Laboratoire d'Economie de Dijon, Université Bourgogne, Franche-Comté, France.
Laboratoire d'Economie de Dijon, Université Bourgogne, Franche-Comté, France.
Soc Sci Med. 2018 Oct;214:125-132. doi: 10.1016/j.socscimed.2018.08.015. Epub 2018 Aug 21.
The information to which whole genome sequencing (WGS) provides access raises questions about its disclosure to patients. The literature focused on the nature of findings, shows patients share the same expectations while evoking possible heterogeneity. Our objective is to test this hypothesis of preference heterogeneity with respect to the disclosure of results from WGS by means of a discrete choice experiment (DCE). Our DCE includes six attributes for studying preferences with respect to (1) variants of unknown significance and (2) secondary findings, and more innovatively with respect to (3) repeat analysis of the tests, (4) the decision-making process, (5) patient support and (6) the cost of testing. The survey was conducted at two genetic centres in France from February to December 2015 and included 528 parents of patients with development disorders with no aetiological diagnosis. By using a latent class model, it was possible to identify two preference profiles with parents opting for either a prospective (75% of sample) or a targeted (25%) diagnostic approach. The former valued the exhaustive and diverse genetic information the test can provide, even when the information is uncertain or not directly related to their child's illness; the latter valued only the least uncertain information relating to their child's illness. Understanding patients' preference patterns can help professionals to better accommodate and support patients and enables policy-makers to measure the diversity of expectations in the face of current developments in genomic medicine.
全基因组测序（WGS）提供的信息引发了关于向患者披露这些信息的问题。文献主要关注发现的性质，表明患者有相同的期望，同时也引发了可能的异质性。我们的目标是通过离散选择实验（DCE）来检验 WGS 结果披露方面的这种偏好异质性假设。我们的 DCE 包括六个属性，用于研究对（1）意义不明的变异体和（2）次要发现的偏好，以及更具创新性地研究（3）测试的重复分析、（4）决策过程、（5）患者支持和（6）测试成本。该调查于 2015 年 2 月至 12 月在法国的两个遗传中心进行，共纳入 528 名患有发育障碍且无病因诊断的患者的父母。通过使用潜在类别模型，可以识别出两种偏好模式，一种是前瞻性（样本的 75%），另一种是靶向性（25%）诊断方法。前者重视测试可以提供的详尽而多样化的遗传信息，即使这些信息是不确定的或与他们孩子的疾病没有直接关系；后者只重视与他们孩子疾病最相关的最不确定的信息。了解患者的偏好模式可以帮助专业人员更好地适应和支持患者，并使决策者能够在面对当前基因组医学的发展时衡量预期的多样性。
