Purpose

We explored and compared perspectives of reproductive endocrinology and infertility specialists (REIs) and in vitro fertilization (IVF) patients regarding polygenic embryo screening (PES), a new type of preimplantation screening that estimates the genetic chances of developing polygenic conditions and traits in the future.

Methods

Qualitative thematic analysis of semi-structured interviews with US-based REIs and IVF patients.

Results

Clinicians and patients often held favorable views of screening embryos for physical or psychiatric conditions, though clinicians tended to temper their positive attitudes with specific caveats. Clinicians also expressed negative views about screening embryos for traits more frequently than patients, who generally held more positive views. Most clinicians were either unwilling to discuss or offer PES to patients or were willing to do so only under certain circumstances, while many patients expressed interest in PES. Both stakeholder groups envisioned multiple potential benefits or uses of PES and raised multiple potential, interrelated concerns about PES.

Conclusion

A gap exists between clinician and patient attitudes toward PES; clinicians generally maintained reservations about such screening and patients indicated interest in it. Clinicians and patients sometimes imagined using PES to prepare for the birth of a predisposed or “affected” individual—a rationale that is often associated with prenatal testing. Many clinicians and patients held different attitudes depending on what is specifically screened, despite the sometimes blurry distinction between conditions and traits. Considerations raised by clinicians and patients may help guide professional societies in developing guidelines to navigate the uncertain terrain of PES.

中文翻译：

---

患者对多基因胚胎筛查的兴趣和临床医生的保留：利益相关者观点的定性研究

目的

我们探讨并比较了生殖内分泌和不孕不育专家 (REI) 以及体外受精 (IVF) 患者对多基因胚胎筛查 (PES) 的看法，多基因胚胎筛查 (PES) 是一种新型的植入前筛查，可估计未来发展多基因状况和性状的遗传机会。

方法

对美国 REI 和 IVF 患者进行半结构化访谈的定性主题分析。

结果

临床医生和患者通常对筛查胚胎的身体或精神状况持积极态度，尽管临床医生倾向于通过特定的警告来缓和他们的积极态度。临床医生也比患者更频繁地表达对胚胎性状筛查的负面看法，而患者通常持有更积极的看法。大多数临床医生要么不愿意向患者讨论或提供PES，要么只在某些情况下才愿意这样做，而许多患者表示对PES感兴趣。两个利益相关者团体都设想了 PES 的多种潜在好处或用途，并对 PES 提出了多种潜在的、相互关联的担忧。

结论

临床医生和患者对 PES 的态度存在差距；临床医生普遍对此类筛查持保留态度，而患者则表示对此感兴趣。临床医生和患者有时会想象使用 PES 为易感或“受影响”个体的出生做准备——这一原理通常与产前检测相关。尽管有时病情和特征之间的区别很模糊，但许多临床医生和患者根据具体筛查的内容持有不同的态度。临床医生和患者提出的考虑因素可能有助于指导专业协会制定指南，以应对 PES 的不确定领域。