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NGS Services: Accelerating Cancer Research

   September 18, 2023

Next-generation sequencing (NGS) is a technology used to determine the sequence of DNA or RNA to study genetic variations associated with diseases or other biological phenomena. It is a high-throughput technology offering high speed and scalability. However, installing & maintaining an in-house NGS system is expensive. Hence, there is an increasing trend of outsourcing NGS-related projects. Numerous companies provide NGS services to fulfill the sequencing requirements of hospitals and diagnostic laboratories, pharmaceutical & biotechnology companies, and academic & research institutes, among other end users.

The adoption of NGS services is accelerating cancer research by enabling researchers to find novel and rare cancer mutations, discover cancer mutation carriers, perform whole genome studies, and expand on the genomic aspects of the disease.

Exploring the Benefits of NGS Services in Precision Medicine

Next-generation sequencing (NGS) technology advancements are changing how doctors diagnose and treat cancer. New targeted cancer treatments that use genomic data to provide patient-specific treatments are known as precision oncology. Precision oncology is a rapidly developing field that has already entered mainstream clinical practices. It involves the molecular profiling of cancer cells to identify targetable alterations, also known as biomarkers. Quick and reliable sequencing of multiple genes at once is possible with next-generation sequencing (NGS) technology.

NGS has helped develop precision medicine, which involves tailoring treatments based on disease-causing molecular changes in a person's body. While NGS has been used in various scenarios, oncologists are currently using it to sequence their patients' biopsy samples to determine the right medicines that can target the genetic abnormalities driving tumor growth.

The successful implementation of precision medicine requires testing of patients for actionable mutations and interpretation of molecular profiling results, and identification of matched therapies. This process requires testing patients using techniques such as whole exome sequencing, whole genome sequencing, and whole transcriptome sequencing. NGS services play an important role in facilitating the process of precision medicine and allowing healthcare providers access to NGS technology.

The Power of NGS Services: Expanding Clinical Applications in Cancer and Reproductive Health

Next-generation sequencing (NGS) technologies, such as DNA sequencing and RNA sequencing, can reveal the genomic, transcriptomic, and epigenomic aspects of individual cancers. Using NGS technology, various genomic aberrations can be screened simultaneously, such as common and rare variants, structural variations (insertions and deletions), copy-number variations, and fusion transcripts.

With the help of the Genome-wide Association Study (GWAS), it is easier to identify the location of pathogenically relevant variations and detect many common variants with small effects for cancer and other complex diseases. Further, whole-exome sequencing (WES), a targeted sequencing method, is routinely used and is gradually being optimized to detect rare and common genetic variants in humans. Exomes represent less than 2% of the genome; thus, the WES reduces the cost of sequencing a targeted region at a high depth and also reduces storage and analysis costs. WES provides comprehensive exome sequencing to identify exact pathogenic mutations for the disease with a low frequency of false-positive signals, which is a cost-effective method (<USD 400–600/sample) as compared to whole-genome sequencing (WGS) (USD 3,000–5000/sample) depending on the coverage.

Furthermore, in clinical settings, NGS services have several applications in reproductive health, such as non-invasive prenatal testing (NIPT), carrier screening, in-vitro fertilization, and newborn screening. Since genetic diagnosis and screening development, technological advancements have been made to capture clinical information about embryological studies. Next-generation sequencing procedures are increasingly used to analyze DNA found in circulating maternal blood and detect fetal abnormalities & genetic alterations to provide appropriate genetic counselling.

Thus, apart from growing applications in cancer screening, the rising adoption of NGS technology in reproductive health indicates great potential for the growth of the NGS services market.

NGS Services for Targeted Sequencing: Revolutionizing Oncology Testing

Targeted sequencing is a rapid and cost-effective method used to detect known and novel variants in selected genes. Targeted RNA and DNA sequencing enables high accuracy for identifying specific areas of interest and provides expression information. Targeted sequencing is considered an ideal approach when a group of genes is already known to be associated with the disease of interest.

Targeted sequencing services enable researchers to routinely use this technology in cancer diagnosis, as it is accurate, rapid, and cost-effective. For breast cancer, lung cancer, and leukemia, NGS service providers use targeted sequencing panels that focus on a selected number of specific genes for disease diagnosis. NGS sequencing services companies offer smaller testing panels with known actionable mutations, such as ER, PR, ALK, PDL1, and ROS1. Testing these biomarkers is also recommended per NCCN guidelines for cancer treatment, encouraging oncologists to recommend NGS testing to check the feasibility of targeted therapies.

Targeted sequencing is particularly useful for discovering somatic mutations in complex samples such as cancerous tumors mixed with germline DNA. The technique is becoming increasingly popular as a low-cost means to examine specific genomic regions across many samples, making it particularly beneficial for research on the genetic causes of cancer and other disorders.

The Power of Sequencing Data Analytics: Exploring New Opportunities

One of the most challenging aspects of NGS is managing the massive scale of sequencing data. The Genome Analysis Toolkit (GATK) is one of the most widely utilized software packages for the life sciences industry, developed at the Broad Institute to analyze NGS data. GATK offers a wide variety of tools, emphasizing variant discovery and genotyping and a strong focus on data quality assurance. For instance, large-scale human medical resequencing projects such as 1000 Genomes and The Cancer Genome Atlas utilize the GATK programming framework, enabling developers and analysts to quickly and easily understand robust NGS data efficiently.

According to the Frontiers in Life Science journal, the current sequencing limit is evaluated to be 13 quadrillion DNA bases per year. This has resulted in the urgent need for new databases that can store large volumes of disparate data types. For example, to store 1000 human genomes, the net measure of space needed is roughly three terabytes; however, storing raw sequences needs considerably more space. Furthermore, retrieving and transferring these voluminous data composed of several thousand genomes (as in the ICGC) requires various sequence compression techniques.

As the research area expands rapidly, more libraries are being moved to the cloud; hence, the technology has entered the second phase of its life cycle, dominating the IT paradigm. Therefore, the need to effectively tackle this data has led to an expanded enthusiasm for approaches to parallelization and dispersed execution of annotation pipelines. Researchers expect to develop an improved version of NGS analytics, which could provide filtering, mapping, and analysis of large datasets in shorter timespans and provide accurate and faster analysis of high-throughput sequencing data. In the coming years, the need to handle complex sequencing data is expected to grow, creating opportunities for players to develop effective data storage and NGS analytics solutions.


Next-generation sequencing (NGS) services are revolutionizing cancer research and precision medicine in many ways. By outsourcing NGS-related projects, healthcare providers, researchers, and biotechnology companies gain access to high-speed, scalable, and cost-effective sequencing technologies. This technology is driving the growth of precision medicine, where treatments are tailored to an individual's genetic profile.

NGS services enable oncologists to decode the genetic makeup of cancer cells accurately and allow the identification of targetable biomarkers. This has allowed a new approach to treating cancer patients more effectively with improved outcomes.

However, managing the vast amount of sequencing data generated by NGS is challenging. This has prompted the development of advanced data analytics tools like the Genome Analysis Toolkit (GATK) and a growing demand for effective data storage and analysis solutions, including cloud-based options.

As the research area continues to expand, NGS services hold great potential for further growth opportunities. With improved data handling and analytics capabilities, researchers can now easily explore the field of genomics. As we move forward, integrating NGS services into healthcare and research is expected to boost the adoption of cancer research and precision medicine and improve disease diagnosis and treatment.

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