罕见病的个体化治疗开发：当前伦理图景与政策回应
Individualized Therapeutics Development for Rare Diseases: The Current Ethical Landscape and Policy Responses
2018年美国首次为一名患极罕见遗传性巴腾病的女孩开发了个体化药物 milasen（基于已获批的反义寡核苷酸技术改造）。此后为极罕见遗传病定制治疗的热情迅速高涨。这类疗法模糊了“研究”与“治疗”的传统界限，带来知情同意可能不充分、利益冲突、以及高昂费用引发的公平性问题。文章梳理这些挑战，呼吁多方利益相关者参与，并提出初步政策回应。
为什么推荐给您：聚焦个体化定制疗法这一新模式带来的全新伦理与监管问题，属值得关注的伦理讨论。
不需要生物学背景，多打比方
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就在2年前，美国实施了第一例个体化治疗。
这个女孩携带一种极其罕见的基因突变，与 Batten 病有关。
患病女孩是接受个体化治疗的患者。
摘要Abstract
The first individualized therapy was administered in the United States just 2 years ago, when milasen, a therapeutic adapted from a Food and Drug Administration (FDA)-approved antisense oligonucleotide technology, was developed for a young girl with an extremely rare genetic mutation associated with Batten disease. Since then there has been an explosion of enthusiasm in developing customized treatments for extremely rare genetic conditions. These interventions raise some of the ethics concerns characteristic of novel therapeutics while simultaneously challenging existing legal, regulatory, and ethical understandings. Their individualized aspect blurs to the point of erasing the historically distinct line separating research from treatment, leading regulators and ethics oversight bodies to reevaluate existing policies. As experimental therapeutics, they raise the potential for both compromised informed consent and conflicts of interest, and their considerable expense provokes serious justice concerns. This article examines these challenges, urges multidisciplinary stakeholder engagement to address them in a transparent and practicable manner, and recommends initial policy responses.