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腾讯登录基于测序的基因板或可帮助诊断癌症及指导临床疗法
| 导读 | 基因板检测可以帮助临床医生们对癌症病人的疾病进行分类，并且发现潜在的疗法，而随着很多基因突变和多种癌症的发病直接相关，同时许多更多的靶向药物来治疗疾病，研究者们就急需新型方法来鉴别出癌症所包含的基因突变以及应当利用什么疗法进行治疗。 |
基因板检测可以帮助临床医生们对癌症病人的疾病进行分类，并且发现潜在的疗法，而随着很多基因突变和多种癌症的发病直接相关，同时许多更多的靶向药物来治疗疾病，研究者们就急需新型方法来鉴别出癌症所包含的基因突变以及应当利用什么疗法进行治疗。
利用基因板检测就可以揭开致病基因；研究者John Howe说道，基于新一代测序技术的基因板可以提供一种新型检测方法，来利用快速单一的测试，相对快速的运转时间对多种基因进行检测，对于癌症而言，基因板测试一般会包括50至500个基因。
目前很多公司都会提供基因板测试服务，而开发内部测试能够帮助医生和实验室工作者更加专注于研究某些特殊基因。来自威尔康奈尔医学院的研究者就开发了一种小型的癌症检测板，其包括50种用于检测实体瘤的基因和300种其它基因，这种小型检测板可以帮助在特定的位点发现突变，来指导医生们对患者进行诊断和疗法的选择。
研究者Fernandes表示，在甲状腺癌中，BRAF突变往往和患者较差的预后直接相关，而NRAS突变并不会，同时研究者利用基于新一代测序技术而制成的基因板对一名71岁的男性进行了检测，该患者腹痛、黄疸及体重减轻，同时还出现了肝脏占位性病变，这种新型的基因板就可以帮助研究者揭开引发患者肿瘤的一系列基因突变。
尽管该名患者存在IDH1 R132H突变，同时TP53和KIT也存在突变，而IDH1 R132H突变却经常存在于神经胶质瘤中。随后研究者指出，这样的突变往往在肝癌中比较流行，而该名患者目前已经被招募进入临床试验研究，而且利用靶向作用IDH1的疗法对其治疗效果较好。这种新型的基因检测板技术或可在后期帮助临床医生进行疾病的诊断以及疗法的开发。（转化医学网360zhyx.com）
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Sequencing-Based Gene Panels Help Diagnose, Guide Treatment, AACC Presenters Say
Gene panel testing is enabling clinicians to classify cancer patients' disease and identify potential treatment courses, according to presenters at the American Association for Clinical Chemistry meeting, held here this week.
As more gene variants are linked to various forms of cancer and more drugs are targeted to those specific forms of disease, clinicians need a way to identify patients whose tumors harbor these mutations and who may benefit from targeted therapies.
"The goal of a gene panel test," said Yale University School of Medicine's John Howe, "is to uncover actionable genes."
An actionable gene mutation, he added, could be one that is associated with a US Food and Drug Administration-approved therapy for that tumor type or even for another tumor type, or it could be one that would enable a patient to take part in a clinical trial.
Next-generation sequencing-based gene panels, Howe and other speakers said during a session here, offer a way to examine multiple genes using one test with relatively quick turnaround time and costs comparable to other assays. For cancer, gene panel tests typically include between 50 and 500 genes.
A number of companies — including Foundation Medicine, Genoptix, and ARUP, as well as Illumina, Thermo Fisher Ion Torrent, and Qiagen, among others — offer gene panel tests, the speakers noted, but developing in-house tests enable clinicians and laboratorians to focus on particular genes of interest and update the panel quickly.
Speakers recounted their development of NGS-based gene panel tests for both blood and solid cancers.
Howe, for instance, has developed an acute myeloid leukemia/myelodysplastic syndrome gene panel based on the Ion Torrent PGM platform. This panel of 25 genes, he noted, includes genes clinicians he works with are interested in that are not always all found together on one commercial test......
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