Many parents are motivated to pursue genome-wide (exome or genome) sequencing to find a diagnosis for their child with a suspected but undiagnosed genetic condition. However, the impact of the genomic test extends beyond the provision of results and the so-called ‘diagnostic odyssey’. Our goal was to quantify post-test decisional regret and characterize long-term, post-test experiences and unmet needs of the parents of children with suspected genetic diseases after they had received the results of genome-wide sequencing. Study participants were parents of children who underwent trio genome-wide sequencing as part of the CAUSES research study at Children's & Women's Health Centre of British Columbia. About half of the participants received a definite or likely genetic diagnosis after clinical interpretation of the genome-wide sequencing results. Parents who participated in the current study (n = 121) completed the Decisional Regret Scale four weeks after receiving results. A subset of these parents (n = 32) had semi-structured interviews a median of 7 months (range 3–20 months) after results disclosure and post-test genetic counseling. Most parents expressed either no regret or mild regret about having undergone genome-wide sequencing on both the Decisional Regret Scale and in the interviews. Parents whose children did not receive a genetic diagnosis were slightly more likely to have decisional regret on this quantitative scale. Analysis of transcribed interviews revealed the following major themes: (a) a lack of decisional conflict around having the testing; (b) a lack of decisional regret post-testing; (c) expressions of both relief and continued uncertainty around the meaning of a genetic diagnosis; (d) expression of initial disappointment and evolving interpretation surrounding a result yielding no genetic diagnosis; and (e) needing time to absorb the test results. Our results suggest that parents need time to absorb the testing results and that long-term post-test counseling, including acknowledging feelings of relief, loss, and disappointment, may help parents adapt to the genomic test results and assist families to anticipate and plan for the next steps in their child's medical trajectory, whether or not a diagnosis is found.

中文翻译：

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基因组测试结果后：父母的长期观点

许多父母有动力进行全基因组（外显子组或基因组）测序，以便为患有疑似但未确诊的遗传病的孩子找到诊断。然而，基因组测试的影响超出了提供结果和所谓的“诊断奥德赛”的范围。我们的目标是量化测试后的决定性遗憾，并描述疑似遗传病儿童的父母在收到全基因组测序结果后的长期、测试后经历和未满足的需求。研究参与者是孩子的父母，他们在不列颠哥伦比亚省儿童和妇女健康中心接受了三人组全基因组测序，作为 CAUSES 研究的一部分。在对全基因组测序结果进行临床解释后，大约一半的参与者得到了明确的或可能的基因诊断。参加本次研究的家长（n  = 121）在收到结果四周后完成了决策性遗憾量表。这些父母的一个子集（n = 32）在结果披露和测试后遗传咨询后的中位数为 7 个月（范围 3-20 个月）进行半结构化访谈。大多数父母对在决策遗憾量表和访谈中都接受了全基因组测序表示不后悔或轻微后悔。孩子没有接受基因诊断的父母在这个数量级上更容易做出决定性的后悔。对转录访谈的分析揭示了以下主要主题：（a）在进行测试时缺乏决策冲突；(b) 测试后缺乏决定性的后悔；(c) 围绕基因诊断的含义表达了宽慰和持续的不确定性；(d) 最初的失望表达和围绕未产生基因诊断的结果不断演变的解释；(e) 需要时间来吸收测试结果。我们的研究结果表明，父母需要时间来吸收测试结果，而长期的测试后咨询，包括承认宽慰、失落和失望的感觉，可以帮助父母适应基因组测试结果，并帮助家庭预测和计划无论是否找到诊断，他们孩子医疗轨迹的下一步。