Spanish National Cancer Research Centre.
Clinical Bioinformatics Area of the Fundacio´n Progreso y Salud (Seville).
Brief Bioinform. 2019 May 21;20(3):752-766. doi: 10.1093/bib/bbx144.
Success in precision medicine depends on accessing high-quality genetic and molecular data from large, well-annotated patient cohorts that couple biological samples to comprehensive clinical data, which in conjunction can lead to effective therapies. From such a scenario emerges the need for a new professional profile, an expert bioinformatician with training in clinical areas who can make sense of multi-omics data to improve therapeutic interventions in patients, and the design of optimized basket trials. In this review, we first describe the main policies and international initiatives that focus on precision medicine. Secondly, we review the currently ongoing clinical trials in precision medicine, introducing the concept of 'precision bioinformatics', and we describe current pioneering bioinformatics efforts aimed at implementing tools and computational infrastructures for precision medicine in health institutions around the world. Thirdly, we discuss the challenges related to the clinical training of bioinformaticians, and the urgent need for computational specialists capable of assimilating medical terminologies and protocols to address real clinical questions. We also propose some skills required to carry out common tasks in clinical bioinformatics and some tips for emergent groups. Finally, we explore the future perspectives and the challenges faced by precision medicine bioinformatics.
精准医学的成功取决于从大型、注释良好的患者队列中获取高质量的遗传和分子数据，这些数据将生物样本与全面的临床数据相结合，可以为患者带来有效的治疗方法。由此产生了对新型专业人才的需求，即具有临床领域培训背景的专业生物信息学家，他们可以理解多组学数据，从而改善对患者的治疗干预，并设计优化的篮子试验。在这篇综述中，我们首先描述了专注于精准医学的主要政策和国际倡议。其次，我们回顾了目前正在进行的精准医学临床试验，引入了“精准生物信息学”的概念，并描述了目前正在进行的开创性生物信息学工作，旨在为世界各地的医疗机构实施精准医学工具和计算基础设施。第三，我们讨论了与生物信息学家临床培训相关的挑战，以及迫切需要能够吸收医学术语和协议以解决实际临床问题的计算专家。我们还提出了开展临床生物信息学常见任务所需的一些技能和一些针对新兴团体的建议。最后，我们探讨了精准医学生物信息学的未来展望和面临的挑战。
