Key innovations transforming healthcare

It is also used to aid the diagnosis of rare diseases, by comparing a patient’s genome with a reference genome. Uncommon symptoms and limited awareness mean that rare disease patients are often passed from one specialist to another, and children typically wait an average of 6-8 years for an accurate diagnosis.

Elsewhere, genomics can be used to discover which specific genetic mutations led to a patient’s cancer, helping to inform more specific and effective treatment. Another emerging field is pharmacogenomics, where researchers study how genetics influence our responses to different medicines, therefore helping to tailor the types and amounts of medication used in treatment.

Proteomics is the study of the proteins in cells, their 3D structure and function, and how they interact with each other. It allows us to understand how cells function and how they are altered by diseases, with the potential to revolutionise biological research, drug discovery and disease treatments.

Progress in proteomics is far behind genomics, due to several challenges. Unlike DNA, proteins have a huge variety of biophysical characteristics (such as size, charge and hydrophobicity), which makes them more difficult to read. The amount of proteins found in any given sample can also vary greatly, from hundreds of millions to just a few.

This means that no existing technology is currently able to measure the full human proteome (the entire collection of proteins in our cells). However, new technologies are being developed to overcome these issues and help bring researchers’ fundamental understanding of previously ‘fuzzy’ biological concepts into high resolution. One company is developing a system that will capture billions of individual protein molecules from a cell, which are chemically ‘probed’ in a non-destructive way, over and over again, to decode their identity. The results are then digitised and analysed by machine learning software to give a clear picture.

Gene therapies – Treatment at source

Enabled by the advances in genomics, gene therapies are an area of innovation in the pharmaceutical industry with potential for the treatment of disease at its source (rather than managing downstream symptoms). They aim to treat, cure or prevent disease by correcting the underlying genetic cause – usually by introducing a new gene to help fight the disease, or a non-faulty replacement copy of the gene causing the issue. The new genetic information is transferred into the cell through a carrier, such as a deactivated virus or a tiny nanoparticle structure.

Gene therapies are often unique to a small group, or an individual patient and their genome. For this reason, they are incredibly expensive. The Institute for Clinical and Economic Review puts the average cost of a gene therapy between $1-2 million, but a recent FDA-approved gene therapy for haemophilia B, a rare blood disorder, comes with an eye-watering $3.5 million price tag.

While the costs are significant, the results can be truly life changing. With a single injection, patients can potentially be cured of lifelong ailments, not only improving their quality of life, but also saving huge amounts of time and money otherwise spent on recurring treatments. We also expect the cost of individual treatments to fall over time, as more trials are completed and production becomes commercialised.

Remote testing and monitoring

The World Health Organization (WHO) estimates that there will be a global shortage of 10 million healthcare workers by 2030. However, technological advances have the potential to help with healthcare worker shortages and support decision-making.

For example, the testing, monitoring and treatment of conditions at home or in a more local setting, such as a high street pharmacy, can reduce the need for regular visits to a hospital or laboratory. This is easier for patients, and frees up valuable, stretched healthcare resources.

US company Masimo developed a more accurate technology for pulse oximetry – the measurement of blood oxygen levels, usually from the fingertip. Its technology is proven to generate fewer false alarms and fewer true misses compared to peers. Continuing to evolve, the company has also launched a remote patient monitoring system. Capturing over 60 parameters, the system uses machine learning to establish a personalised baseline for a patient, to more accurately escalate patient distress with fewer false alarms, therefore aiding healthcare worker productivity.

Continuous glucose monitoring (CGM) and insulin pumps are two important advances in diabetes technology in recent years. CGM devices measure blood glucose levels in real time, providing patients with a more comprehensive view of their glucose levels than traditional fingerstick testing. Insulin pumps deliver insulin automatically, based on the patient’s glucose levels. Together, these devices have been shown to improve glycaemic control in people with diabetes significantly. Alongside improved medical outcomes, these devices also provide patients, and in particular the parents of children with diabetes, with peace of mind.

Technological innovations in surgery

Minimally invasive surgery (MIS) involves making small incisions in the body, through which surgeons insert cameras and other tools to carry out a surgical procedure. The benefits over open surgery include fewer complications, shorter hospital stays and faster recovery. Despite this, 40 years on from the development of the first MIS techniques, an estimated 60% of surgeries are still performed as open procedures.

With limited visibility and range of motion within the patient’s body, MIS requires extensive practice and experience – a potential reason that it isn’t used more widely. However, advances in medical imaging and robotic-assisted surgery are playing a key role in growing the numbers of minimally invasive surgeries.