Genetic risk assessment for Alzheimer’s Disease

Cytox CEO, Richard Pither explains, “We’ve known for a long time that Alzheimer’s disease has a strong genetic component, but it’s not genetics alone that drives the disease. It’s genetics plus lifestyle. So even those with high genetic risk could see definite benefits to their disease progression if they can manage the lifestyle components.”

To answer this, Manchester-based diagnostics company Cytox has created genoSCORE™ – a genetic test that offers high accuracy in predicting clinical Alzheimer’s disease (82%) and Mild Cognitive Impairment (75%) among both APOE4 carriers and non-carriers. This transformative test will help clinicians introduce lifestyle changes among those at risk, such as exercising more, eating healthily, quitting smoking, and nurturing social connections. The test also helps researchers more accurately segment patients for clinical trials so new treatments can be developed.

The potential impact of Alzheimer’s disease on our health systems is huge. The condition affects over 46 million people around the world, with a forecasted global cost of £800bn in the next decade. By identifying risk early, people are more likely to access the right support that could reduce the rate of decline. This in turn would reduce the burden of care on the NHS.

Collaborators at the University of Cardiff, in partnership with UCL, first developed the algorithm that would become genoSCORE™. It was reasoned that a simpler at-home test would transform how people are screened, how treatments are developed, and how clinicians manage patient care. However, in 2005, when Cytox was founded, there was low appetite for a risk assessment test like this. Treatments for Alzheimer’s disease weren’t available, and clinicians didn’t understand the benefits of lifestyle changes to mitigate symptoms. Fast forward 15 years and the environment is changing rapidly. Treatments are now coming to market from Eisai and Eli Lilly, making the genoSCORE™ test even more valuable to patients and clinicians.

Initially, Cytox used private investment to develop its product. Then in 2015, it was awarded the first of its £1.5m grants from Innovate UK to help it pivot from a blood-based test to a saliva-based product. The funding enabled Cytox to work with key academics from Cardiff University and UCL to conduct important validation studies. Richard also reflects, “The grants were great, but you also need funds from elsewhere. Working with Innovate UK and having their external review and approval of what we were doing, given by independent experts in the field, was an important step. It allowed us to continue our relationship with our investors and gave them the confidence to support this pivot in technology. It also helped us attract new investors.”

To date, Cytox has secured £13m of investment in a series of rounds led by Greater Manchester & Cheshire Life Sciences Fund and Maven Northern Powerhouse Investment Fund. The data from the clinical studies helped Cytox to develop a saleable product that could be CE and UKCA marked. It has also used the grant, and subsequent investment, to recruit experienced staff from AZ and Qiagen to aid its commercialisation and commercial expansion. Now, its European product is available in the UK and through clinics across the US.

In June 2023, Cytox began to sell the test direct to UK patients, partnering with Mynurva to provide counsellor support that helps people understand and act on their personal risk score. Overseas, Cytox has partnered with Sampled which offers the test to over 170 private health clinics registered to use its US product, the Alzheimer’s Risk Test. Plans are also in place to introduce a consumer-initiated product into the US market later in 2023, working with Sampled, 1Health and DNA Ally. Therapy-wise, Cytox is keeping its sights firmly focused on dementia, but the potential is exciting.

Overall, people are taking far more of an interest in future health with a view to taking steps to mitigate overall risk. Where we see this moving is that there will be very specific targeted drugs that will be useful for individuals with specific genetic characteristics. We’ll be able to assess risk and hopefully go on to treat many more people in a much more personalised way.

– Richard Pither, CEO of Cytox