Since their commercialization in the early 2000s, next-generation sequencing (NGS) technologies have become the predominant sequencing tools in genomic research laboratories, and they are moving ever more rapidly into the clinical setting. NGS delivers low-cost, high-throughput sequencing and has opened up population-scale genomic research. The technique’s application and resulting data offer unprecedented opportunities for genomicists and biomedical scientists to make deeper connections between the biology and the successful treatment of conditions such as cancer and rare diseases.
Access to such large-scale sequencing information is accelerating the development of precision or personalized medicine approaches, including diagnostic tests and individualized treatments. Advances in genomics are helping researchers identify the causes of genetic conditions and their underlying mechanisms, with the emerging discipline of genomic medicine now making use of individuals’ genomic information as part of their clinical care. In fields such as cancer research, NGS is supporting the development of diagnostic and prognostic biomarkers that have the potential to replace invasive tissue biopsies.
NGS technologies are clearly a driving force in the field of genomics research, resulting in groundbreaking discoveries and new applications. However, the need to effectively manage and store the copious amounts of data generated presents some significant challenges. Such data is often highly sensitive, requiring careful management and storage in line with regulatory expectations around data integrity and security. To meet regulatory obligations and to maximize the utility of data, organizations are increasingly turning to the latest cloud-based informatics platforms.
Meeting the management challenges posed by NGS data
Given the potential of genomic medicine to advance personalized treatment strategies, growing numbers of pharmaceutical and biotechnology organizations are increasing their focus on NGS techniques. At the same time, regulatory authorities around the world are more closely scrutinizing pharmaceutical data, with data integrity infringements often found to be the result of poor data management practices. With complex NGS studies generating large volumes of data, robust data management strategies that enable appropriate access while maintaining integrity and security are an absolute requirement for success, and they must address a number of key concerns.
Critically, organizations need robust and reliable solutions for managing complex sequencing workflows and emerging techniques in a compliant manner. Having the ability to understand the current volume of work and assay statuses is essential. Equally important is that the data management solutions employed must be flexible enough to support evolving workflows, the expanding volume of sequencing data, and organizational growth.
Since genomic studies generate large amounts of highly individualized sequencing data, safeguarding data security and patient privacy are of paramount importance. Chain of custody records must be accurate and up to date to ensure sample integrity and security. Additionally, it must be easy to search and recall all this sensitive information for audit purposes.
Furthermore, with the pharmaceutical industry participating in growing numbers of multidisciplinary and collaborative genomic research projects, any data management solution must support seamless sharing between teams and organizations, avoiding the creation of data silos.
Cloud-based informatics: A scalable solution for managing NGS data
In recent years, organizations have looked increasingly to laboratory information management systems (LIMSs) to address the data challenges they face. These systems work behind the scenes to simplify data management and streamline processes, generating a positive return on investment with low total cost of ownership. Today, extensible cloud-based informatics platforms deliver even greater flexibility and provide a data management infrastructure that supports workflows across an entire organization, making it easier to collect, store, access, share, and use scientific information.
Cloud-based informatics platforms offer a highly practical solution for handling NGS data. They simplify information management by bringing data into a single integrated platform that automates data acquisition, enables complex data analysis, and stores the data in an organized, searchable format. Since experimental data is immediately organized and available, researchers can access it quickly, for timely and informed decision-making. This level of automation also eliminates many manual processes so that the highest levels of accuracy, consistency, and completeness are achieved.
The flexibility and scalability of cloud-based informatics platforms make them truly powerful tools for NGS data management of precision medicine research. Organizations can easily grow their capabilities, adding greater capacity without needing to invest significant time and resources in developing, validating, and maintaining internal IT hardware and software.
Simplifying data sharing while supporting compliance
The rapid advances being made in precision medicine rely on researchers having easy access to large volumes of patient-specific data, such as that generated by NGS, which needs to be available in an organized, managed, and interpretable format. Data sharing within multidisciplinary teams is critical to success but must take place securely in an environment that ensures full accountability and traceability. Modern cloud-based informatics platforms, such as Thermo Fisher Platform for Science software, provide an environment that delivers immediate, secure access to data, workflows, and applications, with software that can be configured to fit the needs of any organization.
The integration of workflows and data into a single digital ecosystem that centralizes data storage makes secure global sharing both simple and convenient. Authorized personnel can access the information at any time, having confidence that even the latest experimental data is immediately available. Such real-time access to organized data that can be readily interrogated strongly supports the collaborative work taking place and is playing a key role in accelerating scientific discovery.
The latest systems record all user interactions within the platform to provide a detailed audit trail of events from data collection right through to reporting. Some solutions offer powerful search functionality that can ensure the fast recall of specific actions for review purposes. This enables the rapid identification and actioning of any unusual or noncompliant behavior.
NGS technologies have brought high-throughput sequencing into the scientific mainstream to the benefit of genomic research. As a result, growing numbers of organizations are faced with the challenge of storing and handling the sensitive data generated by NGS for their precision medicine research.
Digital solutions are providing the necessary support, with cloud-based informatics platforms delivering a flexible and scalable approach to managing NGS data. These platforms enhance genomic research by managing the volume of data made available by the technique, ensuring its integrity and security while at the same time enabling real-time access to relevant parties for effective sharing and collaboration. Ultimately, cloud-based informatics platforms are now key to unlocking the full potential of genomic data for the future development of new diagnostics and treatments for a wide range of diseases.
Cheryl Moody Bartel, PhD, is senior director, product development, digital science at Thermo Fisher Scientific.