EHR integration for the Mendelian Scanning Platform, for seamless referrals to rare disease diagnosis specialists

就个体而言，罕见疾病只影响一小部分人。总的来说，每17人中就有1人受到影响，是公共卫生重点问题。很大一部分罕见病就其性质而言是难以诊断的。随着时间的推移，非特异性症状可能缓慢出现，因为疾病影响多个器官系统，导致反复误诊。平均诊断时间超过5年，在此期间，积极结果的可能性经常下降。孟德尔的目标是缩短罕见疾病患者漫长的“诊断奥德赛”。通过帮助更快地识别罕见疾病，Mendelian还通过在正确的时间向正确的临床医生提供正确的信息，为NHS大幅降低成本和减少罕见疾病诊断中的健康不平等做出了贡献。在过去的5年里，该公司一直致力于罕见病领域的研究，并一直大力倡导在罕见病诊断中使用数字健康和数据。孟德尔拥有一支由临床医生、计算机科学家和患者维权主管组成的强大团队，他们都热衷于为最需要的患者提供更快的答案。孟德尔的技术能够让医生在更短的时间内诊断出病人，从而对病人的日常生活产生积极的影响。通过对罕见疾病的早期发现，它可以让患者结束漫长的诊断过程，并拥有更好的生活质量，能够适应他们的疾病并在需要时开始治疗。同时，保护患者的隐私和保密也很重要。Mendelian在技术架构和模式方面采用最佳实践，以确保数据集成、访问和处理是安全的。该项目将允许公司开发可扩展的方式，以安全地增长其在NHS的足迹。

Individually, rare diseases impact small numbers of people. Collectively, they impact 1 in 17 people and are a public health priority. A significant portion of rare diseases are, by their nature, difficult to diagnose. Non-specific symptoms may present slowly over time as the diseases impact multiple organ systems leading to repeated mis-diagnoses. Average time to diagnosis exceeds 5 years and the likelihood of positive outcomes frequently declines over this time.Mendelian's goal is to shorten the long 'diagnostic odyssey' rare disease patients endure. By helping to identify rare diseases faster, Mendelian is also contributing to significant costs reduction in the NHS and reducing health inequity in rare disease diagnosis, by providing the right information to the right clinician at the right time.The Company has been working in the field of rare diseases for the last 5 years and has been a strong advocate for the use of digital health and data in Rare Disease diagnosis. Mendelian has a strong team of clinicians, computer scientists and patient advocacy executives who are all passionate about providing answers faster to patients who need it the most.Mendelian's technology has the ability to positively impact the daily lives of patients, by allowing doctors to diagnose patients in a shorter time frame. With an early detection of a rare disease, it allows patients to put an end to prolonged diagnostic odyssey and have a much better quality of life, being able to adapt to their disease and begin treatment where required.At the same time, it is important to protect patient privacy and confidentiality. Mendelian employs best practices with regards to technical architecture and patterns to ensure data integration, access and processing is secure. This project will allow the Company to develop scalable ways to safely grow its footprint in the NHS.