Rehm Heidi L, Hynes Elizabeth, Funke Birgit H
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Boston, MA 02139, USA.
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.
J Pers Med. 2016 Jan 27;6(1):8. doi: 10.3390/jpm6010008.
Over the last decade, the field of molecular diagnostics has undergone tremendous transformation, catalyzed by the clinical implementation of next generation sequencing (NGS). As technical capabilities are enhanced and current limitations are addressed, NGS is increasingly capable of detecting most variant types and will therefore continue to consolidate and simplify diagnostic testing. It is likely that genome sequencing will eventually serve as a universal first line test for disorders with a suspected genetic origin. Academic Medical Centers (AMCs), which have been at the forefront of this paradigm shift are now presented with challenges to keep up with increasing technical, bioinformatic and interpretive complexity of NGS-based tests in a highly competitive market. Additional complexity may arise from altered regulatory oversight, also triggered by the unprecedented scope of NGS-based testing, which requires new approaches. However, these challenges are balanced by unique opportunities, particularly at the interface between clinical and research operations, where AMCs can capitalize on access to cutting edge research environments and establish collaborations to facilitate rapid diagnostic innovation. This article reviews present and future challenges and opportunities for AMC associated molecular diagnostic laboratories from the perspective of the Partners HealthCare Laboratory for Molecular Medicine (LMM).
在过去十年中，在新一代测序（NGS）临床应用的推动下，分子诊断领域经历了巨大变革。随着技术能力的提升以及当前局限性的解决，NGS越来越能够检测大多数变异类型，因此将继续巩固和简化诊断测试。基因组测序最终可能会成为对疑似遗传起源疾病的通用一线检测方法。处于这一范式转变前沿的学术医疗中心（AMC），如今在竞争激烈的市场中面临着跟上基于NGS检测不断增加的技术、生物信息学和解读复杂性的挑战。监管监督的变化也可能带来额外的复杂性，这同样是由基于NGS检测前所未有的范围引发的，这需要新的方法。然而，这些挑战与独特机遇相平衡，特别是在临床和研究操作的交叉点，AMC可以利用对前沿研究环境的访问并建立合作关系，以促进快速的诊断创新。本文从合作伙伴医疗保健分子医学实验室（LMM）的角度，回顾了与AMC相关的分子诊断实验室当前和未来面临的挑战与机遇。
