结果显示,在这两种检测中,大多数携带突变的人都没有被发现,Invitae将其描述为“临床假阴性结果”。
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.
对于MUYTH基因,在携带有两种MUTYH基因拷贝突变的人中,有40%的人的突变与FDA授权检测到的突变不同。这个数字在亚裔美国人中上升到100%,在非洲裔美国人中上升到75%。携带有这两种基因突变的人一生中罹患肠癌的风险几乎是100%。
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.
对于BRCA基因,94%的非德系犹太人和19%的德系犹太人携带有可能被遗漏的基因突变。同样,亚裔(98%)和非裔(99%)的比例最高。
“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.”
他补充说:“临床假阴性的结果可能是误导性的安慰,使人们不再接受需要基于风险而进行的预防性治疗。人们可能会患上原本可以预防的癌症。”
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