解码生命 守护健康

第一次!FDA批准居家乳腺癌基因突变检测

2018-03-13 23:06:10医疗旅游

FDA已批准用于乳腺癌遗传倾向性的检测,使用DNA测试公司——23andMe的测试产品可以在家中操作。

                                                                                            全球视野  本土思考


        FDA已批准用于乳腺癌遗传倾向性的检测,使用DNA测试公司——23andMe的测试产品可以在家中操作。


        在加利福尼亚州芒廷维尤的23andMe公司实验室,技术人员正在处理成千上万的唾液样本——这些都是来自那些在家使用试剂盒,想得到有关他们家族或健康遗传信息的人。

 

        该公司长期以来提供了解更多家族信息的DNA测试。现在,FDA首次允许该公司开始检测与乳腺癌风险相关的特定基因突变。

 

        23andme的测试只筛选三个可能的乳腺癌基因突变,大多是发生在一个很小比例的人群众。


 

        它们主要适用于德系犹太血统的人, 所以这是测试的一个重要局限。斯坦福大学医学伦理学教授David Magnus担心会迷惑使用者。

 

        “人们会误解而认为没有患病,因为她们的测试呈阴性,更确切地说,她们经过公司的测试,与乳腺癌相关的三个BRCA基因中的任何一个都不呈阳性,这意味着她们的健康状况良好。”

 

        Magnus说:他担心有人可能还有成千上万的基因突变,而这些基因突变并不为被带回家的试剂盒所覆盖。“对于一些可能接受测试的人来说,要真正理解和领会这些结果可能更困难。”

 

        但是该公司代表说这款产品已经通过FDA认证。

 

        该公司在一份声明中说:“23andme已经表明,人们可以直接接收了解这些信息,而不必通过医疗提供者接收”。

 

        在一份声明中,FDA相关办公室主任Donald St. Pierre指出“这个测试不应该用来代替医生癌症筛检或遗传和生活方式因素咨询。”

 

        检测套装将于未来几周内上线23andme网站。费用是199美元。

 

        BRCA测试是测试遗传和整体健康信息的整体基因盒的一部分。得到BRCA检测结果,你必须选择它;它不是自动的。需要6到8周出结果。


In a first, FDA approves test for breast cancer gene mutations


The FDA has approved a test for genetic predisposition to breast cancer that can be taken at home from the popular DNA testing company 23AndMe. Inside the labs at 23AndMe in Mountain View, California, technicians are processing thousands of saliva samples, all of them from people who used the take home kit to get genetic information about their ancestry or health.

 

"The test that we offer is a great way for those people to get access to the information directly without having to get a prescription," Emily Drabant Conley, Ph.D, VP of Business Development at 23andMe, told CBS San Francisco.

 

The company has long offered DNA testing to learn more about ancestry. Now, for the first time the FDA is allowing the company to start testing for specific genetic mutations linked to breast cancer risk.

 

The 23AndMe test will only screen for three possible breast cancer mutations that are mostly seen in a very small percentage of the population.

 

"They are applicable primarily to people of Ashkenazi Jewish ancestry, so that's an important limitation of the test," Drabant Conley said.

 

That's something Stanford University medical ethics professor David Magnus worries will confuse users.

 

"People will misunderstand and believe that because they test negatively, that is, they don't test positive for any of the three BRCA [breast cancer-related] genes that are being tested by the company, that that means they have a clean bill of health," he said.

 

He said he worries someone could still have another one of the thousands of gene mutations that aren't covered by the take-home kit.

 

"For some people who might be getting this test, it might be harder to really interpret and understand those results," Magnus said.

 

But company representatives say it's something they've worked through with the FDA.

 

"23andMe has had to show that people could understand this information receiving it directly rather than receiving it through a health care provider," the company said in a statement.

 

In a statement, Donald St. Pierre, acting director of the Office of In Vitro Diagnostics and Radiological Health in the FDA's Center for Devices and Radiological Health, states that "the test should not be used as a substitute for seeing your doctor for cancer screenings or counseling on genetic and lifestyle factors that can increase or decrease cancer risk."

 

The testing kit will be available in the next couple of weeks on the 23andMe website. The cost is $199.

 

The BRCA test is part of a whole genetic kit that tests your heritage and overall health info. To get the BRCA results, you have to opt in; it is not automatic. The results take 6 to 8 weeks.