求问江苏省内哪有做基因检测的或者免疫组化的，求告知```

R.T。我妈最近皮下转移一个新病灶，肝部又多发转移，实在不知道怎么办了，求大家帮帮忙。

江苏省很多三甲医院做，省人民医院，肿瘤医院

美国华盛顿大学实验室也在中国收治基因检测，4000美元49个基因，推荐靶向药物，该校在基因领域全球领先

Willdonggang 发表于 2015-1-12 23:08
美国华盛顿大学实验室也在中国收治基因检测，4000美元49个基因，推荐靶向药物，该校在基因领域全球领先

在哪个城市？如何联系呢？谢谢！

在美国St Louis, 我和Bevan Tendon医生有直接联系。病理切片需要寄过去。医生拜托我，我只是帮忙，钱你可以直接汇过去，或者在病理中夹一张美元现金支票。时间需要4周。如果需要我也可以安排。
http://gps.wustl.edu/cancer 。
我问了华大基因，他们宣称测508个基因，其实只有49个有病理意义。测得太多会难以判断结果，而且精确性差。华盛顿大学医学院，是美国医院的前几名，可以达到测量结果99%的精确性。但是现实是找到靶向药的可能性是小于50%。另外医生的素质也直接影响到测量和解读的结果。Bevan Tendon医生师从美国基因学泰斗，在美国该领域是最好的医生之一。
无论怎样，如果你想走这条路的话，找到Bevan Tendon医生，无论是否找到靶向药，你可以不必再找其他医生了。我回头发些我和他的对话供大家了解情况。希望这个信息能够帮到大家。

以下是我和他的一些对话，回头有空了我翻译一下。

With ngs, the issue is that the test produces lots of information but you need a good physician with clinical experience and understanding to figure out the significance in clinical terms what the sequence variants mean for the patient and their disease.   

Bevan
I don't know too much about Chinese lab.  certainly there are others here in us, but washU is world leader for cancer sequencing.  The first human cancer genome was fully sequenced at this institution for a patient with acute myeloid leukemia and GPS division here has experience processing approx 2000 cases for clinical ngs and cancer testing. It will test 49 genes with potential established therapeutic targets in the literature.   Some companies here like foundation clinical medicine offer up to 250 genes but many other genes do not have clear cut clinical significance

Rate of identification of cancer specific therapeutic target is less than 50%.  Probably lower.  In lung cancer most common targets are egfr  or alk  mutations which have specific drugs.  Stomach and liver cancer I will have to check.  Everyone here is very excited about this technology. However, it is important to have realistic expectations about the potential yield.  I will let you know liver and stomach cancer ngs let me research a little

Majority of patients I review are colon,  lung,  head and neck cancer

Also ngs testing can be done for all cancer types not just blood cancer leukemia

Other gene testing is prohibitively expensive to test multiple genes at same time.   Conventional single gene sequencing prior to ngs was Sanger Sequencing and can cost up to several thousand dollars for just 1 gene.  Clinical ngs is revolutionizing personalized medicine.  If there can be a pipeline of patients from China and I had a lab of my own this could be very good business.   Trust could be built up in first phase by sending to washU where I will have my name on the reports because I am generating the clinical report.  

Will

what is the difference of next generation sequencing and other gene test?



Bevan
Hello,  next generation sequencing is a major part of my job currently. I interpret the data and generate the report.   The laboratory takes the patient material  and extracts the DNA and runs it through the sequencer.  The patients in China should have access to their ffpe  blocks and slides.  After surgery for either excision or other biopsy the tissue is usually processed and made into the blocks which are then cut very thin and sections are mounted into a glass slide and reviewed under microscope by a pathologist.  Hope that answers your questions.

We would need his formalin fixed paraffin block biopsy from his cancer.  The patient should be able to obtain this material and have it shipped over.   

We get testing requests for therapeutic target identification using next generation sequencing from international patients.  Last month one of the doctors brother who lives in Germany had his brain biopsy material sent over and I interpreted his testing and we identified an antitumor target for his brain cancer

http://gps.wustl.edu/cancer


Bevan
Precise data for frequency of mutations that are clinically relevant is  difficult to get from companies because they will always inflate the number for marketing purposes.  Even at washU  my experience had been only 10 percent of ngs cases yield useful clinical information


With ngs the issue is that the test produces lots of information but you need a good physician with clinical experience and understanding to figure out the significance in clinical terms what the sequence variants mean for the patient and their disease.   

Will
this is the brochure from BGI  , the major chinese player.i did a little research, there are many small agencies doing gene tests too,  mostly for parent children identification, prenatal screening, also child talent gene tests, etc.  serious testing are BGI and one lab from souel univ. korea. BGI says i will tests 508 genes.

Here in America company  called clinical foundation medicine does over 200 genes.  WashU does 151 but only 49 have been determined to be best for clinical report.   Many genes lack clinical associations in specific diseases and for  personalized medicine the number of genes for drug targets is still low overall.  There are multiple technologies for gene sequencing but hybrid capture for targeted panel analysis is probably what bgi  is doing for 500 genes

For marketing people might think more is better but when you generate data for genes that lack clear clinical association it becomes frustrating because then you don't know what conclusion to make

Also when you do more focused testing not only does that streamline interpretation to focus on genes that may have clinical association there is another major benefit

You can perform more sequencing  where you sequence the same gene hundreds or thousands of times (you increase the "coverage depth").  This enhances sensitivity significantly and improves rate of detection for potential disease related mutations in the targeted genes

I don't know what coverage depth is in the bgi  panel targeting 500 genes but that would be an important point of difference.   There is very precise data available to demonstrate mutation detection rate based on sequencing experiments on known  gold standard specimens.  WashU has approximately 99% sensitivity and specificity for the clinically reported genes which is a very important point to consider when comparing platforms and different tests

In general when you widen The target capture space and increase number of genes then the coverage depth is reduced for each individual gene

But that is rule of thumb

ws903 发表于 2015-1-13 17:16
在哪个城市？如何联系呢？谢谢！

在美国，我可以给你地址和联系方式