The generation of Mendelian’s evidence portfolio

Mendelian is a digital health company that focuses on building tools to help clinicians detect hard to diagnose diseases.


  • Their flagship product MendelScan, is a set of algorithms that search electronic health records for indicators of rare, or hard to diagnose, diseases.
  • The MendelScan algorithms capture disease features from electronic health records across a patient population.
  • Patients are matched to published diagnostic criteria or national guidelines and a clinical report is generated for each patient which describes their suspected disease, why this patient has been identified and suggested next steps to take in the diagnostic pathway.
  • This empowers healthcare providers to decide the best way to help each patient by combining their clinical expertise with the novel insights from MendelScan.

The work by Mendelian is a major step towards identifying undiagnosed patients and halting the diagnostic odyssey

– Medics4RareDiseases

Accelerator support:

  • During Mendelian’s initial on-boarding meeting with the DigitalHealth.London Team, it was established that evidence generation was a key priority for the team. Through the DigitalHealth.London Generator workshops and support from their NHS Navigator, Mendelian were supported in identifying their tier on the NICE Evidence Standards Framework, completing a gap analysis on their current evidence and establishing an evidence generation strategy as well as future academic priorities.
  • The team were also successful in applying for Primary Care Digital Health Evidence Pitching Event, co-sponsored by DigitalHealth.London and the NIHR London Clinical Research Networks and were able to pitch their research evidence generation plans to a group of experienced primary care researchers – a collaboration with an established academic group is currently being finalised.
  • Another key research focus for the Mendelian team was to focus on the Health Economic Case for the MendelScan. With support from key experts within the DigitalHealth.London team, Mendelian were able to build a Budget Impact Model looking at the possible savings to the system.

The process was really straightforward and interesting.

– Jane Roper, Research Lead and Advanced Nurse Practitioner, Hertfordshire

Key impacts of the product:

MendelScan directly meets the key objectives of the NHS Long Term strategy such as enabling earlier diagnosis, and better outcomes for rare disease patients. It also aligns with the UK Framework for rare disease in particular the first priority: improving rare disease diagnosis and the underlying theme – better use of data and digital technologies.

It’s great that you are doing these things and thinking about what might be the cause of my problems, even when I am not sat in your surgery.

– Patient

Key successes so far:

  • MendelScan is currently being implemented in NHS practices, with a roll out to more than one million patients planned in 2021.
  • Mendelian is a working with two Genetic Medicine Service Alliances on NHS England funded projects. Deploying MendelScan in partnership with local genetic services.
  • Mendelian has also recently partnered with Ipsen Pharmaceuticals, a collaboration to support the faster diagnosis of rare diseases across the NHS. Several other commercial partnerships are in final stages of contracting.
Dr Will Evans Clinical Lead, Mendelian
The DigitalHealth.London Accelerator has been invaluable in helping us build our portfolio of evidence. Developing case studies to further demonstrate the benefits of MendelScan to patients and how to capture the system wide health service efficiencies that earlier rare disease diagnosis can have. The team have assisted us with challenging topics and shared their significant knowledge of the NHS, this has helped us make good headway on our evidence generation journey and plot the path ahead.

Mendelian is currently one of twenty SMEs on the DigitalHealth.London Accelerator programme.

The DigitalHealth.London Accelerator is a collaborative programme funded by London’s three Academic Health Science Networks – UCL Partners, Imperial College Health Partners, and the Health Innovation Network, MedCity, CW+ and receives match funding from the European Regional Development Fund.