The new at-home DNA test examines only 3 of more than 1,000 BRCA gene mutations, so it’s applicable to only a small portion of the population.

Do your genes put you at heightened risk of developing cancer?

新的家庭测试可以帮助您了解更多关于您的遗传危险因素的更多信息,尽管它可能不会与您思考的帮助。

Last week, the U.S. Food and Drug Administration (FDA) authorized the company 23andMe to market the first direct-to-consumer test that reports on three specific genetic variants in the BRCA1 and BRCA2 genes.

People with these genetic variants are significantly more likely than average to develop breast, ovarian, and prostate cancer.

“对于我们将报告的变种,风险最高的妇女有45%至85%的机会在70岁以上发育乳腺癌的几率,以及发展卵巢癌的10%至46%的机会,”一位23个发言人告诉健康线雷竞技app官网。

“Men with the highest risk result have an increased chance of developing male breast cancer and prostate cancer,” the spokesperson added.

该测试仅检测超过1,000个已知的BRCA突变中的3个。

同样,它不考虑癌症的许多其他遗传和环境危险因素。

换句话说,您可以接受该测试的负面结果,仍然具有增加癌症机会的BRCA突变或其他风险因素。

“It’s important to note a negative result — i.e., ‘no variants detected’ — does not significantly reduce one’s cancer risk because other genetic and nongenetic factors not tested here still play a large role in overall risk for these cancers,” the 23andMe spokesperson said.

“However, a positive result is very informative,” they continued, “and may significantly increase one’s genetic risk for certain cancers, especially breast and ovarian cancer.”

23andme试验检测到的特定遗传变体最常见的是Ashkenazi犹太人血统的人群。

Members of this population are at particularly high risk of carrying BRCA mutations.

“犹太人的40人中约有1个犹太人祖先有一种有害的BRCA突变,与一般人口中的400人中有约1人,”23号发言人指出。

“The three variants we are testing account for over 90 percent of BRCA-related cancer found in the Ashkenazi Jewish population,” they said.

For members of the population who lack Jewish ancestry, this test may be less useful.

“Essentially what they’re doing is, they’re taking a test for the BRCA gene that’s really applicable to the Jewish population, and they’re marketing it to everyone,” Mary Freivogel, MS, past president of the National Society of Genetic Counselors (NSGC), told Healthline.

“所以他们正在营销一个针对每个人的人口的[一个非常小部分]的测试,这意味着对于[绝大多数]接受这次测试的人,BRCA结果对他们来说没有任何意义,但他们might think that they mean something, so it’s very dangerous,” she added.

Freivogel表明,检测其他类型的BRCA突变的更全面的遗传测试更适合许多患者,包括没有犹太血统的患者。

“这就是遗传辅导员是如此重要的原因this process because we really need to help patients choose the right test for them depending on their family history, their ethnicity, and all those things,” she said.

In response to Freivogel’s comments, Kathy Hibbs, chief legal and regulatory officer of 23andMe, pointed to the FDA’s authorization of the test as evidence of its viability.

“在获得授权时,我们向FDA展示了我们的产品是向客户提供有关这三种BRCA突变的信息的安全有效的方法,”她说。

“最近的数据表明,遗传咨询不普遍可用,要求它作为访问信息的大门可能会加剧当前协议错过的运营商的数量,”她添加了,引用了一个最近的编辑in the Journal of Clinical Oncology.

Hibbs suggested that 23andMe’s new BRCA test “can provide a significant benefit” to people who do carry one of the variants that it detects.

Some of those people might have Jewish ancestry without knowing it.

23andMe will incorporate the new BRCA test into its existing Health + Ancestry Service, rather than selling it as a standalone product.

This service provides information about users’ ancestry and genetic risk factors for certain health conditions.

它目前报道与乳糜泻,帕金森病,晚期阿尔茨海默病的遗传变异有关,以及其他几种情况。

购买此服务后,要求用户将其唾液样本邮寄给实验室。

When the sample has been tested, their results are made available to them online.

This direct-to-consumer approach to genetic testing allows customers to access information about their genes without the assistance of a genetic counselor or other healthcare provider.

For some people, direct-to-consumer genetic testing may provide a more accessible alternative to genetic tests ordered by a healthcare professional.

“它更容易进入,更实惠,而且他们不必留下自己家的舒适,”Freivel说。

On the other hand, people who opt for direct-to-consumer testing might miss out on important information and support that a trained healthcare professional could provide.

Compared to a report from a direct-to-consumer service, a genetic counselor can offer more customized guidance to help people choose the right test and interpret and act on its results.

“遗传学真的只是难题的一片。即使你有BRCA突变,它也不保证你会得到癌症,显然如果你没有BRCA突变,你仍然可以得到癌症,“Freivelel说。

“So it’s very important how we position the results to patients, whether positive or negative, so patients are acting on them in the way they should to produce the best clinical outcomes that we can,” she added.

如果他们测试BRCA突变或其他有害遗传变异的阳性,遗传辅导员还可以帮助人们为他们可能面临的困难谈话做好准备。

“Are these consumers ready to share this information with their family? Do they know how to do that?” Freivogel asked. “That’s something they need to think about before they get testing [done].”

If you have Jewish ancestry or a family history of breast, ovarian, tubal, or peritoneal cancer, consider asking your healthcare provider if you should be tested for BRCA mutations.

Depending on your family history, your healthcare provider might recommend that you undergo genetic testing or schedule a consultation with a genetic counselor.

If you’re interested in scheduling an in-person or telemedicine appointment with a genetic counselor, you can find one in your area by using数据库在NSGC网站上提供。