Brandeis University, Department of Sociology, MS 071, Waltham, MA 02454-9110, USA.
Soc Sci Med. 2011 Sep;73(5):645-54. doi: 10.1016/j.socscimed.2011.06.043. Epub 2011 Jul 23.
Substantial progress has been made in identifying genes that raise risk for epilepsy, and genetic testing for some of these genes is increasingly being used in clinical practice. However, almost no empirical data are available from the perspective of people with epilepsy and their family members about the impact of genetic information and potential benefits and harms of genetic testing. To address this gap we conducted in-depth qualitative interviews with 40 individuals (22 with epilepsy, 18 unaffected) in the USA from families containing multiple affected individuals who had participated in epilepsy genetics research. The interviews were coded and analyzed using the principles of grounded theory. Several major themes emerged from these interviews. Participants expressed "personal theories of inheritance" that emphasized commonalities among relatives and the idea that disease risk is most shared by family members who share physical or personality traits. Most participants said they would have genetic testing if it were offered. They cited many potential benefits, including learning what caused epilepsy in their family, being better able to care and advocate for children at risk, reducing guilt and blame, providing an increased sense of control, and relieving anxiety in unaffected individuals who test negative. The influence of genetic information on reproduction was a particularly salient theme. Although respondents believed genetic testing would be useful for informing their reproductive choices, they also expressed fear that it could lead to external pressures to modify these choices. Other concerns about the potential negative impact of genetic information included increased blame and guilt, increased stigma and discrimination in employment and insurance, self-imposed limitations on life goals, and alterations in fundamental conceptions of "what epilepsy is." Consideration of the perspectives of people with epilepsy and their family members is critical to understanding the implications of contemporary epilepsy genetic research and testing.
在确定导致癫痫风险的基因方面已经取得了重大进展，并且越来越多地在临床实践中对其中一些基因进行遗传测试。然而，从癫痫患者及其家庭成员的角度来看，几乎没有关于遗传信息的影响以及遗传测试的潜在益处和危害的经验数据。为了填补这一空白，我们对美国的 40 名个体（22 名癫痫患者，18 名未受影响者）进行了深入的定性访谈，这些个体来自包含多个受影响个体的家庭，他们参与了癫痫遗传学研究。使用扎根理论的原则对访谈进行了编码和分析。这些访谈中出现了几个主要主题。参与者表达了“个人遗传理论”，强调了亲属之间的共性，以及疾病风险最容易被具有身体或个性特征相似的家庭成员共享的想法。大多数参与者表示，如果提供的话，他们会进行遗传测试。他们列举了许多潜在的好处，包括了解是什么导致了他们家庭中的癫痫，更好地照顾和为有风险的孩子辩护，减少内疚和指责，提供更多的控制感，并减轻未受影响的个体的焦虑感，这些个体的测试结果为阴性。遗传信息对生殖的影响是一个特别突出的主题。尽管受访者认为遗传测试将有助于告知他们的生殖选择，但他们也表达了担心这可能会导致外部压力来修改这些选择。对遗传信息潜在负面影响的其他担忧包括增加指责和内疚，在就业和保险方面增加耻辱和歧视，对生活目标的自我限制，以及对“癫痫是什么”的基本概念的改变。考虑癫痫患者及其家庭成员的观点对于理解当代癫痫遗传学研究和测试的意义至关重要。
