Development of a non-invasive molecular diagnosis tool for skin-cancer detection

皮肤癌是英国最常见的癌症。皮肤科服务比任何其他专业都更容易收到疑似癌症的紧急转诊。每年有100万人被转介到皮肤科专家那里，其中只有6%被诊断出患有皮肤癌。人们认识到，很大比例的患者被视为与非相关的皮肤病变。这导致过度、不必要和昂贵的转诊给已经超负荷的NHS专家。COVID-19大流行后，许多患者需要远程评估，等待时间增加了2周以上。因此，英国皮肤科医生协会呼吁使用新技术和远程会诊来减少不必要的住院治疗。分子诊断可以彻底帮助解决这个问题。使用家庭皮肤采样检测试剂盒，然后对皮肤病变进行分子诊断，可以减少皮肤科医生的转诊，并实现远程皮肤科实践。2020年，NHS开始试点Grail的血液检测，可检测50种癌症。在2021年，NHS跟踪阴道拭子家庭检测试剂盒，以改善宫颈癌筛查。这两种检测都使用表观遗传生物标记来检测癌症的早期迹象。表观遗传修饰是DNA上影响基因表达的化学标记。它们具有组织特异性，并受环境影响。这些是早期癌症检测的最佳生物标志物，然而迄今为止，皮肤表观遗传分析需要侵入性皮肤活检。MitraBio发明了一种非侵入性皮肤取样方法（SkinPatch）来检测表观遗传谱。MitraBio已经验证了SkinPatch，与活组织检查相比，DNA甲基化数据的相关性>97%。对400例健康人进行了生殖功能测定。这导致了2021年7月提交的专利。在该项目中，MitraBio正在评估MitraBio SkinPatch用于皮肤癌分层的临床用途。这包括一项非干预性观察性研究，旨在建立分层工具，并在盖伊医院常规转诊进行皮肤活检的患者中进行验证。MitraBio将在活检和组织病理学分析之前收集非侵入性样本，不干预患者的拟议治疗。表观遗传生物标志物有可能预测随访患者的癌前疾病进展，从而为临床医生提供额外的有价值的信息。对于患者来说，MitraBio的解决方案通过避免不必要的手术和压力为患者带来便利。

Skin cancer is the most commonly diagnosed cancer in the UK. Dermatology services receive more urgent referrals for suspected cancer than any other specialty. There are 1M referrals every year to dermatology specialists and only 6% of them are diagnosed with skin cancer. It is recognised that a significant proportion of patients are seen with non-relevant skin lesions. This creates excessive, unnecessary, and costly referrals to NHS specialists who are already overloaded.Post COVID-19 pandemic, many patients were assessed remotely, and the waiting times increased over 2-weeks. Therefore, the British Association of Dermatologists called for the use of new technology and remote consultations to reduce the need for unnecessary hospital attendances.Molecular diagnostics can drastically help with this problem. The use of at-home skin sampling testing kits followed by molecular diagnosis of skin lesions can reduce dermatologist referrals and enable tele-dermatology practices.In 2020, NHS begun to pilot Grail's blood test that detects 50 types of cancers. In 2021, NHS trails vaginal-swab home-testing kits to improve cervical-cancer screening. Both tests use epigenetic biomarkers to detect early signs of cancer.Epigenetic modifications are chemical marks on the DNA that affect gene expression. They are tissue specific and influenced by the environment. These are the best biomarkers for early cancer detection, however to date, invasive skin biopsies are needed for skin epigenetic analysis.MitraBio has invented a non-invasive skin sampling method (SkinPatch) to detect epigenetic profiles. MitraBio already validated the SkinPatch, showing \>97% corelation in DNA-methylation data compared to biopsies. Reproducibility was measured in \>400 healthy subjects. This resulted in a patent filed July 2021\.During this project, MitraBio is evaluating the clinical use of MitraBio SkinPatch for skin cancer stratification. This includes is a non-interventional observational study aiming to build the stratification tool and validate it in patients who are routinely referred for skin biopsy at Guy's Hospital. MitraBio will collect non-invasive samples before biopsy and histopathology analysis, not intervening in the patient's proposed care.Epigenetic biomarkers have the possibility of predicting precancerous disease progression in patients under follow-up, thereby providing additional valuable information to clinicians. For the patients, MitraBio's solution leads to patient's convenience by avoiding unnecessary surgery and stress.