Preimplantation genetic testing for monogenic disorders (PGT-M) was originally developed to identify embryos affected with serious childhood-onset disorders, but its use has recently broadened. Guidance on the use of PGT-M in the United States (U.S.) is currently limited, with no formal laws or guidelines established on its use. The goals of this study were to determine for which types of conditions U.S. laboratories currently do not offer PGT-M, to explore ethical considerations U.S. laboratory genetic counselors (GCs) take into consideration when deciding to accept or reject a PGT-M request, and to explore whether U.S. laboratory GCs believe PGT-M should be offered for conditions with reduced penetrance or for variants of uncertain significance (VUS). Qualitative analysis of semi-structured interviews with nine genetic counselors, from five different PGT-M laboratories, was conducted. Participants were required to be GCs working at a PGT-M laboratory in the U.S. and either actively counsel patients on PGT-M or determine a patient's eligibility for PGT-M. Two participants reported their separate laboratories have no limitations for allowable PGT-M testing, while the other seven participants representing three other laboratories reported having limitations. The main ethical consideration GCs reported considering when deciding to accept or reject a PGT-M request was patient autonomy, with a focus on the patient understanding risks of the testing. All participants reported believing PGT-M should be allowable for conditions with reduced penetrance and VUS, with all participants stating their respective laboratories allow for this currently. However, all participants reported a lack of sufficient guidelines and that having guidelines from a professional organization would be beneficial to their practice. In conclusion, lack of current guidelines in the United States has created discrepancies between PGT-M laboratories. PGT-M laboratory GCs support the use of PGT-M for conditions with reduced penetrance and VUS with informed consent. The need for guidelines is supported.

中文翻译：

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为外显率降低或意义不确定的变异提供单基因疾病 (PGT-M) 的植入前基因检测：来自美国实验室遗传咨询师的伦理见解

单基因疾病的植入前基因检测 (PGT-M) 最初是为了识别受严重儿童期发病疾病影响的胚胎而开发的，但它的用途最近得到了扩大。目前在美国 (US) 使用 PGT-M 的指南有限，没有关于其使用的正式法律或指南。本研究的目的是确定美国实验室目前不提供 PGT-M 的哪些类型的条件，探索美国实验室遗传顾问 (GC) 在决定接受或拒绝 PGT-M 请求时考虑的伦理考虑，以及探索美国实验室 GC 是否认为应该为外显率降低或意义不确定的变体 (VUS) 提供 PGT-M。对九位遗传咨询师的半结构化访谈的定性分析，来自五个不同的 PGT-M 实验室。参与者必须是在美国 PGT-M 实验室工作的 GC，并且要么积极就 PGT-M 向患者提供咨询，要么确定患者是否符合 PGT-M 的资格。两名参与者报告说，他们各自的实验室对允许的 PGT-M 测试没有限制，而代表其他三个实验室的其他七名参与者报告说存在限制。GC 报告在决定接受或拒绝 PGT-M 请求时考虑的主要伦理考虑是患者自主权，重点是患者了解测试的风险。所有参与者都报告认为 PGT-M 应该允许用于外显率和 VUS 降低的条件，所有参与者都表示他们各自的实验室目前允许这样做。然而，所有参与者都报告说缺乏足够的指导方针，而专业组织的指导方针将有利于他们的实践。总之，美国缺乏现行指南导致 PGT-M 实验室之间存在差异。PGT-M 实验室 GC 支持在知情同意的情况下将 PGT-M 用于外显率降低和 VUS 的情况。支持指南的需要。