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遗传和基因组检测

基因检测(有时称为基因组检测)发现可能导致健康问题的基因变化。它主要用于诊断稀有和遗传的健康状况和一些癌症。

为什么要为我提供基因检测?

您可能会获得基因检验,因为:

  • 您的医生认为您可能患有更改为1个或更多基因的健康状况
  • 您家庭中的某人的健康状况是由基因变化引起的
  • some of your close relatives have had a particular type of cancer that could be inherited
  • 您或您的伴侣的健康状况可以传给您的孩子

如果您有任何疑问,请与您的医生谈论进行基因检测。

遗传测试可以告诉我什么

基因检测可以:

  • 帮助诊断儿童罕见的健康状况
  • 帮助您了解继承的健康状况是否会影响您,您的孩子或其他家庭成员,并帮助您决定是否生孩子
  • 表明您是否患有某些健康状况的风险更高,包括某些类型的癌症
  • 指导医生决定给您什么药物或治疗
  • guide doctors on whether you're able to join a clinical trial
Information:

NHS正在引入整个基因组测序NHS基因组医学服务

Whole genome sequencing looks at all your genetic material at the same time (not just part of it, as with other types of genetic test).

Who can have a genetic test on the NHS?

您需要由医生转介基因测试。

与您的医院专家谈谈测试是否适合您。

Is genetic testing free on the NHS?

如果医院专家将您转介给您,则NHS的基因测试是免费的。

You will generally only be referred if you have a suspected genetic health condition or if you have a particular type of cancer.

遗传咨询

如果您提供了遗传测试,则可能会转介给遗传辅导员,以帮助您通过测试对您和您的家人意味着什么。

遗传辅导员可以帮助您理解:

  • 您进行基因测试的风险和利益
  • 您的测试的潜在结果及其含义
  • 如果测试显示您的家人的健康状况严重,您的家人可能会受到影响
  • 您和您的伴侣将健康状况传递给孩子的风险
  • your options if you have a child with an inherited health condition and you do not want your next child to inherit it

遗传辅导员还可以将您引导到相关的患者支持小组。

The British Society for Genetic Medicinehas a list of organisations that offer information and support.

The charity Genetic Alliance UK has有关在进行基因测试之前要考虑的问题的更多信息

如果您决定不进行基因测试,您仍然会得到医疗保健专业人员的护理和支持。18luck备用网站真人官网

对您家人的影响

您可能需要考虑基因测试的结果如何影响您和家人中的其他人。

If the genetic test shows there are changes to your genes that causes a health condition, this may mean that other members of your family also have it. In this situation, your doctor may recommend that other members of your family also have a genetic test.

该测试也有可能为您提供有关您或他们以前可能不知道的亲戚的信息。例如,这可能表明您被收养了,或者您的亲生父亲不是您认为的人。

这是因为测试可以表明您不与家人共享基因。

Find out more information from Genetic Alliance UK about基因检测的风险和好处

有基因检测

通常使用您的血液或唾液样本进行遗传测试。

如果您因患有癌症而被转诊为基因测试,则该测试将对已经被切除的肿瘤样本进行,该样品已被切除为治疗的一部分。

The sample of blood, saliva or body tissue is sent to a基因测试实验室要分析。

获得结果

You’ll be told when to expect the results of your test. Depending on the reason for your test, it could be weeks or months. You may need further tests.

测试的结果可能显示:

  • you have a change in your genes which is known to cause a health condition
  • 您的基因没有变化,这众所周知会导致健康状况
  • it's not clear what the results mean for your health (but doctors may have a better understanding of the results in the future)

After you get your results, you may be referred to a genetic counsellor to help you understand what they mean for you and your family.

会影响我的保险吗?

在申请某些类型的保险单时,保险公司可能会要求您提供有关您和您的家人的医疗信息。

You will have to disclose a health condition that has been diagnosed by genetic testing, but you will not usually have to disclose the results of predictive genetic testing – that is testing to show if you’re more likely than other people to get a certain health condition in the future.

您需要与保险公司共享的信息受到称为“Code on Genetic Testing and Insurance

The NHS will not give your genetic test results to an insurance company without your consent.

How your data will be used

您的遗传数据包括您的样本(血液,组织或唾液),有关您的健康状况和测试结果的临床信息。

This data may be used in:

  • 您的个人护理
  • 计划改善您和其他人获得的健康服务
  • 研究

来自基因检测的数据在本地存储。来自整个基因组测序的数据存储在安全的国家数据库中。在必要时,可以删除可以识别您的信息,例如您的姓名和地址。您的数据只能由批准的员工访问。

如果您对NHS进行了基因检测(包括整个基因组测序),则不可能阻止您的数据存储和共享。如果你已经从您的健康记录中选择了数据, this does not apply to your genetic test data.

了解更多有关what data about you has been stored and how it is used

NHS负责您的遗传数据。了解有关NHS责任的更多信息

了解有关NHS如何管理您的数据的更多信息NHS England Privacy Notice

Page last reviewed: 03 September 2019
Next review due: 03 September 2022