Rare Diseases are our priority
Rare diseases are not rare
More rare diseases are life-threatening condition that are collectively common. In fact, 1 in 17 of us will be affected by a rare disease in our lifetime. This is comparable to common diseases such as diabetes and asthma.
Often misdiagnosed
Rare disease symptoms often develop gradually and in different organ systems. This means patients present to different doctors for seemingly independent reasons making these diseases difficult to diagnose.
Patients endure avoidable complications
On average, rare disease patients experience 3 misdiagnoses, visit 5 different doctors and wait over 4 years before receiving a diagnosis in the UK.
Rare diseases are expensive
Our commissioned health economics report found that undiagnosed rare diseases have cost the NHS in excess of £3.4 billion in the past decade.
MendelScan brings early disease identification to
healthcare providers
Find out how it works
Behcet's disease
In a retrospective study, MendelScan highlighted fourteen patients with clinical features of Bechet’s disease, only two of which had received a diagnosis through traditional methods.
For one patient, MendelScan would have enabled their healthcare provider to:
- Make the diagnosis four years earlier
- Reduce the cost of the diagnostic odyssey by 76% (£13,079)
- Avoid 3 unnecessary referrals and 1 misdiagnosis
Ehler-Danlos syndrome
In a retrospective study, MendelScan highlighted twelve patients with clinical features of Ehler-Danlos syndrome. MendelScan could have enabled their healthcare provider’s to:
- Make the diagnosis three years earlier
- Reduce the cost of the diagnostic odyssey by 35% (£4,739)
- Avoid 4 unnecessary referrals and 2 GP visits
Behcet's disease
In a retrospective study, MendelScan highlighted fourteen patients with clinical features of Bechet’s disease, only two of which had received a diagnosis through traditional methods.
For one patient, MendelScan would have enabled their healthcare provider to:
- Make the diagnosis four years earlier
- Reduce the cost of the diagnostic odyssey by 76% (£13,079)
- Avoid 3 unnecessary referrals and 1 misdiagnosis
Ehler-Danlos syndrome
In a retrospective study, MendelScan highlighted twelve patients with clinical features of Ehler-Danlos syndrome.
MendelScan could have enabled their healthcare provider’s to:
- Make the diagnosis three years earlier
- Reduce the cost of the diagnostic odyssey by 35% (£4,739)
- Avoid 4 unnecessary referrals and 2 GP visits
Clinicians must be empowered and supported to identify which patients require genomic testing, to identify the appropriate genomic test to offer their patient and to capture the phenotypic information required for an effective referral. Clinicians must also know how to seek expert advice, which services to refer the patient to, and how to handle findings that are based on genomic analyses.
Genome UK: The future of healthcare 2020
This rare disease diagnostic odyssey is expensive for the health care system and prevents timely access to treatments. Every European Union country has a Rare Disease plan
Chief Medical Officer’s Report 2016: Generation Genome
Mendelian fits into the NHS Long Term Plan and UK Strategy for Rare Diseases
Find out now
