The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments
The personal utility and uptake of genomic sequencing in pediatric and adult conditions: eliciting societal preferences with three discrete choice experiments
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DOI：
10.1038/s41436-020-0809-2
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发表时间：
2020-05-06
影响因子：
8.8
通讯作者：
Boughtwood, Tiffany
中科院分区：
文献类型：
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作者：
Goranitis, Ilias;Best, Stephanie;Boughtwood, Tiffany
目的评估基因组测序(GS)在儿童和成人发病的遗传疾病中的个体实用性和接受性。方法设计3个离散选择实验(DCE)调查，对澳大利亚公众中具有代表性的样本进行分离。采用贝叶斯D-有效显式部分轮廓设计。选择数据使用面板误差分量随机参数Logit模型进行分析。结果总共有1913名参与者完成了儿科调查(n=533)、有症状成人调查(n=700)和高危成人调查(n=680)。根据基因组信息的益处，儿科条件下对GS信息的支付意愿估计为5470-15250美元(3830-10675美元)。摄取率在60%到81%之间。对于有症状的成年人，GS的价值估计为1573-8102美元(1100-5671美元)，摄取率为34-82%。对于高危成人，GS的价值为2036-5004美元(1425-3503美元)，摄取率预计为35%-61%。结论GS有相当大的个人效用，尤其是对儿科疾病。个人效用随着基因组信息所感知的益处的增加而增加。临床和管理环境以及个人的社会人口学和态度特征影响GS的价值和吸收。协会高度重视GS的诊断、临床和非临床益处。在卫生保健决策中应考虑GS的个人效用。
Purpose To estimate the personal utility and uptake of genomic sequencing (GS) across pediatric and adult-onset genetic conditions. Methods Three discrete choice experiment (DCE) surveys were designed and administered to separate representative samples of the Australian public. Bayesian D-efficient explicit partial profile designs were used. Choice data were analyzed using a panel error component random parameter logit model. Results Overall, 1913 participants completed the pediatric (n = 533), symptomatic adult (n = 700) and at-risk adult (n = 680) surveys. The willingness-to-pay for GS information in pediatric conditions was estimated at $5470-$15,250 (US$3830-$10,675) depending on the benefits of genomic information. Uptake ranged between 60% and 81%. For symptomatic adults, the value of GS was estimated at $1573-$8102 (US$1100-$5671) and uptake at 34-82%. For at-risk adults, GS was valued at $2036-$5004 (US$1425-$3503) and uptake was predicted at 35-61%. Conclusion There is substantial personal utility in GS, particularly for pediatric conditions. Personal utility increased as the perceived benefits of genomic information increased. The clinical and regulatory context, and individuals' sociodemographic and attitudinal characteristics influenced the value and uptake of GS. Society values highly the diagnostic, clinical, and nonclinical benefits of GS. The personal utility of GS should be considered in health-care decision-making.