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针对成人发病的神经退行性疾病的植入前遗传检测:对获取,利用和咨询的考虑

Rachel A Paul¹, Aaron Baldwin², Kelsey Johnson²

¹From the Department of Neurology (R.A.P., A.B., K.J., S.M.P., T.F.T., M.A., L.D.), University of Pennsylvania, Philadelphia; and Sarepta Therapeutics (T.B.), Cambridge, MA. rachel.paul3@pennmedicine.upenn.edu.

|August 18, 2023

概括

对单一性疾病的植入前遗传检测 (PGT-M) 有助于预防遗传疾病. 神经科医生需要指导方针来与家庭讨论PGT-M因素,如遗传学,接入,成功率和道德.

科学领域:

生殖医学和遗传学
神经学和神经遗传学神经学和神经遗传学

背景情况:

单一性疾病的植入前遗传检测 (PGT-M) 是一种辅助生殖技术,用于预防遗传性单一性疾病.
神经科医生对与患者和家人进行PGT-M讨论的认识和准备越来越需要.
目前缺乏在神经疾病背景下讨论PGT-M的指导方针.

研究的目的:

讨论成人发病神经退行性疾病遗传特征的现状.
突出神经学家和遗传咨询师在与家庭讨论PGT-M时需要考虑的关键因素.
为提供有关PGT-M对单一性神经系统疾病的知情决策提供框架.

主要方法:

对成人发病的神经退行性疾病当前遗传特征的审查.
讨论与PGT-M实施和患者咨询相关的主要因素.
来自神经病学家和专业遗传咨询师的专家见解.

主要成果:

确定了PGT-M讨论的四大类因素:遗传,实用,技术和心理社会/道德.
强调确认遗传诊断和及时结果的重要性.
突出了关于获得 PGT-M 服务,成功率以及预测测试等伦理影响的考虑因素.

结论:

对于那些面临单一性神经疾病风险的家庭来说,PGT-M提供了一个有价值的选择.
解决遗传,实践,技术和心理社会方面的综合咨询至关重要.
建议为神经科医生制定具体的指南,以支持患者的护理.

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