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The pathway to bring ‘Rapid Point-of-Care Genetic Testing’ to patients who need it

By genedrive CEO, David Budd




David Budd, CEO of genedrive, a molecular diagnostics company, says adoption of point of care genetic testing in emergency settings will help save lives and money.

However, innovators need to work to persuade healthcare funders to adopt these life-saving technologies.

Pharmacogenetic testing is an established and advancing health technology that tracks how a person’s genes affect their body’s response to medical treatments.

In the UK’s publicly funded National Health Service (NHS), pharmacogenetic testing, as far as it has been implemented, has been predominantly focused on screening – for example, predicting the future risk of chronic diseases such as diabetes or for other serious life threatening diseases with hereditary risk such as cancer.

However, these results typically take up to two weeks for results to return from the lab.

Delays are common, caused mainly by a mix of testing backlogs and administrative requirements such as the need for clinicians or managers to write, review and sign off on reports.

These delays can put patients at risk.

And it’s a particular problem for patients whose genetic profiles make them susceptible to adverse reactions to medicine administered under standard clinical protocols (for example, in an emergency setting).

Acute health conditions may demand urgent analysis.

Opportunities for at point-of-care testing

The good news is that advances in pharmacogenetic test technology are enabling opportunities for more personalised medical responses such as rapid point-of-care-testing (POCT) which can be used by clinicians literally at the patient’s bedside.

POCT offers the potential for a test result within an hour, which is integral to successful treatment in emergency situations.

POCT helps clinicians working in emergency settings to discover rapidly which medicine or other intervention should be used – or not at all – and whether a patient’s genetic code could put them at risk of an ‘adverse event’, i.e. serious injury or death if an inappropriate medicine is administered.

One example is genetic testing to determine if a new born baby can safely receive a type of antibiotic called gentamicin.

Gentamicin is widely administered to newly born babies to prevent a range of potentially fatal infections, such as sepsis.

In the UK, around 90,000 newborn babies contract infections in this category each year.

While gentamicin is safe and effective for most infant patients, one in five hundred babies have a gene variant which exposes them to the risk of a side-effect of permanent hearing loss if wrongly prescribed.

A recent UK hospital study published in the Pediatric Journal of the American Medical Association suggested that use of genetic testing technology could significantly reduce the number of babies who suffer hearing loss simply by alerting clinicians before administering the treatment.

Significant progress in emergency genetic testing is also being carried out in the field of strokes. With a population of around 67 million, the UK records around 100,000 stroke incidents every year.

This results in 38,000 deaths and long-term disability for about two-thirds of people who survive, costing the NHS £3.4 billion.

However it has been estimated that the societal cost (loss of productivity in stroke victims of working age, unpaid carer hours) means the actual cost to the economy could be as high as £26 billion annually.

UK health technology appraisal agency, the National Institute for Health and Care Excellence (NICE), is compiling guidance on the benefits of genetically screening stroke patients prior to the administration of clopidogrel.

The medication is commonly given after an ischemic stroke or transient ischemic attack to reduce the likelihood of further blood clot formation.

It’s estimated that over 20 per cent of patients don’t respond effectively to clopidogrel due to their personal genetic codes, meaning poorer health outcomes and money lost to ineffective treatment.

The cost of adverse reactions to medicines is estimated at around £380 million in the UK NHS and accounts for 6.5 per cent of hospital admissions.

It is likely that these costs would be comparable across other healthcare systems, whether funded by public taxation or a mix of funding from insurance and other routes.

And it’s evidence that, besides the clinical impact, POCT can deliver considerable economic benefits for healthcare systems.

Ways to open up pharmacogenetic testing

As the UK healthcare system is publicly funded from central government, it often requires national level approaches for an innovation to be adopted at a local hospital level. This can take time.

Genetic testing has lagged in the UK against other European countries. However, a national approach has the virtue of standardising and planning the uptake and ensuring more equitable access for all patients.

That’s why our team at genedrive are engaging with local NHS hospital Trusts and regional NHS research networks to build the evidence base for how pharmacogenetic testing can work in a variety of emergency settings, including maternity care.

For example, we have supported Trusts by providing health economic modelling tools to help them assess how many patients can avoid adverse events and the associated costs.

In this way, we can demonstrate how POCT technology brings overall cost savings together with an additional layer of protection for administering medicines to patients at risk of adverse reactions.

This incremental decentralised approach is especially valuable at a time of cost pressures in the NHS, with the public finances situation in the UK.

While genetic testing has lagged in the NHS, paradoxically, UK-based innovation has been one of the world’s leaders in supplying rapid bedside genetic testing, making fast and safer monitoring of adverse reactions to antibiotics available and creating better health outcomes for conditions such as sepsis and strokes.

Our approach in the UK has been to demonstrate the evidence to key medical opinion leaders to build a consensus across the health service – evidence which is also relevant in other healthcare systems in Europe where there is a mix of public, private insurance and other funding.

We are engaging with healthcare payers in several large European countries to show how genetic POCT can deliver improvements in patient care.

With determination and effort, genetic testing for emergency care can be realised for many more patients across diverse healthcare systems in Europe and beyond.

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