Improving rare disease detection
changing lives

MendelScan brings early rare disease identification to primary care

Providing NHS services

Individually rare,
collectively common

8,000

Distinct rare
diseases

1 in 17

People are affected
by a rare disease

3.5 m

People in the UK
with a rare disease

3.4 bn

Cost for un-diagnosed
rare diseases

Finding the undiagnosed

Rare diseases are hard to diagnose. There are thousands of rare diseases, symptomatic presentation is varied and complex, and diseases are often multi-systemic. Because of this, it’s difficult for doctors to recognise these complex patterns and connect the dots. With the rapid advances in disease research, clinicians are under ever growing pressure.

Get in touch for more information on how Mendelian & how our technology can improve rare disease detection in primary care.

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We’re helping doctors to diagnose rare diseases and help patients earlier

For many patients with an undiagnosed rare disease, the journey to treatment is a long one

The route to treatment for many rare disease patients is a complex one - characterised by multiple visits to doctors & specialist, repeat misdiagnosis, inconclusive tests, and ineffective treatments. Without an accurate diagnosis there can be no effective treatment for the condition.

4+
Years
5+
Doctors
2+
Specialists
3+
Mis-diagnosis
4+
Years
5+
Doctors
2+
Specialists
3+
Mis-diagnosis

For the NHS, patients without a diagnosis can cost more than double than those who receive a diagnosis

Undiagnosed rare disease patients place a significant clinical burden on the NHS. Costing more than double a diagnosed patient, undiagnosed patients also incur 33 unnecessary tests, investigations, specialist referrals and clinical visits.

£5,900
Diagnosed Patient
£13,300
Undiagnosed Patient
Health economic study of the potential impact of rare diseases on the NHS.
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Our technology,
How MendelScan works

Seamless integration

The MendelScan algorithm captures disease features from electronic health records across a patient population.
Requiring no management from the GP, MendelScan seamlessly integrates with clinical systems and actively scans patient EHRs for the complex, 100’s of multi systemic symptoms which may indicate a rare disease.

Detecting the undiagnosed

Patients are matched to published diagnostic criteria for rare diseases.
MendelScan runs a clinically validated detection algorithm which flags EHRs that exhibit symptoms common with rare and hard to diagnose diseases. These undiagnosed cases are then matched with a potential undiagnosed rare disease.

Clinical expertise

Mendelian’s Clinical Team and Disease Specialists perform an extended medical history review.
Every MendelScan report is backed by decades of extensive clinical experience. Detected cases are carefully assessed by our clinical team to confirm the rare disease diagnosis.

Diagnostic pathways

GPs will receive a detailed MendelScan report describing the suspected disease, why it’s suspected for that patient and the diagnostic pathway.
All MendelScan reports include recommendations for specialist referral and treatment so GPs can implement appropriate care reducing clinical burden and ensuring fast patient treatment.

Reducing clinical burden

Healthcare providers decide the best way to help each patient by combining their clinical expertise with the novel insights from MendelScan
MendelScan enables doctors to help diagnose rare disease patients quicker, ensuring they get the right treatment they need and reducing the clinical burden on the NHS.

MendelScan brings early disease identification to
patients & doctors

Faster patient treatment
MendelScan enables doctors to diagnose rare diseases and help patients earlier.
Aligned with clinical workflows
Requiring no management from the GP, MendelScan seamlessly integrates with clinical systems and scans patient EHR’s for 100’s of rare disease symptoms against proven clinical algorithms, identifying undiagnosed patients.
Effective route to treatment
Once detected, patients' cases are validated by Mendelian, then flagged to the GP with a detailed report explaining the condition and recommending treatment pathways.
Reduces clinical burden
MendelScan can significantly reduce the clinical burden on the NHS, saving both clinical time and costs associated with undiagnosed rare diseases cases.
Costs
Undiagnosed rare disease patients can cost more than double than patients who receive an early diagnosis. (£13,300 vs £5,900 over 10 years).
Touchpoints
Early diagnosis of rare diseases can also save the need for 33 unnecessary patient interactions ranging from lab tests, investigations, clinical visit’s and specialist referrals.
13xTier-1 lab tests
3xTier-2 investigations
6xClinical visits
3xReferrals
8xPrimary care appointments
Improves patient experience
Quick diagnosis
Rare diseases are quickly identified, giving GP’s the information they need to progress treatment for the patient. On average, 4.4 years earlier than standard care
Focused testing
Removes the need for unnecessary testing, which takes time, costs money, and delays patient treatment.
Specialist pathways
Health care providers can implement appropriate care and treatment to the patient.
Treatment
Patients get the specialist treatment they need.

Developed by doctors
for primary care

Light touch
implementation

Fast, seamless integration with your existing medical platform. Fully integrated with GP clinical systems.

Doesn’t take away
from clinical time

MendelScan actively works in the background, there is no additional software for clinicians to learn or use.

Specialist pathway
recommendations

Reports are sent directly to practice with clear pathway recommendations for specialist referral & treatment.

Light touch implementation

Fast, seamless integration with your existing medical platform. Fully integrated with GP clinical systems.

Doesn’t take away from clinical time

MendelScan actively works in the background, there is no additional software for clinicians to learn or use.

Specialist pathway recommendations

Reports are sent directly to practice with clear pathway recommendations for specialist referral & treatment.

What makes
Mendelian unique

Industry leader in rare disease detection, our mission is to end the diagnostic odyssey for rare disease patients within primary care. Working closely with UK primary care we have developed an effective clinical solution to the highest standard’s that meets the demands of doctors and patients.
MendelScan is currently implemented in over 50 NHS practices and delivering benefit to 1 million patients, with a further roll out to 4 million patients planned in 2021.
Mendelian has also been selected as a Primary Care partner to NHS GMSA to establish Primary Care to Genetics Screening pathway.
You can find more detailed information about Mendelian in our product knowledge base.
FAQ
Faster patient treatment
With MendelScan there is no lengthy implementation process, on-going maintenance or need for additional staff systems training.
Our solution is aligned to NHS primary care workflows which enables fast and efficient roll out and near instant benefit delivery, reducing clinical burden and accelerating patient diagnosis and treatment.
Data integration
MendelScan is seamlessly integrated with NHS clinical systems and EHRs.
Operating to the highest ethical standards MendelScan is rated as a class 1 Medical Device and all patient data is de-identified to ensure data security.
MendelScan is fully integrated with GP clinical systems.
Diagnosis pathways
Rare diseases require specialist treatment, so detecting undiagnosed patients is only part of the solution.
With MendelScan, clinicians will receive a detailed report highlighting the rare disease case and outlining a clear pathway for specialist treatment or referral.
Alleviating the burden placed on the GP to progress appropriate patient treatment

End the diagnostic odyssey
with Mendelian

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Built on medical expertise

Mendelian is backed up with years of clinical experience, with a team of passionate doctors, engineers and strategists with the singular mission to eliminate the diagnostic odyssey for rare disease patients.

Rudy Benfredj
Co-founder & CEO
Healthy.io, NASA Ames
Fran García
Co-founder & Non-excutive chairman
Novartis, Chiarezza, Admiral
Dr Will Evans
Clinical lead
NHS GP, Niemann-Pick UK
Dr Sunny Khan
Clinical strategy
WHO, NHS GP, NICE
Hadley Mahon
Head of commercial
Huma, Pfizer
Jez Stockdale
Head of strategy
Kamet, N1X10, NHS advisor treasury
Margot Radicati di Brozolo
Business development
IQVIA
Chanaka Ranawickrema
Business development
Medloop, EMIS, Novartis
Dr Orlando Buendia
Head of clinical operations
PanAm health organisation

Benefits calculator

Choose your CCG:

Patient Benefits

Invasive tests saved
Diagnostic x-rays saved
Diagnostic scans saved

NHS Benefits

Referrals avoided to secondary care
GP appointments saved
Contact us for more details on our cost savings analysis. You can also check out our publications here.