Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX, 77030, USA.
Center for Bioethics, Harvard Medical School, Boston, MA, 02115, USA.
J Assist Reprod Genet. 2024 May;41(5):1221-1231. doi: 10.1007/s10815-024-03074-0. Epub 2024 Mar 12.
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.
Qualitative thematic analysis of semi-structured interviews with US-based REIs and IVF patients.
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.
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.
我们探讨并比较了生殖内分泌学和不孕不育专家（REIs）与体外受精（IVF）患者对多基因胚胎筛查（PES）的看法，这是一种新型的胚胎植入前筛查，用于评估未来出现多基因疾病和特征的遗传几率。
对美国的 REIs 和 IVF 患者进行半结构化访谈的定性主题分析。
尽管临床医生往往会对其持有的积极态度提出具体的警告，但他们通常对筛查胚胎的身体或精神状况持有利观点。与患者相比，临床医生对筛查胚胎的特征表达出更多的负面观点，而患者普遍持有更积极的观点。大多数临床医生要么不愿意与患者讨论或提供 PES，要么只在某些情况下愿意提供，而许多患者对 PES 表示有兴趣。两个利益相关者群体都设想了 PES 的多种潜在益处或用途，并提出了与 PES 相关的多个潜在的、相互关联的问题。
临床医生和患者对 PES 的态度存在差距；临床医生普遍对这种筛查持保留态度，而患者则表示有兴趣。临床医生和患者有时会想象使用 PES 来为易患或“受影响”个体的出生做准备，这种理由通常与产前检测有关。尽管条件和特征之间有时界限模糊，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 这一不确定领域。
