Developments in the diagnosis of disease for medicine and public health

Overview of change

Public health is ”the art and science of preventing disease, prolonging life and promoting health through the organized efforts of society”.¹ Early detection of diseases (such as chronic inflammatory diseases, cancer or dementia) improves health outcomes, reduces costs for health and social care systems, and is a key component of public health programmes.^2–7 Similarly, disease prediction can inform targeted interventions, reaching those individuals most at risk (while avoiding unnecessary testing for individuals at low risk), improving outcomes, and reducing time and treatment costs.^6,7

There is increasing focus on developing better diagnostic technologies and disease prediction tools. Examples include minimally invasive technologies (such as ingestible sensors, or diagnostics that use hair or breath as a sample), artificial intelligence-based tools and portable diagnostic kits.^8–16 Many of these technologies require further development and adequate funding before being widely deployed.

Patient trust, adequate staff training, consideration of the ethical aspects of these new technologies (especially those involving AI or genetic testing) and equity of access are required for widespread adoption of new diagnostic technologies and disease prediction tools.

Challenges and opportunities

The Research and Development (R&D) landscape in the UK is mainly driven by the private sector, but the public sector has a key role in supporting innovation in a variety of fields, including health (see The Future of UK Research). Health innovation can be encouraged through allocated research funding, targeted technology development programmes such as the NHS Innovation Accelerator (NIA), and better alignment among different stakeholders, including academia, regulators, industry and the health service.^17–20 The NHS Accelerated Access Collaborative, set up following the 2016 Accelerated Access Review, is a partnership between patient groups, government bodies, industry and NHS bodies to promote the adoption of new technologies in the NHS.^21,22 It has highlighted that engagement with patients, charities and clinicians is key to the prioritisation and adoption of technologies in the NHS.

Disease diagnosis and prediction technologies continue to be developed for a wide range of applications. Examples include minimally invasive techniques for the detection of specific cancers or hormone levels in women seeking fertility treatment.^8,10 Blood tests are being developed to detect early markers for certain neurological conditions in newborns (such as severe disability following difficulties at birth) or older adults (such as Alzheimer’s disease).^37,38 Genetic testing can detect certain cancers or can be used to screen embryos.^39–41 AI-based diagnostic tools have been used to examine stool samples, monitor heart function, or analyse scans and pathology from biopsies.^11,42 And finally, point of care kits are being developed to diagnose cancers (by analysing biopsies obtained by needle aspiration) or infectious diseases (from example, from a blood sample).^12,13

Issues related to the adoption of these new technologies include facilitating commercialisation and industry access to the NHS, ensuring sufficient test accuracy to minimise the rate of false test results, and confirming that datasets can be shared appropriately to develop future disease diagnosis and prediction tools. Patients need to be engaged to properly inform them about new technologies and foster trust in the testing of new technologies within the NHS.

Finally, widely embedding innovation in the NHS, regardless of differences between local trusts, is a key challenge in the UK. In February 2021, the UK Government published ‘Integration and innovation: working together to improve health and social care for all’, a white paper setting out legislative proposals for a Health and Care Bill. One of the key aspects of this document is to reduce bureaucracy, with the potential to facilitate the embedding of innovation in the NHS.^43,44 The House of Commons Health and Social Care Committee has started an inquiry to analyse the white paper proposals.⁴⁵

Key unknowns

It is unclear how and when these tools will be widely available. Further research, safety assessments, regulatory approval and staff training are needed. There is also a need to ensure that services can cope with the consequences of more proactive testing, including follow on tests and treatments.

In August 2020, the UK Government announced the creation of, a new public health body (originally called the National Institute for Health Protection) to replace Public Health England (PHE)^46–48 PHE has been responsible for the coordination of NHS-led screening programmes so far and it is currently unknown how its role in disease prevention will change with the establishment of the new institute.⁴⁹ On 24 March 2021, the Government published a white paper describing the aims of the new agency (now titled ‘UK Health Security Agency’), where it is stated that “options for the placement of expert advice on screening […] and the national screening programme quality assurance functions (currently provided by PHE)” are currently being considered.⁵⁰

Key questions for Parliament

• Is there adequate funding for the development of better disease prevention and diagnostic tools?
• Will the changes proposed in the UK Government’s Health and Social Care white paper be adequate to support innovation within the NHS?
• How can we streamline and accelerate the implementation of new tools and pathways for early diagnosis in the NHS?
• How easy and equitable is patient access to innovative medicines and diagnostics?
• Are the ethical implications (including patient privacy and right of choice) of new innovations being adequately considered?
• Is enough being done to support public engagement with the development and use of these technologies?

Likelihood and impact

Better disease prevention and diagnostic tools have the potential to reduce NHS spending and improve population-wide health outcomes. Overall: high impact, impact felt within the next 5 years.