The importance of integrating next-generation DNA sequencers for advanced genetic diagnostics

Next-generation sequencing (NGS) is a powerful tool in genomics research, capable of sequencing millions of DNA fragments simultaneously. It provides detailed insights into genome structure, genetic variations, gene activity, and changes in gene behavior. Integrating next-generation DNA sequencers into advanced genetic diagnostics represents a significant leap forward in medical science, offering unprecedented accuracy, speed, and scope in genetic analysis.

Let us dive into the host of benefits that this integration offers:

• Enhanced diagnostic accuracy and speed. Next-generation sequencing (NGS) technology vastly improves the accuracy and speed of genetic diagnostics. Traditional methods like Sanger sequencing are time-consuming and incapable of detecting rare multiple genetic variants at scale. Researchers can now pinpoint genetic mutations with greater accuracy, allowing for more specific and targeted investigations. This precision is crucial for distinguishing between pathogenic (causative) mutations and benign variants, leading to more reliable genetic diagnoses. NGS, however, can sequence specific regions of interest or whole exome or even entire genome quickly and at a lower cost. The global NGS market is expected to grow from USD 8.5 billion in 2020 to USD 23.6 billion by 2025, driven by its widespread adoption in diagnostics. A recent study by Arteche-López, A., et.al. (Sci. Rep. 2021) reports that there is no more requirement of Sanger sequencing to validate NGS data.
• Comprehensive genetic analysis. NGS allows for comprehensive analysis of genetic material, making it possible to identify single nucleotide mutations, small insertion/deletions, copy number variations, and structural variants that traditional methods might miss. This is particularly important for diagnosing complex diseases, such as cancer, where multiple genetic alterations are involved. According to findings published in The Oncologist, NGS has demonstrated the ability to uncover targetable mutations, offering diagnostic insights for patients with cancer of unknown primary. The study revealed actionable mutations in 57 percent of participants, and facilitated site-specific diagnoses in 15 percent of cases.
• Personalized medicine. By understanding an individual’s genetic makeup, healthcare providers can tailor treatments to the specific needs of the patient. This approach can improve treatment efficacy and reduce adverse effects. NGS tests are capable of rapidly identifying or sequencing large sections of a person’s genome and are important advances in the clinical applications of precision medicine. For example, in oncology, NGS can guide the use of targeted therapies that are more effective for patients with specific genetic mutations. With the advent of personalized medicine, including genetic screening and targeted cancer drugs, the death rate for breast cancer in the United States has declined by 43 percent from 1989 to 2020.
• Cost-effectiveness. While the initial investment in NGS technology can be high, the long-term benefits include cost savings due to more accurate and timely diagnoses, which can reduce the need for multiple tests and ineffective treatments. The first human genome project, completed in the early 21st century, cost approximately USD 2.7 billion in today’s terms, reflecting the monumental effort and resources required. By 2024, the cost of sequencing a human genome has dropped significantly to as low as USD 600 in some cases, highlighting remarkable advancements in affordability and accessibility.
• Advancements in rare disease diagnosis. NGS is particularly valuable in diagnosing rare genetic disorders, which often go undiagnosed or misdiagnosed for years due to their complexity and the limitations of traditional diagnostic methods. The Global Genes Organization estimates that rare diseases affect 400 million people worldwide, and about 80 percent of these diseases are genetic in origin. NGS can quickly identify the genetic causes of these disorders, enabling early and accurate diagnosis, which is critical for managing and treating these conditions effectively.
• Data-driven insights for research. The vast amount of data generated by NGS provides invaluable insights into the genetic basis of diseases, aiding in the discovery of new therapeutic targets and the development of novel treatments. The Human Genome Project, which utilized early forms of sequencing technology, took 13 years to complete for USD 2.7 billion. In contrast, today’s NGS technology can sequence a human genome in a matter of days for a fraction of the cost, vastly accelerating the pace of genomic research.

Outlook
The integration of next-generation DNA sequencers into advanced genetic diagnosis represents more than just a technological leap forward; it signifies a profound paradigm shift in healthcare. This transformative technology is not only evolving rapidly but also becoming increasingly accessible, amplifying its potential to revolutionize patient care and medical research alike. Emphasizing its adoption in modern healthcare systems underscores its critical importance, promising to redefine how diseases are understood, diagnosed, and treated in the years to come.