THE GENETIC TESTING OF CHILDREN
THE GENETIC TESTING OF CHILDREN
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DOI：
10.1136/jmg.31.10.785
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发表时间：
1994-10-01
影响因子：
4
通讯作者：
CLARKE, A
中科院分区：
文献类型：
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作者：
CLARKE, A
(2)相反，工作组认为，如果儿童是健康的，并且没有确定在阳性测试结果的情况下可以提供的有用的医疗干预措施，则通常不应对成人发病性障碍进行预测性测试。我们通常建议不要进行此类测试，除非有明确和不寻常的支持理由。这并不意味着我们建议家庭应该避免与年幼的孩子讨论这个问题，而是正式的基因检测应该一般地等到“孩子”作为自主的成年人要求进行这种检测。这种对自主权和保密性的尊重将意味着推迟检测，直到该人成年，或者不仅能够理解该问题的遗传事实，而且能够理解各种可能的检测结果的情感和社会后果。在考虑进行这种检测的情况下，应该在家庭内部以及父母和遗传健康专业人员（临床遗传学家或非医学遗传咨询师）之间进行充分的讨论;疾病越严重，支持检测的论据就越强。(3)对于某些疾病，没有足够的证据来确定儿童期的诊断是否有助于对可能（尚未）受影响的儿童进行医疗管理。这些领域的研究将是有价值和重要的。然而，在计划进行这类研究时，重要的是要纳入对基因检测的社会和心理评估，以及技术和更严格的医学评估，因为如果医疗效益仍然不确定或被证明是次要的，心理社会评估的结果可能在未来的临床判断中至关重要。此外，对这些疾病进行测试的心理社会研究，如果存在可能的医疗益处，证明测试的研究是合理的，可能会揭示测试对其他疾病可能产生的心理社会影响。
(2) In contrast, the working party believes that predictive testing for an adult onset disorder should generally not be undertaken if the child is healthy and there are no medical interventions established as useful that can be offered in the event of a positive test result. We would generally advise against such testing, unless there are clear cut and unusual arguments in favour. This does not entail our recommending that families should avoid discussing the issues with younger children, but rather that formal genetic testing should gen-erally wait until the" children" request such tests forthemselves, as autonomous adults. This respect for autonomy and confidentiality would entail the deferral of testing until the person is either adult, or is able to appreciate not only the genetic facts of the matter but also the emotional and social consequences of the various possible test results. In circumstances when this type oftesting is being contemplated, there should be full discussions both within the family and between parents andgenetic health professionals (clinical geneticists or non-mecical genetic coun-sellors); the more serious the disorder, the stronger the arguments in favour oftesting would need to be.(3) For some disorders, there is insufficient evidence to know whether a diagnosis in childhood is helpful in the medical management of the possibly (not yet) affected child. Research in these areas will be worthwhile and important. When such research is planned, however, it will be important to incorporate a social and psychological evaluation of the genetic testing, as well as a technical and more strictly medical evaluation, becausethe results of the psy-chosocial evaluation may be critical in future clinical judgements if the medical benefits re-main uncertainor are shown to be minor. Furthermore, the psychosocial study of testing for these conditions, where the existence of possible medical benefits justifies the study of the testing, may throw light upon the likely psychosocial effects of testing for other dis-