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

就个人而言，罕见疾病影响的人数很少。总体而言，每17人中就有1人受到影响，是公共卫生的优先事项。从本质上讲，相当一部分罕见疾病很难诊断。随着时间的推移，非特异性症状可能会缓慢出现，因为这些疾病会影响多个器官系统，导致反复误诊。平均诊断时间超过5年，在这段时间内，阳性结果的可能性经常下降。孟德尔连的目标是缩短罕见疾病患者忍受的漫长的“诊断奥德赛”。通过帮助更快地识别罕见疾病，孟德林还通过在正确的时间向正确的临床医生提供正确的信息，为显著降低NHS的成本和减少罕见疾病诊断中的健康不平等做出了贡献。过去5年来，该公司一直在罕见疾病领域工作，一直是在罕见疾病诊断中使用数字健康和数据的强烈倡导者。孟德利安拥有一支由临床医生、计算机科学家和患者权益倡导高管组成的强大团队，他们都热衷于为最需要的患者提供更快的答案。孟德利安的技术能够在更短的时间内诊断患者，从而对患者的日常生活产生积极影响。通过早期发现一种罕见的疾病，它可以让患者结束旷日持久的诊断旅程，拥有更好的生活质量，能够适应他们的疾病并在需要的地方开始治疗。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做法，以确保数据集成、访问和处理是安全的。该项目将允许该公司开发可扩展的方法，以安全地扩大其在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.