Wu Yelena P, Mays Darren, Kohlmann Wendy, Tercyak Kenneth P
Division of Public Health, Department of Family & Preventive Medicine, University of Utah, 375 Chipeta Way, Suite A, Salt Lake City, UT, 84108, USA.
Huntsman Cancer Institute, Salt Lake City, UT, USA.
J Genet Couns. 2017 Oct;26(5):887-893. doi: 10.1007/s10897-017-0105-8. Epub 2017 May 25.
Predispositional genetic testing among minor children is intensely debated due to the potential benefits and harms of providing this type of genetic information to children and their families. Existing guidelines on pediatric genetic testing state that predispositional testing could be appropriate for minors if preventive services exist that mitigate children's risk for or severity of the health condition in question. We use the example of hereditary melanoma to illustrate the rationale for and potential application of genetic risk communication for an adult-onset cancer to a pediatric population where childhood behaviors may reduce risk of disease later in life. We draw from the adult melanoma genetic risk communication and pediatric health behavior change literatures to suggest ways in which genetic test reporting and complementary education could be delivered to children who carry a hereditary risk for melanoma and their families in order to foster children's engagement in melanoma preventive behaviors. Genetic discoveries will continue to yield new opportunities to provide predispositional genetic risk information to unaffected individuals, including children, and could be delivered within programs that provide personalized and translational approaches to cancer prevention.
由于向儿童及其家庭提供此类基因信息存在潜在益处和危害，因此对年幼儿童进行易感性基因检测引发了激烈争论。现有的儿科基因检测指南指出，如果存在预防服务能够降低儿童患相关健康状况的风险或减轻其严重程度，那么易感性检测对未成年人可能是合适的。我们以遗传性黑色素瘤为例，来说明将成人发病癌症的基因风险告知传达给儿童群体（其中儿童期行为可能降低日后患疾病风险）的基本原理和潜在应用。我们借鉴成人黑色素瘤基因风险告知和儿科健康行为改变的文献，提出可以向携带黑色素瘤遗传风险的儿童及其家庭提供基因检测报告及补充教育的方式，以促进儿童参与黑色素瘤预防行为。基因发现将继续带来新的机会，向包括儿童在内的未受影响个体提供易感性基因风险信息，并且可以在提供个性化和转化性癌症预防方法的项目中进行传达。
