技术的进步使得能够检测出更多的基因突变，这对于多年前首次接受筛查的一代女性来说，可能是救命的信息。
Advances in technology detect far more genetic mutations, which can be lifesaving information for a generation of women first screened years ago.
然而，在2025年秋天，也就是近三十年后，医生在詹姆斯接受子宫切除手术时发现了她患有III期卵巢癌。她再次接受了检测，结果显示，1996年首次考虑的同一基因变异再次呈阳性。她感到震惊。在这些年里，从未有人建议她进行复测。
Yet in fall 2025, nearly three decades later, doctors discovered Stage 3 ovarian cancer while James was in surgery for a hysterectomy. She got tested again, and this time, the same gene variation considered in 1996 came back positive. She was shocked. Retesting had never been suggested in the intervening years.
“脑海中浮现的念头是，我想让我的孩子也接受检测，”她最近通过泪水回忆道。“我祈祷他们会是阴性，而结果确实如此。”随着基因检测变得日益复杂，如今能够检测出数十种基因，詹姆斯正是当年该领域尚处于起步阶段首次接受检测的女性之一，如今她也被敦促再次进行检测。但肿瘤科医生和妇科医生担心，这一信息尚未广泛传播。他们担心，如果一代女性不知道自己能从这些进步中获益多少，将会带来什么后果。
“The thing that came to my mind was I wanted my children tested,” she recounted recently through tears. “And I prayed that they would be negative, and they were.”As genetic testing has become ever more sophisticated, capable today of detecting several dozen genes, James is among the women first tested when the field was in its infancy who are now being urged to do so again. But oncologists and gynecologists are concerned that the word is not out. They’re worried about the consequences if a generation of women doesn’t know how much they could benefit from the advances that have been made.
该过程通过少量血液或唾液样本分析DNA，以检测可能增加一个人患多种疾病或状况风险的基因变异。当存在表明更高风险的因素时，例如家族中有癌症病史，就会推荐进行此类筛查。
The process uses a small sample of blood or saliva to analyze DNA for variations in genes that can put someone at higher risk for a plethora of diseases or conditions. This screening is recommended when factors indicate a higher risk, such as a family history of cancer.
乳腺癌突变的筛查始于1996年，当时开发了专注于BRCA1和BRCA2基因的检测方法。
Screening for breast cancer mutations began in 1996 with the development of tests focused on the BRCA1 and BRCA2 genes.
“对于某人来说，重新检测是非常值得的，因为如果你只检测了BRCA1和BRCA2，你只了解了部分情况，”普莱森特强调。“你没有完整的画面，也没有对这个人可能面临的风险有全面的理解。”总部位于盐湖城的Myriad Genetics公司率先开展了BRCA1基因突变的初步检测——詹姆斯最终对此呈阳性——以及BRCA2基因的检测。
“It’s very worthwhile for someone to get retested because if you’ve only been tested for BRCA1 and 2, you only have part of the story,” Pleasant stressed. “You don’t have the full picture and you don’t have a comprehensive understanding of what this person’s risk may be.”Myriad Genetics, a Salt Lake City-based company, pioneered the initial tests for mutations of BRCA1 — for which James ultimately was positive — and BRCA2.
但2013年最高法院推翻了Myriad的专利，裁定基因组DNA不能申请专利后，“多基因面板检测的革命开始了，”Merajver说。其他公司开始提供针对与高于平均水平的乳腺癌和妇科癌症风险相关的额外基因的检测。
But after the Supreme Court overturned Myriad’s patent in 2013, ruling that genomic DNA could not be patented, “the revolution of panel testing began,” Merajver said. Other companies began offering testing for additional genes linked to a higher-than-average risk of breast and gynecologic cancers.
他担心太少医生向患者解释这一点。但他补充道，一旦知情，考虑到该领域发展迅速，这些患者应该每隔几年就向他们的医疗服务提供者提出这个问题。
He is concerned too few doctors are explaining this to their patients. But once informed, he added, those patients should raise the issue with their providers every few years given how much the field is evolving.
“等[患者]来找我的时候，谈预防已经太晚了，”Yadav说。
“By the time [patients] come to me, it’s too late to talk about prevention,” Yadav said.
同一项研究确定了复检的障碍。一是费用，因为健康保险不一定总能覆盖。后勤因素也起作用：认为自己没事的女性不会定期看肿瘤科医生。
That same study identified barriers to retesting. One is cost, because health insurance may not always cover it. Logistics also play a role: Women who think they are in the clear don’t regularly see an oncologist.
“我当时很震惊，”她说。“我甚至没想到他们在给我做BRCA检测。”国家癌症研究所的Frone指出，针对这么多变异进行复检的一个问题是，关于某些变异是否会让人面临更大风险的信息有限——这意味着个人必须能接受这种不确定性。
“I was shocked,” she said. “I didn’t even think that they were testing me for BRCA.”An issue with retesting for so many variants is the limited information on whether some put a person at greater risk — meaning individuals have to be comfortable with that uncertainty, noted Frone of the National Cancer Institute.
但Merajver说，拥有这些数据仍有价值，因为随着时间的推移，科学家将更多地了解哪些基因突变是良性的，哪些与疾病相关。
But Merajver said there’s still value in having such data, since over time scientists will know more about which genetic mutations are benign and which are associated with disease.
在加利福尼亚州Lake Forest的家中，James很高兴自己再次接受了检测，即使结果不是她想要的。她的癌症现在处于缓解期。
At her home in Lake Forest, California, James is glad she was tested again, even if the results were not what she wanted. Her cancer is now in remission.
如今她是复检的坚定倡导者。“不要害怕它，”她说。“抢在它前面，因为知识将带来改变。”
These days she’s a big advocate for retesting. “Don’t be afraid of it,” she said. “Get ahead of it because knowledge is going to make the difference.”