Why we need readiness for advanced diagnostics

06 October 2022

New diagnostic technologies will be fundamental in the shift towards personalised healthcare. Health systems must ensure they are ready to integrate these technologies into routine care if they are to fully realise the potential benefits.

What are advanced diagnostics?

Advanced diagnostics are innovative diagnostic techniques that use genomics – the study of genes and their functions – to guide delivery of personalised healthcare. Unlike single-gene tests or techniques that examine a limited section of the genome, advanced diagnostics use novel sequencing technologies to provide comprehensive and detailed information about a person’s condition. They do this by looking for alterations along most or all of the genome, or by analysing gene expression.

By identifying the specific genetic alterations involved in a person’s disease, clinicians can make more informed and personalised decisions along the patient pathway.

Advanced diagnostics can facilitate early detection of disease and more accurate diagnosis. For example, researchers have identified early genetic markers of increased cancer risk, which could support earlier detection and help determine which people require treatment before the disease has progressed. Genome-wide sequencing has also proven valuable in diagnosing rare diseases and allowing family members to be screened for the same conditions.

By providing more detailed information about the genetic signature of a disease, advanced diagnostics allow clinicians to prescribe targeted therapies. This avoids the need for a trial-and-error approach and limits the use of treatments that are unlikely to be effective. Some genetic information can also be used to estimate the likelihood of relapse.

How can advanced diagnostics benefit people and health systems?

Targeting treatments to specific genetic mutations means patients can avoid the toxicity and side effects that would result from ineffectual treatments. It also helps match people with clinical trials, contributing to the development of new targeted therapies and improving access to treatments that are not yet readily available.

In addition, genetic approaches can potentially help people feel more empowered and in control. When people understand the risks and chances associated with their disease, they can make more informed decisions, for example around family planning, treatment choices and preventive measures.

For health systems, advanced diagnostics have the potential to improve efficiency and save costs. For example, earlier cancer diagnosis makes treatment much less costly and can reduce the productivity losses associated with more advanced cancer and related treatments – while also protecting people’s quality of life.

Advanced diagnostics and targeted treatments can also reduce spending on multiple diagnostic tests and ineffective treatments for people with cancer or rare diseases that are difficult to diagnose. It should  be said, however, that the evidence base on the impact of advanced diagnostics is constantly evolving.

Why do we need to consider system readiness for advanced diagnostics?

Advanced diagnostics have the potential to transform healthcare, from screening and diagnosis to treatment and monitoring. This is a new and rapidly evolving field, and data on the impact of these technologies are still maturing.

While many studies to-date have shown only modest improvements in outcomes – or improvements in a small proportion of study participants – the value of advanced diagnostics will only increase as we learn more about the genomic markers of disease and how best to treat them. If health systems are to harness the ever-increasing benefits of advanced diagnostics, they must act now to ensure they are ready to incorporate these technologies into routine care, adapting care pathways accordingly.

What should system readiness for advanced diagnostics look like?

Before advanced diagnostics can be integrated into routine care, the required infrastructure must be in place. Investing in the necessary laboratory facilities and an appropriately trained workforce is an important first step. Effective tools for collecting, storing and sharing data, including secure but accessible electronic health records, will be critical to ensure new diagnostic technologies can be used and shared effectively by all members of a healthcare team.

Importantly, data science capabilities must be expanded beyond clinical research settings. Breakthroughs in advanced diagnostics and personalised therapies depend on the collection and analysis of large and diverse data sets. This is best achieved by collecting real-world national or international data and fully integrating data analytics into health systems.

How can we make sure advanced diagnostics are evaluated and used appropriately?

To ensure that advanced diagnostics can support health system sustainability, value frameworks and regulatory processes may need to be adapted – recognising the challenges associated with this kind of testing. For example, it has been difficult to date to demonstrate the cost-effectiveness of advanced diagnostics for various reasons, including inadequate data, the lack of a clear comparator and the potential for a single test to identify any number of genetic alterations – including unexpected or incidental findings – and trigger a broad range of treatment algorithms. Current value frameworks also fail to consider future improvements that will result from decreasing costs of sequencing, increasing identification of actionable genomic targets and escalating development of effective targeted therapies.

In such a rapidly evolving field, decision-makers must be prepared to modify their assessment approach and, at the same time, invest in routine data collection and analysis to ensure advanced diagnostics are always used effectively and efficiently for the benefit of people who need them.
This is latest in a series of opinion posts about health system readiness – read the other instalments on our insights page.



Suzanne Wait, Managing Director of The Health Policy Partnership