NHS problem

The journey to diagnosis is often long and stressful, frequently with several misdiagnoses until a final, correct diagnosis is reached. The average time to diagnosis for a rare disease is five years in the UK, with some waiting over 30 years and others never diagnosed. Without a diagnosis it can be impossible for patients to access appropriate care and treatment and without intervention or diagnosis, a patient’s health can significantly deteriorate.

The existing rare disease diagnostic odyssey is expensive for the health care system and prevents timely access to treatments: undiagnosed rare diseases have cost the NHS in excess of £3.4 billion in the past decade. 10% of NHS budget in 2016 was spent on rare diseases and rare disease patient will cost a hospital £13k in 10 years in hospital visits – double that of other patients

The solution

Mendelian’s software solution (MendelScan) supports earlier diagnosis of rare diseases – the first tool that addresses rare diseases as a whole and integrates diagnosis into a healthcare system. Using MendelScan, plus a team of international rare disease experts, they support doctors to refer patients to the right specialist, enabling faster diagnosis and treatment.


In an example, using MendelScan to help diagnose Behcet’s disease – Mendelian saved three and a half years of patients’ diagnostic odyssey as well as saving the patient £876 incurred in the three years before diagnosis. On average patients would have otherwise faced 41 laboratory tests, seven clinical visits and four specialist referrals during this three year period.