Perillat Lucie, McFadyen Andrew, Furlong Patricia, Anderson James
Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada.
Front Med (Lausanne). 2025 Jan 24;12:1493832. doi: 10.3389/fmed.2025.1493832. eCollection 2025.
Bespoke therapies represent a promising tool to address a diverse range of genetic and acquired conditions, offering new hope where conventional treatments have fallen short. With the rapid rise of bespoke therapies, profound ethical and regulatory challenges emerge, making it crucial to establish a comprehensive framework that ensures these treatments reach clinical settings and meet patients' needs as quickly as possible while protecting all parties involved. Although current guidelines are continually evolving to address the range of ethical tensions raised by these therapies, several gaps remain. A significant unresolved question is determining where personalized interventions fall on the research-care continuum and understanding the institutional, regulatory, and ethical implications when custom therapies are classified as research, care, or a mix of both. To address these questions, we introduce a conceptual model alongside practical guidance for the development, administration, and evaluation of individualized therapies, using CRISPR/Cas9-based interventions for Duchenne Muscular Dystrophy as a case study. We argue that the goals of an intervention should be as individualized as the bespoke product itself, tailored to the specifics of each case. Rather than attempting to pinpoint the exact location of an intervention on the continuum, which may be hard to operationalize and have limited utility, our approach focuses on the practical details of how such interventions are administered and the individual component parts of an intervention. It advocates for transparent discussions among all partners to anticipate and adjust various components/parameters along the process of administering individualized interventions. Our paper highlights the most critical of these parameters in (1) the planning and development of individualized therapies in laboratory settings, (2) their regulatory oversight, and (3) evaluation. By discussing these stages and parameters in detail, we aim to provide guidance on how to navigate the ethical complexities inherent to individualized interventions and offer a preliminary framework for balancing the interplay between research objectives and patient care needs. Acknowledging that the scientific rigor and adequacy of any new model must be evaluated, we also identify the types of evidence that are required to validate that our model effectively meets individual and societal needs.
定制疗法是应对各种遗传和后天疾病的一种很有前景的工具,在传统治疗方法失效的情况下带来了新的希望。随着定制疗法的迅速兴起,出现了深刻的伦理和监管挑战,因此建立一个全面的框架至关重要,该框架要确保这些治疗方法尽快应用于临床并满足患者需求,同时保护所有相关方。尽管当前的指南在不断发展,以应对这些疗法引发的一系列伦理冲突,但仍存在一些差距。一个重大的未解决问题是确定个性化干预措施在研究 - 医疗连续统一体中的位置,以及当定制疗法被归类为研究、医疗或两者混合时,理解其制度、监管和伦理影响。为了解决这些问题,我们引入了一个概念模型以及针对个性化疗法的开发、管理和评估的实用指南,并以基于CRISPR/Cas9的杜氏肌营养不良症干预措施为例进行研究。我们认为,干预措施的目标应该像定制产品本身一样个性化,要根据每个病例的具体情况进行调整。我们的方法不是试图确定干预措施在连续统一体中的准确位置(这可能难以实施且效用有限),而是关注此类干预措施如何实施的实际细节以及干预措施的各个组成部分。它提倡所有合作伙伴之间进行透明的讨论,以便在实施个性化干预措施的过程中预测并调整各种组成部分/参数。我们的论文强调了这些参数在(1)实验室环境中个性化疗法的规划和开发、(2)其监管监督以及(3)评估方面最为关键。通过详细讨论这些阶段和参数,我们旨在为如何应对个性化干预措施固有的伦理复杂性提供指导,并为平衡研究目标与患者护理需求之间的相互作用提供一个初步框架。认识到任何新模型的科学严谨性和充分性都必须进行评估,我们还确定了验证我们的模型有效满足个人和社会需求所需的证据类型。