Evaluating the delivery of whole exome sequencing for patients with muscle diseases in Latin America. Learning from collaborative experiences-Lat SEQ+

评估对拉丁美洲肌肉疾病患者进行全外显子组测序的情况。

• 批准号: MR/X030911/1
• 负责人: Lorraine Cowley
• 金额: $ 29.76万
• 依托单位: Newcastle University
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2024
• 资助国家: 英国
• 起止时间: 2024 至 无数据
• 项目状态: 未结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FX030911%2F1
• 关键词: Evaluating; delivery; whole; exome; sequencing

This project is trying to find out about the experiences of patients and healthcare professionals in 15 Latin American countries who are part of a study (Latin SEQ) that is offering a type of genetic testing called whole exome sequencing (WES) to diagnose inherited muscle diseases. This type of test can also identify if a patient has other genetic conditions or risks of disease that have nothing to do with their muscle disease symptoms (because WES does not just look at muscle disease genes). The test may diagnose conditions that patients and their doctors do not expect and they are not prepared for. WES can also come up with uncertain answers that are difficult to interpret.There are many potential benefits of having a genetic diagnosis for muscle diseases. A diagnosis can help to tailor treatment or supportive care, it can help families to understand why their relative has a disease and answer questions that they may have asked for a long time, it can give other family members genetic information that they might use for their medical care or prenatal options for their future family. There are also some downsides and sometimes patients' can struggle to come to terms with a genetic diagnosis for many reasons. Parents may feel guilty once they know their child has inherited a condition or disease from them. A genetic diagnosis can cause family upset when family members, who may be at risk of the genetic condition, do not want to know. In some cultures, people may feel stigmatised by the information. It can sometimes affect financial arrangements like insurances and some career opportunities. These are issues, which a genetic counsellor would usually discuss with patients before testing.In many of the 15 LA countries, there is no genetic counselling available and healthcare professionals in the muscle disease service will inform patients about WES and the possible genetics of their disease and/or any unexpected findings. In addition, in LA countries access to supportive care services may vary. Some tailored therapies may not be available even when a genetic diagnosis is found. Prenatal testing may not be available because of legal, religious or cultural restrictions. In the UK, although we have genetic counselling, WES is also beginning to be offered to patients by doctors who are not geneticists. We can therefore learn from the experiences of healthcare professionals and patients in Latin America who do not have genetic counselling services. The findings of this study, when shared with the participating centres, can also help to support the development of genetic services in the Latin American countries. The study aims to evaluate patients', families' and HCP's experiences of:1) Receiving and giving a genetic diagnosis, 2) How and if there are changes to patient care following WES 3)Pre-natal testing opportunities and uptake 4) Communicating genetic information within families 5) Receiving and giving unexpected findings 6) Dealing with variants of uncertain significance 7)Cultural contexts.The study objectives are to develop educational input and resources, highlight areas of good practice as measured against UK genetic counselling standards, share findings with LA partners to grow their genetics services and improve patient outcomes, share findings with Health Education England and Genome England to inform UK service development. The project will generate new knowledge about delivering effective genetic counselling to improve patient outcomes in Latin America and in the UK.

该项目试图了解15个拉丁美洲国家的患者和医疗保健专业人员的经验，他们是一项研究（拉丁语SEQ）的一部分，该研究提供了一种称为全外显子组测序（WES）的基因检测来诊断遗传性肌肉疾病。这种类型的测试还可以确定患者是否有其他与肌肉疾病症状无关的遗传疾病或疾病风险（因为WES不只是看肌肉疾病基因）。该测试可以诊断患者和他们的医生没有预料到的情况，他们没有准备。WES也可以得出难以解释的不确定答案。对肌肉疾病进行基因诊断有许多潜在的好处。诊断可以帮助量身定制治疗或支持性护理，它可以帮助家庭了解为什么他们的亲属患有疾病，并回答他们可能已经问了很长一段时间的问题，它可以给其他家庭成员遗传信息，他们可能会使用他们的医疗保健或产前选择他们未来的家庭。也有一些缺点，有时患者可能会因为许多原因而难以接受基因诊断。父母可能会感到内疚，一旦他们知道他们的孩子从他们那里继承了一种疾病或疾病。当可能有遗传疾病风险的家庭成员不想知道时，遗传诊断可能会引起家庭不安。在某些文化中，人们可能会对这些信息感到耻辱。它有时会影响财务安排，如保险和一些职业机会。在15个LA国家中的许多国家，没有提供遗传咨询，肌肉疾病服务的医疗保健专业人员将告知患者WES和他们疾病的可能遗传学和/或任何意外发现。此外，在洛杉矶国家，获得支持性护理服务的机会可能会有所不同。有些定制的治疗方法可能无法使用，即使发现了基因诊断。产前检测可能无法使用，因为法律的，宗教或文化的限制。在英国，虽然我们有遗传咨询，但非遗传学家的医生也开始向患者提供WES。因此，我们可以从拉丁美洲没有遗传咨询服务的医疗保健专业人员和患者的经验中学习。这项研究的结果与参与中心分享后，也有助于支持拉丁美洲国家遗传服务的发展。本研究旨在评价患者、家属和HCP的以下经历：1）接受和提供基因诊断，2）WES后患者护理如何以及是否发生变化3）产前检测机会和摄取4）家庭内遗传信息的交流5）接受和提供意外发现6）处理不确定意义的变异7）文化背景。研究目标是开发教育投入和资源，突出根据英国遗传咨询标准衡量的良好实践领域，与洛杉矶合作伙伴分享发现，以发展他们的遗传服务并改善患者结果，与英格兰健康教育和英格兰基因组组织分享研究结果，为英国的服务发展提供信息。该项目将产生关于提供有效遗传咨询的新知识，以改善拉丁美洲和英国患者的预后。