Kang Su Lim, Kwon Ji Yean, Kim Sung Min
Department of Medical Device and Healthcare, Dongguk University-Seoul 26, Pil-dong 3-ga, Jung-gu, Seoul 04620, Republic of Korea.
Department of Regulatory Science for Bio-Health Medical Device, Dongguk University-Seoul 26, Pil-dong 3-ga, Jung-gu, Seoul 04620, Republic of Korea.
Life (Basel). 2024 Oct 23;14(11):1358. doi: 10.3390/life14111358.
Molecular profiling based on genomic mutations provides clinically important diagnostic and prognostic information. Companion diagnostic (CDx) testing, which is based on targeted drug therapy, is being applied to a variety of molecular diagnostic techniques (e.g., fluorescent in situ hybridization-FISH; polymerase chain reaction-PCR; and next-generation sequencing-NGS) to diagnose complex etiologies using a minimal number of specimens, replacing immunohistochemical analysis, which may show bias at certain stages. The safety and effectiveness of CDx testing using molecular diagnostic technology in precision medicine is an important factor in determining the treatment outcome and prognosis of patients. Meeting minimum safety and effectiveness performance standards is essential for CDx testing, and a thorough understanding of regulatory considerations is necessary to plan and design the optimal product. In this review, we focus on the diagnostic field of precision medicine and discuss the safety and effectiveness that each molecular diagnostic technology must meet according to CDx testing diversity.
基于基因组突变的分子谱分析可提供具有临床重要性的诊断和预后信息。伴随诊断（CDx）检测基于靶向药物治疗，正应用于多种分子诊断技术（如荧光原位杂交-FISH；聚合酶链反应-PCR；以及新一代测序-NGS），以使用最少数量的样本诊断复杂病因，取代可能在某些阶段显示出偏差的免疫组织化学分析。在精准医学中，使用分子诊断技术进行CDx检测的安全性和有效性是决定患者治疗结果和预后的重要因素。满足最低安全性和有效性性能标准对CDx检测至关重要，全面了解监管考量对于规划和设计最佳产品是必要的。在本综述中，我们聚焦于精准医学的诊断领域，并根据CDx检测的多样性讨论每种分子诊断技术必须满足的安全性和有效性。
