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Genetic testing will deliver personalised medicines for UK patients but progress needs to accelerate




David Budd, CEO of genedrive, explains why the national rollout of pharmacogenetic testing will result in safer and more effective treatment for everyone, and create a remarkable cost-saving opportunity for our stretched healthcare services.

Genetic testing is not a new concept. In fact, it was first introduced into our healthcare system back in the 1960s (albeit on a modest scale).

Advances in genetic testing, expanding knowledge of its potential applications, and the austerity currently facing the country are all arguments for greater integration of genetic testing into routine care, not only for screening and diagnostic purposes, but to guide safe, effective prescribing.

But a recent report has highlighted that there is still some way to go before we can harness the full potential of genetic testing and reap the rewards from both patient care and economic perspectives.

The UK’s slow integration of genetic testing into clinical care, risks jeopardising a capability at the forefront of genomics that was demonstrated during Covid-19.

UK genetic testing lagging behind

The Association of the British Pharmaceutical Association (ABPI) recognises the UK as a leader in genomics, but our clinical application of genetic testing has failed to keep pace.

Compared with our European counterparts, we have a slower turnaround time for test results and the breadth of conditions we test for (particularly in baby screening programmes) pales in comparison.

The structure of our health system could be obstructing the effective clinical application of genetic testing.

The UK provides nationalised medicine, compared to many other countries that offer a mix of socialised, nationalised, and private.

Competition within the private sector drives quicker uptake of new technologies and approaches, as these institutions and systems need to be at the forefront to retain their clients and payers.

The implementation of pharmacogenetic testing is not straightforward.

ABPI’s report, published on 3 November 2022, defines recommendations for the NHS and pharmaceutical sector on the introduction of genetic testing.

These include standardising referral pathways and timelines, education and training programmes, optimising data access, and cooperation with other bodies to optimise future applications and align with NHS England’s genomic strategy.

National rollout is needed to guarantee fair access for everyone, which requires a sustainable infrastructure incorporating genomic hubs and testing services.

Unfortunately, these services are already under pressure from newborn whole genome testing (the next stage of the UK Newborn Genome Programme commences in 2023), cancer-related genetic testing, and other current applications.

This is where point-of-care testing fits in. Bedside tests negate the need for laboratory testing and avoids treatment delays.

They are particularly valuable in cases of neonatal sepsis, where antibiotics must be given within the ‘golden hour’ (our MT-RNR1 test gives a result in just 26 minutes), or for stroke victims, who simply can’t wait six weeks before starting antiplatelet treatment.

The ability for nurses to perform rapid genetic testing at the bedside is a new opportunity made available by the advent of molecular point of care instruments.

Benefits of pharmacogenetic testing: avoiding adverse drug reactions and optimising treatment

More than nine in ten people carry a genetic variation that could alter their response to a drug.

Identification of individuals carrying these polymorphisms is important to ensure they are receiving efficacious treatment, don’t suffer unintended side effects, and contribute to wasted health expenditure.

Painkillers, antiplatelet medications, antibiotics, and antidepressants are among the commonly prescribed drugs with existing pharmacogenetic implications that could in future be better managed with molecular testing in acute care.

A well-established example is clopidogrel, an antiplatelet medication prescribed following a stroke to reduce the risk of subsequent cerebrovascular events.

It is a prodrug relying on an enzyme (CYP2C19) to convert it into its active form. Up to one in five people carry CYP2C19 gene variations that prevent them from converting it into its active compound.

Failure to metabolise the drug into its active form efficiently or fully may leave them vulnerable to further strokes.

Genedrive’s CYP2C19-ID testing kit identifies people carrying the loss-of-function mutation conferring inadequate metabolisation of clopidogrel and gives metabolic information for a wide range of disease states reliant on this enzyme.

Patients carrying non-metabolising gene variants can be given alternative treatments promptly following a bedside test in about 1 hour.

A second example is safer prescribing of antibiotics in neonates. Gentamicin is an aminoglycoside antibiotic used in the emergency treatment of a multitude of infections, including neonatal sepsis.

One in 500 people carry a gene variant – MT-RNR1 m.1555A>G – which makes them susceptible to the catastrophic side-effect of permanent hearing loss.

Our rapid point-of-care genetic test – MT-RNR1 – identifies carriers of this mutation and makes the life changing outcome of deafness, due to genetics, virtually avoidable.

This allows clinicians to dispense an alternative antibiotic – even in emergency scenarios – preserving the hearing of up to 1000s of babies globally every year.

Reduce the burden on our stretched healthcare system

Genetic testing streamlines healthcare by stripping out the cost of pointless prescriptions and hospital admissions relating to adverse drug reactions –  believed to cost the NHS £530 million each year.

With one in eight people currently on an NHS waiting list, avoiding one million hospital admissions for adverse drug reactions will save valuable time and resources.

And the cost savings don’t end with drug reactions. Up to £5 million each year could be saved on hearing loss interventions by using MT-RNR1 testing and subsequently avoiding gentamicin in those vulnerable to ototoxicity.

Similarly, by identifying patients who don’t metabolise clopidogrel, strokes that carry an annual NHS cost of £3.4 billion, and societal cost of £26 billion (loss of working hours and unpaid care) could be significantly reduced or avoided, by prescribing an alternative drug.

Personalised medicine is the future

Genetic testing has come a long way since the 1960s.

We have an incredible opportunity to personalise medicine for everyone and eliminate severe adverse drug reactions to many medications while giving patients the best possible treatment outcomes – in some cases, without leaving the bedside.

But there is still some way to go to achieve full implementation, and progress needs to accelerate.

By knowing which genetic variants a person carries, we can predict their response to 40 to 50 common medications, giving them the right drugs, at the best dose for them, when they need them the most.

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