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Tech is key to unleashing the value of genomics

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Dr Wolfgang Mertz, chief technology officer: EMEA for healthcare, life sciences and HPC at Dell EMC Isilon, tells us that thealth sector is on the cusp of a step change that will see patients benefit from treatment that is more focused on the individual than ever before.
Through the better use of data and advances in analytics, precision healthcare promises a more personalised approach that will significantly improve the outcome of even the most serious illnesses.
As well as improving patient care, this new level of personalisation also has the potential to meet the increasing cost challenges faced by the healthcare sector by ensuring resources are allocated in the best way.
It’s generating significant traction as a result, with Global Market Insights recently forecasting that the market size will reach $88-billion by 2023.

Not all patients are the same
The fundamental idea behind precision medicine is that one size doesn’t fit all. While some patients respond to a certain treatment, there will be others that don’t.
For example, for one specific type of cancer, just 20% of patients respond well to chemotherapy. This means that treating the other 80% in the same way is both time consuming and expensive, with little chance of a positive outcome.
As well as environmental and lifestyle factors, these variations in how patients respond to treatment are often down to genetics. While specific patient details and heath history can inform precision medicine, the ability to analyse individual genomes can take it to a new level.

The role of the genome
Analysis of a patient’s genome can identify biomarkers that provide a strong indication of how they will respond to a certain treatment. In short, this means patients can be offered treatment that is most likely to treat their illness successfully.
Genome sequencing reveals the unique code that defines the physical characteristics of a person, including the likelihood that they will develop certain illnesses.
Specialist companies provide genome sequencing but the fact that the human genome was first sequenced just ten years ago and contains more than three billion base pairs, puts the data challenge in perspective.
Many countries have national collections of genomics data, such as Genomics England, which is funded by the NHS. Using this data, patterns can emerge across populations that can be used to inform treatment.
However, there remain a number of challenges before precision medicine can become a practical reality for the average patient.

Getting the infrastructure right
Firstly, health organisations must gain an understanding of where different data is located and how it can be accessed in an appropriate way.
Patient data is often siloed in hospitals (in Electronic Medical Records or PACS, for example) while other useful genomics data could be spread across regions, countries and beyond. The first challenge is therefore to locate and access relevant data. This requires national and international coordination to establish channels and systems that healthcare organisations can use to access the data they need.
Of course, all of this data must then be consolidated in a way that gives it practical value. Data lake technology – for example, Dell EMC’s healthcare data lake – is particularly useful in this respect, as it brings together structured and unstructured data from a wide range of sources in a single location. Once in place, this data can be easily interrogated by analytics tools to generate useful insight.
There will also be challenges around the approach different regions take with their genomics data. Some countries may have a small number of healthcare regions in a simple structure, while others are more complex. Healthcare organisations, government and research institutions will need to work out the best way to work with the relevant stakeholders, including who will lead the data consolidation and how this can be done as efficiently as possible.
In this scenario, it’s likely that the volume of data that organisations have access to will grow over time, as new connections are made and further bodies of research are created. The size of the data lake is therefore likely to grow, so scale-out storage, such as that provided by Dell EMC Isilon, will be another important element of the technology infrastructure needed to support the development of precision medicine.

Making genomics data useable
The latest storage technology will clearly be crucial but there also needs to be a way for GPs and other clinicians to make use of the data when dealing with individual patient cases. The data needs to be presented in a way that can be understood by people who aren’t trained in data science.
The development of platform applications is critical if this progress in data analysis is to make a real impact. Specialist ISVs are already developing applications to deliver these kinds of insights but it will take time for them to be adopted widely.
Security is another key consideration when working with patient data. Strict access controls should therefore be applied and data anonymised where relevant.
As the exciting world of genomics is poised to revolutionise patient care, it’s important that organisations delivering healthcare prepare their technology infrastructure.
Data lakes, scale-out storage and platform applications will all be key technologies in making precision medicine a reality in the coming years. If healthcare organisations put these capabilities in place, they will be able to bring patient care to a whole new level.