Advancing genomic sequencing and public health with digital infrastructures

The future of healthcare is advancing rapidly across different medical fields. Right before our eyes, we've witnessed the development of the COVID-19 vaccine in record time. An enormous achievement in an otherwise lengthy task that previously took, on average, 10-15 years.

This was all thanks to the advancement of genomic sequencing, where researchers understand the entire genetic makeup of an organism. But it didn't come without its own challenges. One of which is the massive data volume generated from the research. A single human genome sequence alone takes up 200 gigabytes, equivalent to the space of 200 movies. This means the success of innovation relies on robust and agile infrastructure to support the entire research program, from data processing and exchanging to analysing and storage. Facilitated by digital infrastructures, healthcare experts and public health bodies can speed up research development and worldwide collaboration to advance health research.

Speeding up collaboration with secure connections

One of the significant factors in delivering a vaccine was the increase of speed in collaboration. Under intense pressures of the pandemic, countries found themselves needing a faster way to share an immense amount of data with each other, with clinics, labs, and the World Health Organisation.

Whilst effective collaboration amongst researchers across borders is essential, it is critical to do it in a way that does not pose security risks as patient data is sensitive. A standard internet connection cannot transmit data in a secure, fast and reliable form; instead, researchers deploy an interconnected infrastructure to bypass the public internet, reducing security threats and attack surfaces.

Genomics England, a medical institute supporting some of the world's most advanced and precision medicine, was able to address the fast-evolving situation by utilising interconnected infrastructure. They could share data quickly and securely across locations to facilitate collaboration with researchers in UK universities to advance research. The institute set up its research environment in just a few months and built infrastructure from scratch to handle the computing requirements of genomic sequencing. This infrastructure saved a significant amount of time, especially when timely research was imperative. Connected digital infrastructure not only advanced the speed of collaboration but also accelerated the research process. This means future disease variations and solutions can be brought to market faster because the research chain becomes more efficient, and barriers to sharing and collaborating become smaller.

Furthermore, as health data needs to be kept private, organisations like Genomics England can store and process their data internally first and then utilise tools in the cloud to analyse the anonymised genomic data. This secure, reliable and stable model allows researchers to focus on their data without concern for slow or stolen information.

Increased flexibility and scale with data protection regulation

Another challenge is data gravity. Referring to the sheer scale of all genomes that need to be collected, processed, stored and shared, it requires a digital architecture that can be flexible to support different uses of large and expanding data volumes. As an additional challenge, governments across the globe are tightening their regulations with data exchange, with certain data required to be handled and stored locally. For institutions, the answer lies in a hybrid infrastructure model. This supports sequencing calculations on-premises and provides secondary research and analysis operating in the cloud. This provides the required capacity and flexibility for research because it can rapidly scale their infrastructure to specific data requirements.

The flexibility benefits are not only limited to larger-scale researchers. For example, a group of academics in India, Brazil and Portugal researched how tuberculosis strains had evolved in different countries. The project required dedicated servers to host the data cost-effectively and meet local data regulations. Transmitting data through the internet was unreliable, so rather than buying dedicated servers, going digital meant they could rent servers to work together. The researchers tapped into digital tools to save costs, speed up collaboration, comply with requirements and adjust their storage and computing power to facilitate their research. Furthermore, rather than waiting for researchers in other locations to complete their data and send it across, they were able to work in tandem. By connecting physical and virtual digital infrastructure, researchers of all sizes can collaborate and scale hybrid deployments easily in a cost-effective manner.

The future of genome research and public health

The possibilities in genomic tech are far-reaching. Besides faster and more secure systems, researchers can access artificial intelligence (AI) to predict outcomes and automate actions. This can help identify DNA pieces quickly, a crucial factor in the fight against ongoing antibiotic resistance, cancer treatment and rare disease research. AI tools also help researchers automate routine tasks, such as trimming data, classifying relevant sequences and submitting medical certificates—saving valuable time. Researchers can also build AI models quickly via a variety of technology partners, with the flexibility to adjust the amount of storage needed based on research intensity.

Government bodies are increasingly recognising the importance of these advancements and turning to genomic research to provide personalised healthcare for patients. In 2018, the UK Government announced an ambitious new target to sequence 5 million genomes over the next five years to place genomic medicine as one of the core pillars of healthcare. More recently, Singapore built a custom cloud infrastructure to support the large-scale study of Singapore genomes. But as healthcare becomes increasingly digitised, a key consideration is for government privacy frameworks to ensure that data remains secure. For example, policymakers can examine using blockchain to secure and trace instances of data sharing.

Healthcare is being revolutionised. Whether we are increasing the speed of response, uncovering genetic mysteries, or collaborating with researchers worldwide, public health benefits from the leaps that researchers can make. It is exciting to see healthcare continue to crack diseases with the aid of technology and support their data infrastructure needs to advance public health.