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

该项目试图了解拉丁美洲15个国家的患者和医疗保健专业人员的经历，他们是一项研究(拉丁语SEQ)的一部分，该研究提供一种名为完整外显子测序(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有其他与肌肉疾病症状无关的遗传条件或疾病风险(因为WES不仅仅是研究肌肉疾病基因)。这项测试可能会诊断出患者和他们的医生没有预料到、也没有准备好的情况。WES还可以得出难以解释的不确定答案。肌肉疾病的基因诊断有许多潜在的好处。诊断可以帮助定制治疗或支持性护理，它可以帮助家庭了解他们的亲属为什么会有疾病，并回答他们可能问了很长时间的问题，它可以为其他家庭成员提供他们可能用于医疗保健或为未来家庭提供产前选择的遗传信息。这也有一些不利之处，有时患者可能会因为许多原因而难以接受基因诊断。一旦父母知道他们的孩子从他们那里遗传了某种疾病或疾病，他们可能会感到内疚。当可能有遗传疾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。在一些文化中，人们可能会因为这些信息而感到耻辱。它有时会影响财务安排，如保险和一些职业机会。这些都是遗传咨询师通常会在检测前与患者讨论的问题。在洛杉矶15个国家中的许多国家，没有可用的遗传咨询，肌肉疾病服务的医疗专业人员会告知患者WES和他们疾病的可能遗传学和/或任何意想不到的发现。此外，在洛杉矶国家，获得支持性护理服务的机会可能有所不同。即使发现了基因诊断，一些量身定制的疗法也可能无法使用。由于法律、宗教或文化方面的限制，可能无法进行产前检查。在英国，虽然我们有遗传咨询，但WES也开始由非遗传学家的医生为患者提供。因此，我们可以借鉴拉丁美洲没有遗传咨询服务的保健专业人员和患者的经验。这项研究的结果在与参与中心分享时，也有助于支持拉丁美洲国家遗传服务的发展。这项研究旨在评估患者、家庭和HCP在以下方面的经验：1)接受和给予基因诊断，2)在WES之后患者护理如何以及是否发生变化3)产前检测机会和吸收4)在家庭内交流遗传信息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。研究目的是发展教育投入和资源，突出与英国遗传咨询标准衡量的良好做法的领域，与LA合作伙伴分享结果，以发展他们的遗传学服务和改善患者结果，与英格兰健康教育和基因组英国分享结果，为英国服务发展提供信息。该项目将在拉丁美洲和英国产生关于提供有效遗传咨询以改善患者结局的新知识。

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.