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成人app  Consumer genetic tests could be giving false reassurance to those at heightened risk of cancers, according to findings presented at an international conference last week.

成人app  上周一次國際會議上公布的研究結果顯示,消費者基因測試可能會給那些癌癥風險更高的人帶來虛假的安慰。

  The study, by clinical genetic testing company Invitae, revealed that tests for breast and bowel cancer risk by direct-to-consumer companies such as 23andMe give negative results to the vast majority of those carrying DNA mutations in the genes under investigation.


  "These tests should not be taken at face value at all, whether they are positive or negative," said Edward Esplin from Invitae ahead of the annual meeting of the American Society of Human Genetics in Houston, Texas.


  "The data really underscores that there needs to be increased awareness that results from this type of screening may not be wrong but they're woefully incomplete."


  The research also showed that those from Asian and African-American backgrounds were more likely to carry mutations that were not designed to be detected by the consumer tests.


成人app  The research focused on DNA-based tests relating to breast, ovarian and bowel cancer that were recently approved by the US Food and Drug Administration.


  The tests operate by a subject sending a DNA swab in the post for analysis and then receiving results with information about how their genetics could influence their health.

成人app  測試是這樣進行的:受試者寄送DNA樣本用于分析,然后收到有關基因對健康影響的檢測結果。

  In the case of breast and ovarian cancer, the FDA has approved a screening test for three specific mutations on the BRCA1 and BRCA2 genes, which are most common in people of Ashkenazi Jewish heritage. However, these mutations are rare in people from other backgrounds.


  Similarly, for bowel cancer, 23andMe offers FDA-authorised tests for two mutations, which are most common among individuals of northern European ancestry. The company explains the limitations of these tests to consumers and on its website.

成人app  類似地,對于腸癌,23andMe公司提供FDA授權的兩種基因突變檢測,這在北歐血統的人中最為常見。該公司在其網站上向消費者解釋了這些測試的局限性。

成人app  Esplin said that despite this, consumers could be wrongly reassured by a negative result.


  The study analysed the DNA of 270,806 patients who had been referred by healthcare providers for testing of the MUTYH gene, and 119,328 who had been referred for BRCA1/2 genetic testing.

成人app  這項研究分析了270806名被醫療機構推薦進行MUTYH基因檢測患者的DNA,以及119328名被推薦進行BRCA1/2基因檢測患者的DNA。

  It showed that for both tests, the majority of those carrying mutations would not be spotted, which Invitae describes as a "clinical false-negative result".

成人app  結果顯示,在這兩種檢測中,大多數攜帶突變的人都沒有被發現,Invitae將其描述為“臨床假陰性結果”。

  For MUYTH, 40% of individuals with mutations in both copies of their MUTYH genes – consistent with an almost 100% lifetime risk of bowel cancer – had different mutations to those screened for in the FDA-approved test. This figure rose to 100% for those from Asian backgrounds and 75% for African-Americans.

成人app  對于MUYTH基因,在攜帶有兩種MUTYH基因拷貝突變的人中,有40%的人的突變與FDA授權檢測到的突變不同。這個數字在亞裔美國人中上升到100%,在非洲裔美國人中上升到75%。攜帶有這兩種基因突變的人一生中罹患腸癌的風險幾乎是100%。

成人app  For BRCA genes, 94% of non-Ashkenazi Jewish individuals and 19% of those of Ashkenazi heritage had a mutation that would be missed. Again, the figures were highest for those of Asian (98%) and African-American (99%) ancestry.


成人app  "A clinical false-negative result can be incorrectly reassuring, excluding a patient from receiving the preventive care they need based on their risk," he added. "It could be the difference between preventing cancer and developing cancer."


  In response to the findings, 23andMe said in a statement: "The claims made by a competitor that we are returning 'clinical false negatives' is incorrect and a false characterisation of 23andMe's test. Our test is extremely accurate. As part of the FDA authorisation process we've demonstrated over 99% accuracy for the variants we test for in our health product."

成人app  針對這些發現,23andMe在一份聲明中表示:“競爭對手聲稱我們正將‘臨床假陰性結果’退回是假消息,其對本公司測試的特征描述也是錯誤的。我們的測試非常準確。作為FDA授權檢測過程的一部分,我們已經證明,我們的健康產品基因變異測試準確性超過99%。”

成人app  The company said it makes clear to customers that it tests only for certain genetic variants and that customers should not forgo any recommended testing based on 23andMe results. "23andMe is not a diagnostic test," the company said. "If an individual has a family history of cancer or other indications for clinical testing we always recommend consulting a healthcare provider first."


成人app  Prof Anneke Lucassen, a clinical geneticist at the University of Southampton, said that, in her experience, non-specialists would be likely to wrongly interpret negative results as an "all-clear".

成人app  南安普頓大學臨床遺傳學家安妮克·盧卡森教授表示,根據她的經驗,非專業人士很可能會錯誤地將陰性結果解讀為“沒有風險”。

  "I do think the 'false-negative' rate is an issue, not necessarily through the companies' fault but through low general awareness," she said. "Most people who come to clinic ask: 'Have I got the gene for breast cancer?' and imagine it's a single test, not that the test involves looking through around 20,000 letters of the genetic code to see if any one of them might be different."


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