This piece is written and sponsored by Ipsen UK
At Ipsen, we are committed to supporting patients with rare diseases throughout their disease journey – from diagnosis through to treatment follow-up. By nature of being rare conditions, many are challenging to diagnose; often, GPs are expected to spot symptoms of conditions that many never see in their entire careers. Around a quarter of people affected across Europe are thought to wait between five and 30 years for a correct diagnosis1, and symptoms are often mistaken for other, less serious issues. In neuroendocrine cancers, for example, symptoms can include fatigue or feeling bloated and over half of patients are thought to be advised by their GP to simply come back if symptoms persist. COVID-19 has further exacerbated referral challenges, with a DATA-CAN report noting a 70% drop of urgent referrals during the pandemic as compared to prior to the pandemic2.
To help overcome some of these challenges, Ipsen Pharmaceuticals has partnered with digital health specialists Mendelian. The partnership – the first of its kind with the digital health company – will utilise Mendelian’s pioneering MendelScan software, which is capable of aiding the rapid identification of people with rare diseases. The software uses state-of-the-art technology, data capture and the latest medical knowledge, and is designed to integrate into NHS systems and scan patients’ electronic health records. It effectively digitalises knowledge that has for years been stored only in books and the brains of the very best specialist consultants, making it accessible to GPs and enabling faster referral and diagnosis.
In January 2021, the UK Government published its Rare Disease Framework, further highlighting the need to urgently improve speed of diagnosis in rare diseases and to make this a real priority. Ipsen has exceptional heritage in rare diseases and, over the past few years, our organisation has worked hard to broaden our offering to patients and health services – bringing new and innovative digital solutions forward that can address some of the most pressing challenges. This pioneering partnership is yet another important step forward on that journey.
Our partnership with Mendelian will be initiated in two rare disease areas: neuroendocrine cancers and rare bone disorders. Through the collaboration, we hope to help grow the potential of Mendelian’s MendelScan and help the NHS and healthcare professionals to diagnose more patients more promptly. We’re thrilled to be leading the way alongside Mendelian with a solution that is fully integrated into the NHS clinical workflow and hope to demonstrate the value collaboration and digital health can have on improving the disease journey for people living with a rare disease. This is just the beginning of our partnership and we are excited to see how it develops over the coming months.
MendelScan software is a Class 1 Medical Device with potential to be applied to many rare diseases. It is built to the highest standards of SaMD regulation and Data Privacy, ensuring that at every step, patient data is secure.
CR-UK-000088 February 2021
1 EURORDIS. Undiagnosed rare diseases at https://www.eurordis.org/content/undiagnosed-rare-diseases accessed Jan 2021
2 Data-Can. Key fact available at https://www.data-can.org.uk/impact-of-covid-19-on-cancer-patients-and-health-services accessed Jan 2021
