Genetic Testing for Huntington Disease in At Risk Adolescents and Young Adults

描述（由申请人提供）：亨廷顿病（HD）是一种晚发性神经精神疾病，以常染色体显性方式遗传，这意味着受影响父母的每个孩子都有50%的机会遗传已知导致亨廷顿病的基因突变。其症状包括运动障碍、导致痴呆的认知能力下降和各种精神疾病。1983年，通过使用限制性内切酶，HD成为第一个被定位到4号染色体上一个以前未知位置的疾病。这一发现意味着一些有HD风险的个体可以了解他们是否会在未来的某个时候患上HD。此后不久，美国亨廷顿病协会（HDSA）和世界神经病学联合会与国际亨廷顿协会合作，发布了预测测试的指导方针。两套指南都建议不要对18岁以下的人进行检测。这项禁止对儿童进行检测的禁令的目的是维护处于危险中的儿童在达到成年年龄时决定是否进行检测的自主权。尽管有这些指导方针，儿童还是接受了测试，而且在未来，儿童测试可能会增加。从发展的角度来看，这种测试发生在社会、情感和认知发生重大变化的时期，因为个人完成了他们的教育，进入了劳动力市场，离开了他们的原生家庭，从第一次恋爱和性关系过渡到更持久的伙伴关系。基因检测可能会干扰这些生命周期的转变，但我们几乎不知道这些孩子和他们的家人是如何决定是否进行检测的，以及一旦进行了检测，他们如何应对结果。本研究的目的是使用混合方法和McAdams的生活故事身份模型来研究有HD风险的青少年和年轻人如何将有HD风险的现实和是否接受测试的决定整合到他们的生活故事中。第二个目标是检查接受测试的个体如何将这些新知识整合到他们的生活故事中。

DESCRIPTION (provided by applicant): Huntington Disease (HD) is a late onset neuropsychiatric disorder that is inherited in an autosomal dominant manner meaning that each child of an affected parent has a 50% chance of inheriting the genetic mutation that is known to cause HD. The symptoms include a movement disorder, cognitive decline leading to dementia and a variety of psychiatric disorders. In 1983, HD became the first disease mapped to a previously unknown location on chromosome 4 through the use of restriction enzymes. This discovery meant that some individuals at risk for HD could learn whether or not they would develop HD at some point in the future. Shortly thereafter, both the Huntington's Disease Society of America (HDSA) and the World Federation of Neurology, in concert with the International Huntington Association, published guidelines for predictive testing. Both sets of guidelines recommended that testing not be done on individuals younger than the age of 18. The goal of this prohibition against testing children was to preserve the autonomy of the at risk child to decide whether or not to be tested when he or she reached the age of majority. Despite these guidelines, children have been tested and testing in children is likely to increase in the future. Developmentally, this testing occurs at a time of great social, emotional, and cognitive change as individuals finish their education, enter the workforce, leave their families of origin and transition from first romantic and sexual relationships to more enduring partnerships. Genetic testing may interfere with these life cycle transitions but we know next to nothing about how these children and their families make the decision whether or not to be tested or how they cope with the results once testing has occurred. The goal of this study is to use a mixed methods approach and McAdams's life story model of identity to examine how adolescents and young adults at risk for HD integrate the reality of being at risk for HD and the decision whether or not to be tested into their life story. The secondary goal is to examine how individuals who have been tested integrate this new knowledge into their life story.