Collectively, rare diseases have a larger impact than the name suggests, affecting one in 17 people1 at some point in their life and with an average diagnosis time of five years2.
Mendelian is a UK-based digital health company that has developed MendelScan, a tool which uses artificial intelligence algorithms to analyse patient electronic health records. The algorithms can identify patterns that are associated with an increased likelihood of the patient being affected by a rare or difficult-to-diagnose condition, and alert healthcare providers to follow-up with the patient.
The Department of Health and Social Care provided funding for a research project to validate the effectiveness of MendelScan. The project involved testing the algorithms on publicly available, anonymised patient data. Mendelian’s team of data scientists analysed the data and tested the algorithms’ performance.
Their findings were striking, demonstrating the potential for routinely collected patient data to facilitate earlier and more accurate diagnoses of rare diseases.
Mendelian commissioned Health Innovation East to facilitate the transformation of their research findings into a high-impact academic paper for publication.
This presented a significant challenge, given the breadth of data from multiple rare disease algorithms, to consolidate the findings into a cohesive and impactful paper. Recognising this complexity, Health Innovation East’s consulting team provided tailored support, beginning with a thorough understanding of the research’s context, scope, and Mendelian’s specific needs.
Identifying patients with undiagnosed rare disease is like looking for “needles in a haystack”. We build algorithms to find these “needles” and a component of this project was to generate evidence of how these perform on a deidentified dataset. The support from Health Innovation East has been invaluable, with a senior advisor seconded right into our organisation. With their guidance, we managed to bring all our work on this together, with a very strong academic paper as the output.
Thanks to the dedicated support from Health Innovation East, a range of essential activities were completed over a six-month period. Firstly, our senior advisor carried out in-depth research to understand the existing academic literature and landscape surrounding rare diseases. Secondly, they immersed themselves in Mendelian’s work, gaining a comprehensive understanding of their research methodologies, algorithm development, and testing processes. Thirdly, they worked closely with Mendelian to define their aims and priorities for the publication.
Our senior advisor took the lead role in designing and managing the manuscript development and writing process, working in close collaboration with Mendelian’s data science team. This involved coordinating with external collaborators to gather feedback on the manuscript, iteratively revising the paper based on both internal and external feedback, and meeting an agreed publication timeline to prepare all of the necessary files for submission.
For patients, where the algorithms flag a suspected disease, MendelScan informs healthcare providers, enabling them to discuss how to best help the patient.
The latest collaboration between Health Innovation East and Mendelian has showcased the breadth and depth of Mendelian’s groundbreaking research. The paper has received formal approval from the Department of Health and Social Care, and has been submitted to an academic journal. Publication of this peer-reviewed paper is expected to yield significant impact.
– a public and patient involvement workshop
– an in depth survey and analysis of the public perception of the use of health data to help identify rare diseases.
– Developing a communications and engagement strategy.
Firstly, it will highlight Mendelian’s scientific credibility within the field, lending weight to future grant applications, enhancing Mendelian’s ability to secure funding for further research and development.
Secondly, the work holds considerable value for the broader rare disease research community. By demonstrating the potential of using routinely collected patient data to facilitate earlier diagnoses, this publication aims to inspire further exploration and innovation in this critical area.
Find out more about Mendelian by visiting their website.
Understand how Health Innovation East can support your academic, bid and corporate writing – contact deliveryoperations@healthinnovationeast.co.uk
Reference:
1 Nguengang Wakap, S., Lambert, D.M., Olry, A., Rodwell, C., Gueydan, C., Lanneau, V., Murphy, D., Le Cam, Y. and Rath, A., 2020. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. European journal of human genetics, 28(2), pp.165-173.
2 Graessner, H., Zurek, B., Hoischen, A. and Beltran, S., 2021. Solving the unsolved rare diseases in Europe. European Journal of Human Genetics, 29(9), pp.1319-1320.Rare Disease Impact Report: Insights from patients and the medical community [Internet]. Globalgenes.org. 2021: https://globalgenes.org/wp-content/uploads/2013/04/ShireReport-1.pdf.