Did you know that while we humans are 99.9 percent identical at the genome level, it is the 0.1 percent variation that explains many of our individual traits, including our susceptibility to diseases?
“Rare” disease
Did you also know that what is termed “rare disease” is actually not so rare, as modern medical discoveries continue to reveal novel conditions that limit people’s everyday lives and were previously undiagnosed and untreated? According to Rare Disease UK[ii], there are between 6,000 and 8,000 known rare diseases with around five new rare diseases described in medical literature each week. Actually, one in 17 people around the globe will be affected by some form of rare disease, either seriously or in a less serious form. In fact, the carriers of rare diseases globally are easily equivalent to the population of a large country.
And, to add to this, there is of course cancer, which comprises a genetic disease category in its own right. Non-medical people, like me, tend to forget that cancer isn’t just one disease – it’s actually hundreds of diseases forming thousands of combinations, each requiring a personalized and adjustable treatment plan.
Modern personalized diagnostics
The good news is that over the past ten years, tremendous biotechnological advances have not only changed the way we diagnose and treat genetic disease (and other more common disorders) but have also created a wealth of biomedical data. This has contributed hugely to our genetic disease knowledge, leading to a self-feeding loop of improved diagnosis and treatment. The key technology – Next Generation Sequencing (NGS) – allows for cheap, fast and accurate acquisition of a person’s whole or partial genome with countless applications, spanning disease diagnosis treatment to lifestyle decisions.
Rapid diagnosis
Going back to disease susceptibilities, were you aware that genetic disorders are a leading cause of infant deaths? Unfortunately, diagnosing acutely ill babies is a race against the clock. While standard diagnostic methods are usually too slow to make a difference, an NGS technique called Whole Genome Sequencing (WGS) can meet the critical time window to save lives. As WGS has become more affordable, it is also becoming more broadly available to patients. Today, new-born screening is currently available for about 60 genetic diseases with more to follow. As Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine said, “Rapid diagnosis of critically ill newborns is no longer an academic exercise; it’s a reality for critically ill new-borns.”
In addition to new-born disease screening, WGS is also used to end the diagnostic odyssey of children and adults, who suffer from unusual genetic disorders and cannot reach a diagnosis through traditional methods.
Immune and gene therapy
Likewise, immune therapy and gene therapy – the process of treating an acquired disease like cancer either by using the patient’s own immune cells or by modifying their DNA – is also part of the present-day clinical treatment toolkit. This high accuracy, ultra-rapid method allows the simultaneous evaluation of nearly all 5,000 known genetic diseases in a single test, all enabled by guess what? Yes, believe it or not – a high-performing IT technology compute and storage solution!
Precision medicine
These are two great examples of what the healthcare industry calls precision medicine – treatments that look at the genetic profile and genetic characteristics of the patient as well as the specific disease that the patient is dealing with. Using this information, doctors are then able to create a personalized treatment plan for each patient that continues to evolve and adapt as required.
How we support healthcare
As western healthcare systems creak under the pressure of aging populations with chronic diseases and not enough funding to cope, health care authorities and hospitals are rapidly moving to adopt big game changers, like whole genome sequencing.
Globally, we at Dell EMC OEM are working with a number of specialist companies in this field, sharing our expertise on the underlying compute and storage technology involved. For example, one of our partners, HybridStat has developed Geniasis, a DNA analytics platform, powered by Dell EMC architecture, which performs WGS analysis for diagnostic purposes. HybridStat also offers bioinformatics consulting services to life scientists.
Deepening understanding and enabling new products
We also work with organisations like Genomics England, Genomics Scotland, Genomics France and Genomics Wales, who do great work to expand the medical world’s understanding of diseases. For example, at the end of 2018, Genomics England achieved its goal of sequencing 100,000 genomes from around 85,000 people.[iii] This project – the largest national sequencing project of its kind worldwide – is enhancing researchers’ understanding of diseases while also supporting the development of products for earlier detection and treatment. You can read more about our work with Genomics England here.
In a separate development, the British Government also announced plans last year to use artificial intelligence to diagnose cancer at earlier stages, which they believe will prevent 22,000 deaths by 2023.[iv]
IT technology has enabled progress
What has driven this revolution? Of course, medical research has made and continues to make huge advances but there’s no doubt that IT technology has been a significant enabler. Up until now, genome scale data management, annotation, interpretation and reporting were expensive and complicated, especially for clinical purposes.
Now, thanks to rapid IT technology developments, DNA sequencing has become faster and cheaper with scientists now sequencing an entire genome in 22 minutes, while the process previously took days.[v] However, despite such advanced progress, experts say that the whole genome sequencing process needs to become even more automated if it is to realize its full potential.
The rocket fuel
How do we get to this next stage? Of course, it goes without saying that we need scientists and continued investment in medical research. However, researchers also need the right tools like high performance computing and storage. The current estimate is that up to two billion genomes will be sequenced by 2025 and that storing, and processing genome data will reach up to 40 exabytes, exceeding the computing challenges of running YouTube and Twitter.
