儿童心脏病的基因检测应该以家庭为中心，包括咨询

儿童心血管疾病的基因检测应包括检测前后对家庭的咨询, along with support from a specialized team, according to a new report.

美国心脏协会周五在其期刊上发表了这一科学声明 Circulation: Genomic and Precision Medicine. Though previous AHA statements have addressed genetic testing in adults, this is the first to address issues that arise in children.

“人们越来越认识到，基因测试不像简单的血液测试，你得到的答案是‘是’或‘不是’. With this statement, we illustrate some of that complexity, 特别是涉及到从父母传给孩子的心血管疾病," writing group chair Dr. Andrew Landstrom said in a news release. 兰德斯特罗姆是一名儿科心脏病专家，也是杜伦杜克大学医学院儿科和细胞生物学的助理教授, North Carolina.

用于诊断或预测心血管疾病风险的基因检测正在迅速扩大. 当医生根据彻底的心脏病检查结果强烈怀疑孩子患有遗传性心脏病时，就会使用诊断测试. 该测试用于改进临床诊断并帮助决定如何控制病情-例如选择药物或建议改变生活方式.

Risk-predictive testing is used on a child when a close relative, such as a sibling or parent, has a genetic variant associated with a heart condition.

“这并不意味着他们一定会以同样的方式患上这种疾病, or even that they will get the condition at all, just that they are 'at-risk,由于风险增加，他们需要被密切监控," Landstrom said. "Conversely, 如果在家族中发现了导致疾病的变异，而经检测的亲属没有这种变异, 这个人可能不需要在普通人群之外进行额外的随访或筛查."

Gene sequencing also is gaining popularity. 它是用来检测没有怀疑患有心脏病的儿童, but who may have another type of genetic syndrome. The statement includes guidance on when to order genetic sequencing, which has become cheaper and easier to perform.

Before ordering any type of genetic testing, 该声明建议医疗服务提供者考虑将儿童转介到多学科心血管遗传学项目. 这样的团队——通常在大型医疗中心发现——可能包括成人和儿科心脏病专家之间的合作, genetic counselors, geneticists, behavioral health specialists and others.

Before any decisions are made about testing, parents and children, if old enough, should undergo counseling to discuss the benefits and limits of the test. 可能的结果——包括测试可能不确定的可能性——以及护理和费用应该讨论. 该声明还建议家长们了解联邦法律中关于歧视的规定，以及如果发现患有疾病，家庭可能难以获得保险.

兰德斯特罗姆说:“在开始这个过程之前，了解未来的情况很重要。. 在某些情况下，“基因检测可以在60%-75%的情况下确定疾病的可能原因. 在病人的家庭成员中识别这种(基因)变异的存在与否，可以识别出哪些人患有这种疾病, or are not, at risk of developing the same disease. In this situation, gene testing makes sense in most scenarios."

But, Landstrom said, "in some hereditable cardiovascular diseases, 遗传原因尚不清楚，在儿科测试中发现导致这种情况的基因的可能性要低得多. For these diseases, 发现这些不确定意义的变体之一的可能性会使测试难以解释."

该声明还强烈建议进行测试后咨询和随访，以解释结果并计划护理, 以及确定其他家庭成员是否需要进行检测或治疗.

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