Next generation sequencing (NGS) is unlocking the puzzle of DNA and revolutionizing bioscience. DNA is the code that defines life. It is why some people have blue eyes, and others have brown.
DNA is also behind many disease processes. Its reach extends beyond genetic diseases like Huntington’s or sickle cell to chronic illnesses we associate with aging, such as heart disease or dementia.
Like most codes, DNA uses unique elements to create a puzzle. Understanding the arrangement of those elements is the key to unlocking its code, and accuracy is crucial.
How DNA Works
Remarkably, DNA utilizes just four elements, known as chemical bases:
- Adenine
- Guanine
- Cytosine
- Thymine
The arrangement of these four bases determines the characteristics of the organism. Each base sequence uses three chemicals, and it takes approximately three billion bases to make one human being—the order and arrangement of the bases codes information to build and maintain the body. NGS helps scientists decode the DNA puzzle and better understand the bases.
How Next Generation Sequencing Works
NGS is a technology that can determine the sequence of chemical bases. Sanger sequencing, developed by Frederick Sanger in 1977, is able to analyze small samples.
Although medical science still uses Sanger sequencing, the current technology called Next Generation Sequencing has evolved to decode whole genomes at once. It would take a decade to do a similar level of sequencing using the Sanger method, according to a 2013 study published in ADC Education & Practice.
Given the intricate nature of DNA, accuracy is critical. The Medical Device Innovation Consortium (MDIC) recently launched an initiative to improve the accuracy of next-generation sequencing for enhanced cancer diagnosis.
The MDIC Initiative
MDIC is a public-private partnership looking to advance medical device regulatory science. They proposed a project in April 2018 to develop shareable reference samples for improved accuracy of NGS-based oncology tests. Recently, the project entered its second phase.
The goal of the pilot project, according to MDIC, is to use CRISPR to individually engineer ten gene variants clinically associated with cancer into a highly characterized human cell line, GM24385. Horizon Discovery designs and produces these reference samples.
The second stage looks to build on what the first accomplished, including covering landscape analysis, defining the project, and accepting proposal requests from manufacturing partners. An MDIC spokesperson confirmed that the consortium is announcing the formal launch of the pilot project to make and define somatic reference samples and create a steering committee of key stakeholders who will guide it.
MDIC will lead a collaboration with the US Food and Drug Administration, the National Institute of Standards and Technology (NIST), the National Institutes of Health, and industry stakeholders to manufacture, validate, and distribute SRSs to simplify and support the validation of NGS-based cancer diagnostics as part of the initiative. According to the consortium, the initiative also aims to create a publicly available global genomic data resource library of datasets that sponsors and regulators could use.