Department of Public and Occupational Health, EMGO Institute for Health and Care Research, VU University Medical Center, Amsterdam, The Netherlands.
BMC Public Health. 2011 Jul 5;11:535. doi: 10.1186/1471-2458-11-535.
This study assessed lay perceptions of issues related to predictive genetic testing for multifactorial diseases. These perceived issues may differ from the "classic" issues, e.g. autonomy, discrimination, and psychological harm that are considered important in predictive testing for monogenic disorders. In this study, type 2 diabetes was used as an example, and perceptions with regard to predictive testing based on DNA test results and family history assessment were compared.
Eight focus group interviews were held with 45 individuals aged 35-70 years with (n = 3) and without (n = 1) a family history of diabetes, mixed groups of these two (n = 2), and diabetes patients (n = 2). All interviews were transcribed and analysed using Atlas-ti.
Most participants believed in the ability of a predictive test to identify people at risk for diabetes and to motivate preventive behaviour. Different reasons underlying motivation were considered when comparing DNA test results and a family history risk assessment. A perceived drawback of DNA testing was that diabetes was considered not severe enough for this type of risk assessment. In addition, diabetes family history assessment was not considered useful by some participants, since there are also other risk factors involved, not everyone has a diabetes family history or knows their family history, and it might have a negative influence on family relations. Respect for autonomy of individuals was emphasized more with regard to DNA testing than family history assessment. Other issues such as psychological harm, discrimination, and privacy were only briefly mentioned for both tests.
The results suggest that most participants believe a predictive genetic test could be used in the prevention of multifactorial disorders, such as diabetes, but indicate points to consider before both these tests are applied. These considerations differ with regard to the method of assessment (DNA test or obtaining family history) and also differ from monogenic disorders.
本研究评估了公众对多因素疾病预测性基因检测相关问题的看法。这些感知问题可能与预测单基因疾病时被认为重要的“经典”问题（如自主性、歧视和心理伤害）不同。在本研究中，以 2 型糖尿病为例，比较了基于 DNA 测试结果和家族史评估的预测性测试的看法。
对 35-70 岁的 45 名个体进行了 8 次焦点小组访谈，其中包括有（n=3）和没有（n=1）糖尿病家族史的个体、这两类个体的混合组（n=2）和糖尿病患者（n=2）。所有访谈均进行了转录，并使用 Atlas-ti 进行了分析。
大多数参与者相信预测测试能够识别出患有糖尿病风险的人群，并激励预防行为。在比较 DNA 测试结果和家族史风险评估时，考虑了不同的动机原因。一些参与者认为 DNA 测试的一个缺点是，他们认为糖尿病的严重程度还不足以进行这种类型的风险评估。此外，一些参与者认为家族史评估对于糖尿病没有用，因为还有其他风险因素，并非每个人都有糖尿病家族史或了解自己的家族史，而且这可能会对家庭关系产生负面影响。与家族史评估相比，个体的自主权更受 DNA 测试的重视。其他问题，如心理伤害、歧视和隐私，仅在两种测试中被简要提及。
结果表明，大多数参与者认为预测性基因测试可用于预防多因素疾病，如糖尿病，但在应用这两种测试之前需要考虑一些问题。这些考虑因素与评估方法（DNA 测试或获取家族史）有关，与单基因疾病也不同。
