between population groups. Results: Mean (SD) age of surveyed AAs and EAs was 45.5 (12.8) and 50.5 (14.4) years, respectively (p = 0.04), with similar familial relationships (p = 0.22). AAs and EAs wished to know their test results if risk could be: (1) reduced by diet or exercise (100 and 98%, p = 0.99); (2) reduced by medical treatment (100 and 98%, p = 0.99), or (3) if no treatments were available (90 and 82%, p = 0.21). If informed they lacked a disease susceptibility variant, 87% of AAs and 88% of EAs would be extremely or pretty likely to inform family members (p = 0.84). If informed they had a disease susceptibility variant, 92% of AAs and 89% of EAs would be extremely or pretty likely to inform their family (p = 0.43). Conclusions: Attitudes toward obtaining and using genetic test results for disease in research contexts were similar in AAs and EAs at risk for end-stage kidney disease. A substantial majority would want information regardless of available treatments and would share the information with the family. These results have important implications for patient care, study design and the informed consent process. (C) 2013 S. Karger AG, Basel