What is Personalised Medicine? The Challenges, Benefits and Future developments

According to NHS England, key pharmaceutical interventions are currently effective in only 30-60% of patients due to variations in how their individual metabolisms respond to medicines. Personalised medicine offers a solution to address and improve this poor response rate.

At its core, personalised medicine is a medical approach encompassing disease diagnosis, treatment and prevention that considers variability in the genes, environment, and lifestyle of each individual. It relies on genomic data, which enables patients to receive tailor-made treatments based on their unique genetic profile. By having knowledge of the genetic variants responsible for individual drug response, healthcare workers can create an individual’s ‘pharmacogenomic’ profile, identifying optimal treatment.

These personalised treatments target the root molecular causes of certain diseases, rather than relying on the traditional one-size-fits-all model. This helps to improve treatment effectiveness, while reducing trial and error and mitigating undesired side effects. In this way, it can also help healthcare workers make more accurate diagnoses.

There is also the potential for personalised medicine to predict disease risk, ultimately transforming healthcare from a reactive service to a more proactive, patient-centric one. This could therefore improve prevention, early detection, and optimised-treatment strategies, elevating global health standards in general. For a disease like cancer this could have a colossal impact.

And while much of this is based on potential and projections, there are signs that movement is already happening. Health systems including the US, Germany, France, Canada, Australia, China and India are formulating policy and research programmes to support the adoption of more personalised approaches to healthcare. And in a recent report from PubMed Central, health experts noted that personalised medicines now account for more than one in every four drugs the FDA has approved since 2014.

That number is only likely to grow as the benefits of personalised medicine become clearer.

The advantages of personalised medicine can’t be underestimated. This is a revolutionary approach to healthcare; one that will enhance efficiency and improve outcomes through treatments tailored to individual genetic makeups. Through precise disease diagnosis and treatment, the likelihood of therapeutic effectiveness is greatly raised, while the likelihood of side effects is greatly reduced. That represents a big win-win.

It’s in the treatment of cancer that the greatest benefit could potentially be found – both on a personal and national level. In the US, as an example, a little over 1.9 million new cases of cancer are expected to have been diagnosed in 2023, taking a huge toll on individuals, while knocking tens of billions of dollars a year off the US economy through lost productivity. With personalised medicine offering improved disease detection and customised disease-prevention strategies, there is hope that these impacts could be significantly reduced.

The same is true for infectious diseases such as malaria, tuberculosis and HIV, which have dominated disease profiles in Africa. They have been the main contributors to the continent’s burden of disease, causing an estimated annual productivity loss of over $800 billion. As a result, the World Health Organisation has urged African countries to adopt personalised medicine to overcome these challenges.

The preventative side of personalised medicine can also help to save resources by targeting specific disease pathways. This will make treatments more tolerable for patients, enhancing their quality of life, while reducing hospitalisation rates and long-term healthcare costs.

Through genomic analysis, physicians will have greater oversight on genetic variations which can guide drug dosage, allowing patients to get maximal drug benefit with minimal side effects. This has been applied to a whole range of diseases so far, such as cancer, mental illness and inflammatory bowel disease.

And another benefit of targeted treatments is that there will be a subsequent reduction of trial-and-error prescriptions. These are often ineffective due to genetic variations, meaning that patients must try a range of drugs to find one that works for them. This could be largely eliminated with a more personalised approach.

As can be expected with a revolutionary approach to healthcare, there are significant challenges. The main one? Cost.

Personalised medicines, despite their immense benefits in diagnostics, treatments and preventions, pose significant cost implications. These medications are often extremely expensive, and have become a financial burden for patients, affecting affordability and access.

High development costs, complex manufacturing processes, and pricey genetic testing and therapies all contribute to the increased expenses. The knock-on effect is that healthcare systems worldwide are finding it extremely challenging to integrate these specialised treatments into standard care.

Then there’s the potential for personalised medicine to increase health insurance costs, which has raised alarms for both patients and the public. Already, around 40% people in the USA believe that personalised medicine will significantly increase the cost of healthcare over the next five years.

The need, then, for regulating costs without compromising innovation and patient accessibility is crucial. That way we can ensure equitable access to personalised medicine and alleviate the economic burden on patients and healthcare systems. But how to go about it?

Currently, there is no standardised model. In a number of EU countries, for instance, companion diagnostics are not funded by the healthcare system, and therefore patients do not have access to personalised medicine unless the manufacturer of the pharmaceutical funds the companion diagnostic. This results in only a small proportion of the population having access to personalised medicine.

But if the price of pharmaceuticals was adapted to reflect the ability to pay in different countries, this would help bolster patient access to personalised medicine technology, the sustainability of healthcare systems and the pace of innovation. This is highly relevant in the European context where the gaps between GDP and healthcare-spend per capita, and access to the latest innovative medicines, have been widening. Member-state action and support from the EU are required to create a framework to enable and encourage voluntary recourse to differentiated pricing.

There is already work underway across the world to support the development and usage of personalised medicine, with governments launching various programs to address the issue of cost.

As an example, the US government set up the Precision Medicine Initiative in 2015 to promote individualised patient care, in turn increasing research funding, levelling regulations, and encouraging data sharing.

And in the EU, the European Partnership for Personalised Medicine (EP PerMed) is aiming to significantly support the transnational development of personalised medicine approaches over the next ten years and their successful translation into clinical practice, with a total budget of around €375 million.

There’s also been increased talk of governments subsidising the cost of personalised treatments or offering tax credits to those companies conducting relevant research, resulting in reduced costs for patients. And as personalised medicine begins to enter the mainstream, increased efficiency in research methods, technological advancements, and economies of scale will help bring costs down.

But one large sticking point is likely to be insurance. This plays a significant role in dictating the affordability of personalised medicine, with insurance companies able to make personalised medicine more accessible by covering a portion of the costs associated with genetic testing and personalised treatments. It’s likely, though, that insurance companies will want to see sustained evidence of cost-effectiveness before covering these services.

And equally, navigating reimbursement for personalised medicine is currently complex due to the novel nature of these treatments, so creating policies to address this can make it more affordable. Governments will need to gather evidence for reimbursement that demonstrates the clinical and economic value of the treatment. Considering this, payers such as Medicare and Medicaid in the US, have begun developing new payment models to reimburse providers for personalised treatments based on their demonstrated value.

Despite the promises it holds for revolutionising healthcare, personalised medicine is also facing the challenge of scalability, with several limitations and barriers barring general uptake.

Scalability is intimately connected with cost, and in some cases there is significant overlap. The high costs of production and implementation, testing and treatment, as we’ve already touched upon, in turn prevent the kind of scalability that could make personalised medicine globally accessible. Then there are the complex manufacturing processes, regulatory hurdles, and requirements for vast volumes of patient-specific data.

Indeed, in requiring massive datasets, personalised medicine not only runs into the challenge of prohibitive running costs, but also into privacy concerns. Add in a layer of regulatory complexity - which is bound to be the case for novel treatments such as these - and broader implementation is slowed down even further.

And so personalised medicine faces something of a catch-22. Scalability is crucial as it directly impacts patient accessibility. But if costs are too high to be met in the first place, and regulation and privacy concerns also hinder movement, accessibility remains closed off to most, costs remain just as high, and scalability becomes virtually impossible.

There are several ways we can overcome scalability challenges for personalised medicine, but it requires a multidimensional strategy.

Where costs are concerned, technological advancements in precision diagnostics should help to reduce prices, making gene sequencing and molecular diagnostics more widely accessible. Equally, innovative manufacturing processes can drive down the costs of personalised therapy production.

But we also need to see the development of strategic partnerships between academic institutions, pharmaceutical companies and healthcare providers to create diversified data pools, which will streamline data management. Regulatory bodies should also adopt a more cooperative model with personalised medicine developers to expedite market-approval processes.

And finally – and perhaps most importantly – it’s vital that healthcare professionals are properly educated about genomic medicine so that the adoption and successful implementation of personalised medicine can be increased.

All of these areas, from considerations of cost to data privacy, are feeding into the ethical framework of personalised medicine, which is becoming increasingly important.

Accessibility is at the forefront of this, with the fear that high costs will create unequal access. Balancing affordability, then, is central to successful implementation. Likewise, there needs to be stringent measures for privacy and data protection put in place as misuse or inadvertent release of this data could lead to discrimination or stigma. And within the same ethical code of practice, patients should be adequately informed about associated risks before consent.

We’ll only maximise the benefits of personalised medicine with ethical guidelines like these in place.

While ethical frameworks are debated and drawn up, emerging trends are pushing the boundaries of personalised medicine all the time. At the heart of this, genomic sequencing is becoming quicker and more affordable, enabling a broader patient base to benefit from personalised treatment, while artificial intelligence and machine learning are augmenting data analysis, enhancing prediction accuracy and drug-development efficiency. Researchers are exploring approaches like Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) gene editing for more targeted therapies, too.

Added to this is the advent of liquid biopsy - a non-invasive method of detecting cancer-related mutations that offers promise for early detection and personalised treatment - and the growing influence of digital health, particularly wearable technology, which is facilitating individual, preventive care.

As these trends and innovations lead to further advances, personalised medicine is likely to grow significantly. And with it, the demand for experts and additional training will also grow just as fast.

Education is key to furthering personalised medicine, and the competition for talent is likely to intensify as it becomes more widespread globally.

As Tom Van de Woestijne, Business Unit Manager Life Sciences Brunel Belgium, says: “When engaging with our clients, I've noticed a significant demand for job profiles in pharmaceutical production, commissioning, qualification, and validation. Particularly, roles within laboratory settings and shift work are expected to gain greater prominence.”

The ongoing advancements in the field of personalised medicine and the approval of personalised medications look set to have a big effect on healthcare. Personalised medicine could dramatically improve treatments for many patients while also making healthcare more efficient and effective. Additionally, it has the potential to act as a preventative force, addressing disease risk at source, giving patients much greater clinical outcomes.

Yes, the current challenges are significant. But with the right backing and support at governmental level, personalised medicine could prove to be a revolution in healthcare.