当前位置:首页 > 医学进展 > 肿瘤 > 正文

NEJM:家人患上癌症,你是否需要基因检测?

 

《新英格兰医学杂志》在上周发表了一篇综述,介绍了基因组和外显子组测序的临床指南。尽管这篇综述的对象是医生,指导他们如何利用这些工具来诊断罕见的遗传病,但杂志同时发表了一系列文章,讨论健康人在担心疾病风险时应该怎么做。 

在NEJM描述的一个案例中,一位注重健康的男子在拜访了他的亲戚之后,陷入了深深的焦虑。他得知,他的三位亲戚都患上了癌症,一个是乳腺癌,一个是卵巢癌,另一个是前列腺癌。这名男子本身并不是个焦虑的人,但非常注重他的健康。他定期锻炼,并注意饮食。因此,他希望了解遗传检测以及在癌症来袭之前应采取什么预防措施。 

在介绍完这个案例后,NEJM还呼吁读者讨论此男子是否需要进行遗传检测,如果需要的话,他应该使用基因panel、全外显子组测序,还是全基因组测序呢? 华盛顿大学的Wylie Burke建议只进行癌基因的靶向测序,不过要满足某些条件。例如,她认为还需要更多的信息,以便说明那些亲戚的相互关系,以及他们是否处于同一个生物系。接着,她补充说,下一步将要确定待检测的人。她认为最好检测受影响的家族成员。 

对于检测本身,Burke认为最好的检测方法将是使用靶向的基因测序panel,全面检测已知与遗传性乳腺癌和前列腺癌相关的基因中的突变。

 威斯康辛医学院的David Dimmock则提出了相反的意见。他建议开展全基因组测序,因为与基因panel检测和全外显子组测序相比,全基因组测序有着技术及其他方面的优势,它能更好地检测缺失和重排,包括内含子。此外,全基因组测序还能发现其他临床相关的结果,如果患者出现癌症或其他疾病,将有助于治疗。

“全基因组测序除了能够鉴定癌症的易感性,并告知治疗选择外,它还有望提供其他疾病的遗传风险的信息,如血色素沉着病或脂代谢紊乱。这些结果将有助于改善或确定患者的风险预防策略,”Dimmock补充道。 

你认为以上哪一位专家的建议是对的呢?NEJM网站也举行了一个投票活动,让大家选择。截至6月23日,共有480人参与投票。其中41%的人认为无需进行遗传筛查,47%的人认为只需要对癌基因进行测序,而支持全基因组测序的人仅有11%。

这次投票活动开放至7月2日。 许多读者也在网站上发表了他们的评论。有人提出,谁来支付,这是个关键的问题。同时,即使筛查出突变,那么下一步应该怎么做呢?进行预防性的前列腺切除手术?这样真的好吗?

 
参考文献
Screening an Asymptomatic Person for Genetic Risk

Screening an Asymptomatic Person for Genetic Risk

Jim Mathis is a 45-year-old health-conscious man who has been a patient in an internal medicine–primary care practice for several years. At today's visit, he talks about the family tree that he has sketched out and his discovery that three of his relatives had cancer — one had breast cancer, one ovarian cancer, and one prostate cancer. Normally, Mr. Mathis is not an anxious patient, but he does pay close attention to his health. He exercises regularly and runs in half-marathons with his wife during family weekends. He pays attention to his diet, understands many medical terms, and knows the results of his most recent laboratory tests. He sees his physician twice a year for a physical examination and for adjustment of his medication for exercised-induced asthma. The medications include an inhaler before exercise and an oral prophylactic medication. He has no allergies. He was admitted to the hospital once last year for an exacerbation of asthma. In the past, the only conditions he has mentioned in his family history are hypertension and stroke. During the visit today, his family history is reviewed. Mr. Mathis tells you that the family tree was constructed at a genealogy workshop that he attended after visiting cousins in Europe. During a discussion of the family tree with his 70-year-old mother, he learned that his aunt had died of breast cancer when she was 52 years of age and that his uncle had had fatal prostate cancer. Another female relative had had ovarian cancer, but his mother couldn't recall which relative had that cancer or what the outcome was. He says that he has read about whole-genome sequencing, which he defines as the determination of the DNA sequence of all a person's genetic material. He asks about genetic testing and about any preventive measures he can take “before the cancer gets me.” You tell Mr. Mathis that genetic screening can be performed to identify genetic susceptibility to cancer, with the use of panels of cancer genes, or to identify genetic susceptibility to genetic diseases as well as cancer, which would involve whole-genome sequencing.

展开
阅读次数:  

发表评论