Integrating Genomics Technologies and Workflows to Advance Disease Research
NGS workflow solutions enable scientists to focus on more valuable tasks such as interpreting data and making discoveries
Kevin Meldrum is vice president and general manager of Agilent’s integrated genomics division. Agilent provides a broad range of tools for use in diverse genomic profiling including automation, assays, and software analysis tools principally associated with microarray and NGS-based analysis. Kevin returned to Agilent in the GM role in early 2020 after having spent a decade at the company from 1998 to 2008. In the interim, he worked at Thermo Fisher as director of OEM business development for the genetic systems division (2012-2014) and as vice president of marketing at Illumina (2014-2020).
Genomics is the study of the library of genes for a given organism. A genome is an organism's complete set of genetic instructions. From a genome comes the expression of specific genes, often referred to as the transcriptome, which then translates into proteins, making up the proteome. Even further is the metabolome, which is made up of the metabolites that result from the activities of the proteins. In this simplified perspective, genomics is foundational, which makes understanding any disruptions or alterations of the genome that lead to disease invaluable.
Integrated genomics is a growing application area that delivers a comprehensive range of genomic technologies to the scientific community with great potential to impact rare disease and cancer research. Driven by the rapid decline in sequencing cost, next-generation sequencing (NGS) has propelled genomics research forwards. The enhanced understanding provided by NGS transforms the speed of diagnosis for patients, increasing opportunities to tailor clinical management and treatment. Specifically, genomic medicine can revolutionize the health care of an individual with a rare disease or cancer by offering prompt and accurate diagnosis, risk stratification based upon genotype, and the opportunity for personalized treatments.
Genomics, rare diseases, and cancer
The field of genomics, specifically NGS, has significantly contributed to the study and treatment of both rare diseases and cancer and continues to promote the advancement of effective screening, monitoring, and treatments for these diseases. Not only is there a greater understanding of the particularities of different rare diseases and cancers, for example in non-small cell lung cancer, but specific therapies and treatments have also been developed from discoveries in genomics, such as RAS gene profiling for monoclonal antibody treatments for colorectal and other cancers. With a greater understanding of the disease and a greater understanding of a patient’s genome, targeted treatments can be prescribed that can effectively treat the disease while minimizing adverse side effects.
NGS workflow solutions
NGS workflow solutions enable scientists to focus on more valuable tasks such as interpreting data and making discoveries. Without these workflow solutions, scientists would have to piece together and evaluate the different aspects of the workflows themselves, such as learning about automation engineering and programming or reagent and consumables compatibilities. And if any issues arise within an NGS workflow, the lab may struggle to troubleshoot the problem. Therefore, a single workflow solution is ideal.
One of the most valuable solutions is a workflow that incorporates validated instruments, reagents, and software. In addition, comprehensive library preparation kits that use both DNA and RNA optimized for use with either catalog or custom target enrichment probes are both convenient and practical. Ideally, these workflow solutions would include automated electrophoresis instruments for quality control, automated liquid handling for library prep and target enrichment, and secondary and tertiary data analysis. Once in place, these workflows enable scientists to focus on testing their hypotheses with confidence.
Apart from workflow solutions to increase lab efficiencies, another need in genomics research labs is to scale up the number of samples for processing. Many labs process samples manually, which can be prone to error as sample quantity increases. Instruments and systems that provide increased sample throughput capabilities ensure consistent sample quality.
CRISPR and genomics
CRISPR has indeed been a headliner over the past few years. This ground-breaking technology has been applied in many innovative ways and certainly in genomics. Leveraging integrated genomics and advancements in our understanding of the genome through NGS and applying them to further understand and develop CRIPSR technology, it’s not hard to imagine that soon we shall see another inflection point in the advancement of genomics.