EBE-EFPIA Position Paper on Next Generation Sequencing (NGS)
Next generation sequencing (NGS), also known as high-throughput sequencing, is a DNA and RNA sequencing technology which has revolutionized genomic research. Today, an entire human genome can be sequenced within a single day using NGS. In contrast, the previous Sanger sequencing technology, used to decode the human genome and enable the discovery of novel genetic alterations causing diseases, required over a decade to deliver the final result.
The joint Personalised Medicine Working Group of the European Biopharmaceutical Enterprises (EBE) and the European Federation of Pharmaceutical Industries and Associations (EFPIA) has developed this position paper to explain, in a first part, the complex technical specifications of testing methodologies based on NGS (p3 to p8). The paper describes the steps performed in NGS (i.e. sample preparation, library generation, sequencing, data analysis and assay validation), providing in one test what was previously available only through multiple analysis, which often lead to the depletion of valuable patient specimens.
The following part of the position paper highlights the regulatory challenges associated with this complex technology and provides concrete recommendations for a way forward (p8 to p13).
Finally, the last part of the paper emphasizes the importance of personal data provided by NGS and the need for special measures to protect the individual’s privacy, as well as special storage (p14 to p15).
NGS technology has transformed medicine through the assessment of patients’ genetic makeup. This technology has the potential to accelerate the early detection of disorders and the identification of pharmacogenetics and pharmacogenomics markers to customize treatments based on patients’ needs. Sequencing analyses is already being used clinically throughout the EU, particularly for guiding oncology treatment selection, and will likely become a central part of the routine diagnostic testing in the near future. However, a number of important issues have to be addressed to improve the development of innovative therapies guided by NGS in Europe. The regulatory challenges highlighted in this position paper have to be considered and discussed at Member States and European levels to ensure that a broader number of patients can access such promising technologies.
The position paper is available here.