Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.
Impact of a genetic diagnosis of a mitochondrial disorder 5-17 years after the death of an affected child.
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DOI：
10.1007/s10897-007-9145-9
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发表时间：
2008-06-01
影响因子：
1.9
通讯作者：
Metcalfe, S A
中科院分区：
文献类型：
--
作者：
Sexton, A C;Sahhar, M;Metcalfe, S A
这项研究使用深入访谈来探索父母的经历，这些父母在患有线粒体疾病的孩子去世多年后重新接触了新的遗传结果。在孩子患病时，父母同意采集组织样本以帮助诊断疑似线粒体疾病，随后进一步的DNA检测确定了遗传原因。家长们没有对再次接触新信息表示负面情绪，并希望继续研究可能会帮助其他家庭。积极的方面包括减轻对儿童疾病原因的内疚感，并为幸存儿童提供准确的遗传信息。困难的情感和心理社会影响包括与先前关于遗传的信念相矛盾，决定如何以及何时向幸存的孩子传达信息，以及如果确定了线粒体DNA中的基因，应对对母亲健康的新恐惧。在一半的家庭中，新结果显着改变了父母对遗传模式的理解。这项研究强调了延迟几年后提供的新遗传信息的影响，这有可能重新开启悲伤和不确定性的感觉，并可能呈现出一种新的遗传情况，研究参与者或他们的家人对此毫无准备。参与传播遗传研究结果的卫生专业人员可以通过这一过程帮助支持家庭。
This study used in-depth interviews to explore the experiences of parents who were re-contacted with new genetic results many years after the death of a child with a mitochondrial disorder. At the time of their child's illness, parents had consented to a tissue sample being taken to help with diagnosis of a suspected mitochondrial disorder, and subsequently further DNA testing identified the genetic cause. Parents did not express negative feelings about being re-contacted with new information, and hoped that continuing research might help other families. Positive aspects included relief from feelings of guilt over the cause of the child's disorder, and having accurate genetic information available for surviving children. Difficult emotional and psychosocial implications included contradictions to previous beliefs about inheritance, deciding how and when to communicate information to surviving children, and coping with new fears for the mother's health if a gene located in the mitochondrial DNA was identified. In half of the families the new results significantly altered the parents' understanding of the inheritance pattern. This study highlights the impact of new genetic information offered after a delay of several years, which has the potential to re-open feelings of grief and uncertainty and can present a new inheritance scenario for which research participants or their families are unprepared. Health professionals involved in conveying genetic research results can help to support families through this process.