Genomics has been revolutionizing approaches to healthcare and precision medicine. The portability, scalability, and affordability of third-generation or long-read sequencing techniques such as nanopore sequencing have caused a dramatic shift in genomics to provide personalized medicine, accurate disease diagnosis, and disease prevention, says GlobalData, a leading data and analytics company.

Kiran Raj, Practice Head of Disruptive Tech at GlobalData, comments: “Advances in genomics have allowed the direct-to-consumer testing for personalized genetic health while reducing the cost of genome sequencing. Such advancements are not only augmenting genetic disease diagnosis but also transforming drug discovery while enabling the tracking of disease outbreaks.”

Vaibhav Gundre, Sr. Consultant of Disruptive Tech at GlobalData, comments: “Innovations in nanopore sequencing have enabled a complete view of genetic variations and the possibility to reconstruct complex genomes. Rapid access to time-critical information unlike traditional sequencing and focus on specific genes/regions to provide relevant data make the technology unique. Higher depth of coverage and simplified data analysis along with a reduced cost has seen the technology rise in popularity.”

GlobalData’s FutureTech Series report, “Advanced Genomics: key disruptive forces to transform health and wellness,” highlights over 30 disruptive forces in genomics as emerging, accelerating, and maturing innovation areas based on their rate of growth in innovation.

Nanopore sequencing supports game-changing use cases such as long-read sequencing, real-time data streaming, targeted sequencing, and direct RNA sequencing. It works by monitoring changes to an electrical current as nucleic acids travel through a protein nanopore. The precise real-time analysis of long DNA or RNA fragments is obtained by decoding the resulting signal.

In August 2022, CD Genomics, a US-based genomics services company, launched a nanopore direct RNA sequencing to identify new genes, transcripts, and alternative splicing events.

In April 2022, UK-based Genomics England announced that it will use technology developed by Oxford Nanopore to evaluate cancer tumors. In March 2022, Oxford Nanopore also played a crucial role to help complete the sequencing of a human genome.

In February 2022, Stanford University used AI computing and Oxford Nanopore’s nanopore sequencing to speed up the genomics sequencing process to generate more than 100 gigabases of data per hour and earned a Guinness World Record title in the process.

Gundre concludes: “Despite advances in the technology, challenges such as inaccurate detection of single bases in nanopore sequencing data and low stability of current passing through nanopores lead to poor sequencing quality. Given such challenges are addressed, diverse potential applications can help nanopore sequencing to become a crucial technique in the genomics revolution.”