Automating NGS Library Preparation: Key to Enhance Research in Healthcare

27 Sep 2022

Efficient and deep research in the healthcare industry is of great value to society. It can offer crucial information on chronic illnesses, risk factors, treatment outcomes or public health actions, functional skills, care patterns, costs, and utilization of healthcare services.

It is the result of extensive research and development activities in the field of medical science that the healthcare industry has progressed enormously. Today, healthcare professionals are able to apply advanced technologies such as artificial intelligence and machine learning in the diagnosis as well as treatment procedures for patients. 

This advancement has enabled the experts to reach the root cause of diseases at the genomic level and find solutions to complex health problems. The next-generation sequencing (NGS) technology is one such example of the genomic studies that have enabled the onset of precision medicine for cancer treatment

NGS is a technique for figuring out deoxyribonucleic acid (DNA) or ribonucleic acid (RNA) sequences to investigate genetic variation linked to diseases or other biological events. This is an extensive research procedure that involves intricate sampling and analysis of gathered DNA and RNA samples.

The process of turning native DNA into a barcoded library is extremely complex as well as a time and resource-intensive task. The prepared library is also prone to mistakes, and a single inaccuracy could taint all the test results. 

As a result, many businesses are forced to outsource their NGS sample preparation and testing process. Specialist automation solutions, such as integrated microfluidic systems or liquid handling equipment, can be used to resolve this. These automated techniques for preparing libraries for next-generation sequencing can reduce errors while saving time and money.


Figure 1 NGS library preparation automation workflow

Making the leap from manual to automated NGS library preparation has many advantages. Automated library preparations are more effective, quicker, and less prone to human error. Additionally, they are more dependable and constant while being less prone to contamination. Adopting these automated tools can improve quality and aid in process optimization. 

The next-generation sequencing market is being driven by the rapid advancement of numerous scientific sectors. However, inadequate analytic pipelines and low library quality are the main drawbacks of NGS data. This can be improved by optimizing and raising the standard of NGS library preparation.

The most difficult and error-prone stage in the entire NGS sequencing process is NGS library preparation. As a result, optimizing it is crucial but also difficult because it requires several procedures that run the risk of introducing contamination and user variability.

Owing to the increasing demand for next-generation sequencing, the global NGS library preparation automation market is expected to grow significantly. 

According to the BIS Research report, the global NGS library preparation automation market was valued at $1,273.2 million in 2021, and it is expected to reach $3,803.3 million by 2029, growing at a CAGR of 14.85% during the forecast period 2022-2029. 

Impact of NGS Library Preparation Automation on Research in Healthcare

The NGS technology allows for extremely high throughput, scalability, and speed in research procedures. The method is employed to ascertain the nucleotide sequence of whole genomes or particular regions of DNA or RNA. 

For research purposes, such as in illness diagnosis, prognosis, treatment decision-making, and patient follow-up, NGS-detected sequence variants/mutations have been widely used. Their extensive parallel sequencing capacity creates new opportunities for personalized therapy.


The NGS library preparation automation step is used in several types of research.  A few of these have been explained as follows:

1.    Transcriptome: The transcriptome, or functional part of the genome, is made up of several RNA molecules, including mRNA, miRNA, ncRNA, rRNA, and tRNA. The physiological response and knowledge of how these molecules are controlled depend on each of these RNA molecules.

NGS techniques can help in transcriptomics research. To create a transcriptional profile, RNA-seq technology employs high-throughput sequencing of complementary DNA fragments.

2.    Epigenetics: Research using NGS has provided comprehensive and thorough views of epigenetic modifications for the genomes of several animals and cell types. For instance, DNA methylation and histone modifications are heritable factors that influence DNA transcription.

Numerous illnesses, including cancer, have been related to epigenetic dysregulation, such as DNA methylation and histone alterations.

3.    Multi-Omics: Multiple omics provide a unified perspective to fuel biological discovery at many levels. This biological research approach combines genetic data with information from various modalities to assess gene expression, gene activation, and protein levels.

Studies on multi-omics profiling offer a thorough understanding of the molecular changes involved in healthy development, cellular response, and disease. Integrative omics technology can help researchers better connect genetics and phenotype and promote the identification of new therapeutic targets and biomarkers.

Conclusion

Automated technology can eliminate the guessing and monotony of NGS library preparation during extremely difficult and important research activities. The workstations accurately prepare samples for sequencing by processing more samples faster than hand pipetting, avoiding contamination, and drastically reducing error. Reproducibility between library batches is ensured by using an automated approach, allowing researchers to compare data from various studies.

 
 
 
 

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