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历，这些国家参与了一项研究 (Latin SEQ)，该研究提供一种称为全外显子组测序 (WES) 的基因测试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患有与肌肉疾病症状无关的其他遗传状况或疾病风险（因为 WES​​ 不仅仅关注肌肉疾病基因）。该测试可能会诊断出患者及其医生未预料到且未做好准备的情况。 WES 还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。诊断可以帮助制定治疗或支持性护理，可以帮助家庭了解亲属患病的原因并回答他们可能长期以来提出的问题，可以为其他家庭成员提供遗传信息，以便他们可以用于治疗或治疗疾病。为他们未来的家庭提供医疗护理或产前选择。基因诊断也有一些缺点，有时患者可能会因为多种原因而难以接受基因诊断。一旦父母知道孩子遗传了他们的病症或疾病，他们可能会感到内疚。当可能有遗传病风险的家庭成员不想知道时，基因诊断可能会导致家庭不安。在某些文化中，人们可能会因为这些信息而感到耻辱。它有时会影响保险等财务安排和一些职业机会。这些问题是遗传咨询师在测试前通常会与患者讨论的问题。在 15 个洛杉矶国家中的许多国家中，没有提供遗传咨询服务，肌肉疾病服务的医疗保健专业人员会告知患者有关 WES 及其疾病可能的遗传因素和/或任何意外的发现。此外，在洛杉矶国家/地区，获得支持性护理服务的情况可能有所不同。即使发现基因诊断，一些定制疗法也可能无法使用。由于法律、宗教或文化限制，可能无法进行产前检测。在英国，虽然我们有遗传咨询服务，但 WES 也开始由非遗传学家的医生向患者提供。因此，我们可以学习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。这项研究的结果与参与中心分享后，还可以帮助支持拉丁美洲国家遗传服务的发展。该研究旨在评估患者、家属和 HCP 在以下方面的经历：1) 接受和给予基因诊断，2) WES 后患者护理如何以及是否发生变化 3) 产前检测机会和接受情况 4) 沟通基因诊断家庭内部信息 5) 接收和给出意想不到的发现 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，突出根据英国遗传衡量的良好实践领域咨询标准，与洛杉矶合作伙伴分享研究结果，以发展他们的遗传学服务并改善患者的治疗结果，与健康教育英格兰和基因组英格兰分享研究结果，为英国服务的发展提供信息。该项目将产生有关提供有效遗传咨询的新知识，以改善拉丁美洲和英国的患者治疗结果。