Dr Peter Fish, Mendelian

Good to see you. Can you tell us more about Mendelian?

Mendelian was established to shorten the diagnostic journey for patients for rare and hard to diagnose diseases. These diagnostic journeys are often poorly managed – with rare disease patients waiting an average of four years for their diagnosis.

Clinicians do not have in-depth knowledge of 10k+ rare diseases – most of which they will never see. Which creates a challenge for when a patient with a rare or hard to diagnose condition walks through the door, as a clinician will not have diagnosed or managed a similar condition before. The problem is also multi-systemic – patients may present with a range of symptoms managed by different clinical specialisms in silos and hence nobody is able to ‘join the dots’. 

Mendelian’s founders realised that this was a ‘large information’ problem – the need for the right information to be with the clinician at the right time.

Mendelian developed a platform, MendelScan, a clinical decision support tool which scans primary care medical records at scale against clinically validated detection algorithms for rare and hard to diagnose diseases. The platform is disease agnostic looking for clinical patterns in primary care data.

This data can be anything in a structured format contained within an electronic patient record – including SNOMED CT (structured clinical vocabulary) and quantitative data from blood tests, weight and height etc.

Who have you created MendelScan for?

Our direct users are clinicians and administrational users in primary care – our ultimate beneficiary, the patient, does not see the system in operation. 

We currently have 35 rare disease algorithms deployed and have encoded criteria for more than 100 diseases. When patients are matched to case finding criteria, clinicians receive a MendelScan report describing the suspected disease, why it’s suspected for that patient and the diagnostic pathway. The clinician then has autonomy on the next stage of the care pathway – including review, referral and further testing.

Our platform is used across the life-course including to aid the diagnosis and monitoring in children – over 70% of rare conditions start in childhood.

What would you say are your successes on your scale-up journey?

This week we reached our 10 millionth patient-disease scan! This is a big milestone for us. And I’m incredibly proud of the Mendelian team.

Our early deployment was in 2019, and although this slowed during the pandemic, we’ve completed 85% of patient data scans in the last 6 months and we are confident about this growth in 2023.

We are actively growing our clinical footprint and increasing our algorithm coverage. We have just deployed an algorithm for PTEN hamartoma tumour syndrome (PHTS). Sadly, these patients are genetically disposed to various cancers, if we can find them early, they start cancer screening programs early which really boosts the chances of better long-term outcomes. 

Additionally, we’ve built a really powerful familial hypercholesterolaemia (FH) tool that we’re piloting in a few GP practices. FH has an estimated prevalence of between 1 in 250 to 1 in 500 people and only around 7% of these patients are thought to be diagnosed in the UK. Life saving treatment is available for these patients if they can be found.

We’ve been successful with Innovate UK grant funding – including over £500,000 awarded to fund implementation of our specialised screening system, in partnership initially with the Eastern Academic Health Science Network (EAHSN) and NHS East & North Hertfordshire Clinical Commissioning Group (CCG).

In the last year we’ve locked in pharma contracts with 8 major clients – 18 months ago we had none.

And when we talk about success, I’m proud of our great relationship with Modality NHS Partnership, the largest GP super-partnership in the UK, covering eight regions from North Yorkshire to Mid Sussex. Together we’re aiming to deliver one of the biggest ever primary care-focused rare disease diagnosis programme in the UK, to improve rare disease diagnosis and enable quicker access to better care.

What connections / partnerships are you seeking to make for the next stage of your business growth?

We have two areas of strategic focus for our expansion next year. 

The first is working with pharmaceutical companies – deepening our existing relationships and winning new clients for hard to diagnose diseases. 

The other area of focus is our engagement with the NHS. We’d like to work and partner with ‘umbrella’ and system-level institutions to allow larger scale access to electronic patient records (EPR) data – so Integrated Care Systems, EPR suppliers and large GP partnerships (super partnerships). 

To grow our presence in the NHS, win contracts with pharma and expand internationally into Europe, we’re opening a £5-6M Series A round, we’re lining up a number of strategic investors from pharma-backed funds and looking for a strong, innovative VC lead. 

We’d also like increased engagement with patient advocacy groups specific to rare diseases – although rare diseases are by their name ‘rare’, they are collectively common, affecting 1 in 17 people at some point in their lives. So, if you think of that as about 3.5 million people in the UK and 30 million people across Europe – it’s vital that we continue to respond to the diagnostic challenge.

And finally, can you tell us about your experience of participating in the P4SY Accelerator Programme?

Our team has loved participating in P4SY. We’ve seen direct benefits to Mendelian through connections to NHS partners in the South Yorkshire area and to key opinion leaders and specific rare disease leads in the NIHR infrastructure.