NEW YORK – Roche is gearing up to launch a fully automated version of its tissue-based comprehensive genomic profiling (CGP) sequencing kit that it claims will enable translational oncology researchers to achieve library preparation and target enrichment in about 24 hours with only 3.5 hours of hands-on time..

纽约–罗氏公司正准备推出全自动版本的基于组织的综合基因组分析（CGP）测序试剂盒，该试剂盒声称将使转化肿瘤学研究人员能够在约24小时内完成文库制备和靶标富集，而实际操作时间仅为3.5小时。。

The forthcoming Avenio Tumor Tissue CGP Automated Kit will also feature a new pan-tumor homologous recombination deficiency signature score called HRDsig that is trained on Roche subsidiary Foundation Medicine's pan-tumor genomic database and surveys more than 100 unique genomic features.

即将推出的Avenio肿瘤组织CGP自动化试剂盒还将推出一种新的泛肿瘤同源重组缺陷特征评分，称为HRDsig，该评分在罗氏附属基金会医学的泛肿瘤基因组数据库上进行了培训，并调查了100多种独特的基因组特征。

Researchers from Roche and early-access user Circulogene presented early data on the planned product at a corporate-sponsored workshop and in several posters at the Association for Molecular Pathology annual meeting in Vancouver, British Columbia last week.

罗氏公司和early access用户Circulogene的研究人员在公司赞助的研讨会上以及上周在不列颠哥伦比亚省温哥华举行的分子病理学协会年会上的几张海报上展示了该计划产品的早期数据。

At the workshop, Austen Cohen, international business leader for Roche Diagnostics, said that the automated assay will be available in February 2025.

在研讨会上，罗氏诊断公司（Roche Diagnostics）国际业务负责人奥斯汀·科恩（Austen Cohen）表示，自动检测将于2025年2月推出。

The kit will follow on the heels of the Avenio Tumor Tissue CGP Kit V2, which launched with little fanfare in July of this year as an update to the first-generation kit introduced in 2021.

继Avenio Tumor Tissue CGP kit V2之后，该试剂盒将于今年7月推出，作为2021年推出的第一代试剂盒的更新。

That update already features the HRDsig score, the interpretation of which is supported by Roche's Navify Mutation Profile analysis software.

该更新已经以HRDsig评分为特征，罗氏的Navify突变谱分析软件支持HRDsig评分的解释。

HRD is becoming increasingly important as a biomarker in several types of cancer, as the deficiency affects the ability of cells to repair double-strand breaks in DNA to ensure stability and viability. In particular, the use of an HRD score can potentially aid in determining eligibility for PARP inhibitor therapy in patients with breast or ovarian cancer..

HRD作为几种癌症的生物标志物变得越来越重要，因为这种缺陷会影响细胞修复DNA双链断裂以确保稳定性和活力的能力。。。

Muriel De Vos, Roche's global medical affairs & strategic leader, noted during the workshop that HRDsig is a comprehensive scar-based signature that gives a functional pan-cancer HRD readout (HRD 'scar' generally refers to a collection of genetic alterations or patterns in a cancer cell's genome that indicate HRD).

罗氏全球医疗事务和战略领导者穆里尔·德沃斯（Muriel De Vos）在研讨会上指出，HRDsig是一种基于疤痕的综合签名，可以提供功能性泛癌HRD读数（HRD“疤痕”通常是指癌细胞基因组中指示HRD的遗传改变或模式的集合）。

Importantly, De Vos noted, HRDsig is intended to provide predictions 'independent of genetic alterations, thus enabling the detection of non-genomic mechanisms of HRD.' As such, she added, the signature captures a large fraction of biallelic BRCA cases as well as the subset of other homologous recombination repair (HRR) gene mutations and HRR wild-type cases likely to have true HRD..

De Vos指出，重要的是，HRDsig旨在提供“独立于遗传改变的预测，从而能够检测HRD的非基因组机制”。。

Besides HRDsig, the current Avenio CGP v2 and the upcoming automated kit survey tumor tissue samples for single nucleotide variants, insertions and deletions, copy number alterations, and select gene rearrangements in 355 genes, and also provide other genomic signatures such as microsatellite instability, tumor mutational burden, and genomic loss of heterozygosity..

除HRDsig外，当前的Avenio CGP v2和即将推出的自动试剂盒还可以调查355个基因中的单核苷酸变异，插入和缺失，拷贝数改变和选择基因重排的肿瘤组织样本，并提供其他基因组特征，例如微卫星不稳定性，肿瘤突变负担和基因组杂合性丧失。。

The automated CGP workflow includes the Avenio kit, the Roche Avenio Edge liquid handling system, the Illumina NovaSeq 6000 for sequencing, and FoundationOne software for data analysis, all coordinated through Avenio Connect software.

自动化CGP工作流程包括Avenio试剂盒，罗氏Avenio Edge液体处理系统，用于测序的Illumina NovaSeq 6000和用于数据分析的FoundationOne软件，所有这些都通过Avenio Connect软件进行协调。

Cohen noted that the Avenio Edge instrument is an open platform that can work with any NGS workflow but is 'optimized to work spectacularly well for this new workflow.' The kit reagents are pre-loaded in cartridges such that a user only needs to remove packaging and put it on the instrument, making it 'different from any CGP workflows on the market,' he said..

科恩指出，Avenio Edge instrument是一个开放平台，可以与任何NGS工作流程一起工作，但“经过优化，可以很好地适应这种新工作流程。”他说，试剂盒试剂预先装入盒带中，因此用户只需拆下包装并将其放在仪器上，这使得它“不同于市场上的任何CGP工作流程”。。

Roche noted that this workflow improves laboratory efficiency and minimizes human errors while reducing total turnaround time, with full reports available in less than five days.

罗氏指出，该工作流程提高了实验室效率，最大程度地减少了人为错误，同时减少了总周转时间，在不到五天的时间内即可获得完整的报告。

This appears to be similar or better compared to other currently available commercial CGP kits or services. For instance, Illumina notes on its website that its TruSight Oncology Comprehensive kit, run locally in a laboratory like the Roche kit, has a sample-to-report turnaround time of four to five days.

与其他目前可用的商业CGP工具包或服务相比，这似乎相似或更好。例如，Illumina在其网站上指出，其TruSight肿瘤学综合试剂盒在罗氏试剂盒等实验室的本地运行，有一个样本报告周转时间为四到五天。

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Meanwhile, the Labcorp Tissue Complete Service powered by the PGDx Elio assay advertises a turnaround time of six to 13 days, while the Guardant Health Guardant360 TissueNext service notes a turnaround time of under two weeks from sample receipt to results.

同时，由PGDx Elio分析提供支持的Labcorp Tissue Complete服务广告的周转时间为6至13天，而Guardant Health Guardant360 TissueNext服务则指出，从样品接收到结果的周转时间不到两周。

The major competing assay on the HRD front is Myriad Genetics' myChoice HRD test, which is a US Food and Drug Administration-approved service to help identify patients with HRD and potentially aid in determining eligibility for PARP inhibitor therapy in patients with breast or ovarian cancer. Myriad advertises that it can return results after receiving a tumor specimen in '14 days or less.'.

HRD方面的主要竞争分析是Myriad Genetics的myChoice HRD测试，这是一项美国食品和药物管理局批准的服务，可帮助识别HRD患者，并可能有助于确定乳腺癌或卵巢癌患者接受PARP抑制剂治疗的资格。Myriad广告称，它可以在“14天或更短时间”内收到肿瘤标本后返回结果。

Also, just last week, Myriad announced that Illumina is adding its genomic instability score (GIS) to Illumina's TruSight Oncology 500 v2 assay, which is in development and will be released globally in mid-2025. The updated assay will have faster turnaround time and reduced hands-on time compared to the earlier version, as well as sensitive variant calling and Myriad's GIS for determining HRD status, the companies noted..

此外，就在上周，Myriad宣布，Illumina正在将其基因组不稳定性评分（GIS）添加到Illumina的TruSight Oncology 500 v2检测中，该检测正在开发中，将于2025年年中在全球发布。这些公司指出，与早期版本相比，更新后的检测将具有更快的周转时间和更少的动手时间，以及用于确定HRD状态的敏感变异调用和Myriad的GIS。。

At the AMP workshop, Eric Thompson, VP of translational research at liquid biopsy developer and early-access user Circulogene, noted that CGP is a 'really complex workflow' that is time- and labor-intensive, involves large gene panels, and is constantly changing. He said that his company is using CGP primarily because it offers much greater insight than single-gene testing..

在AMP研讨会上，液体活检开发者和早期访问用户Circulogene的转化研究副总裁埃里克·汤普森指出，CGP是一个“非常复杂的工作流程”，需要大量的时间和劳动，涉及大量的基因组，并且不断变化。他说，他的公司使用CGP主要是因为它比单基因检测提供了更深入的见解。。

In an evaluation of the reproducibility of the Avenio automated CGP assay, Circulogene researchers found high agreement between their data and that produced at Roche, particularly for the genomic signature scores. He also reported that the time to load an assay run was on average less than one hour, even less than Roche is advertising..

在评估Avenio自动CGP分析的可重复性时，Circulogene研究人员发现他们的数据与罗氏公司的数据高度一致，特别是在基因组特征评分方面。他还报告说，加载分析运行的时间平均不到一个小时，甚至比罗氏公司的广告时间还要短。。

'It works in our hands — full stop — with very high concordance and very robust results' he said. 'Just in talking to my team … about bringing this assay into our lab, number one: it works. That's key. We can't compromise on quality when we're testing specimens from subjects. The automated kit is really walk-away.'.

他说：“它在我们手中起作用——句号——具有非常高的一致性和非常稳健的结果。”。这是关键。当我们测试受试者的标本时，我们不能在质量上妥协。自动化套件真的是一帆风顺。”。

One con of the system, Thompson noted, is that failed runs invalidate the reagents that are on deck on the platform, with the barcoded cartridges preventing future use. In addition, he noted, load-check errors take a long time to clear if an error is present.

汤普森指出，该系统的一个缺点是，运行失败会使平台甲板上的试剂失效，条形码墨盒会阻止未来的使用。此外，他指出，负载检查错误需要很长时间才能清除是否存在错误。

In an email, Sunandini Chopra, a senior product manager at Roche, said that this is 'an intentional feature to ensure that any errors observed have been corrected, which then requires the user to rerun the load check procedure from the start, making sure that all errors have been cleared. Designing the system in this way helps to ensure that failures later on in the process can be avoided and the run can proceed as expected.'.

罗氏公司（Roche）高级产品经理苏南迪尼·乔普拉（SunandiniChopra）在一封电子邮件中表示，这是一个“有意的功能，可以确保观察到的任何错误都得到纠正，然后要求用户从一开始就重新运行负载检查程序，确保所有错误都已清除。以这种方式设计系统有助于确保过程中的后续故障可以避免，并且运行可以按预期进行。”。

Chopra said that other early-access users include laboratories in Belgium and Ireland, though Roche was not at liberty to identify them at this time. She also noted that other features of the automated kit include a 99.3 percent overall pass rate from FFPE tissue DNA extraction to sequencing results, compatibility with small-sized biopsy samples, very low contamination rates of 0.11 percent, and high analytical sensitivity in detecting small variants with a limit of detection of 1 percent to 3.1 percent — all data that the company made available in its AMP posters..

Chopra说，其他早期访问用户包括比利时和爱尔兰的实验室，尽管罗氏目前无权确定他们的身份。她还指出，该自动试剂盒的其他功能包括从FFPE组织DNA提取到测序结果的总通过率为99.3%，与小型活检样本的兼容性，0.11%的极低污染率，以及检测小变异的高分析灵敏度，检测限为1%至3.1%——该公司在AMP海报上提供的所有数据。。

Roche stressed that both the Avenio CGP v2 kit and the automated kit are intended for research use only.

罗氏强调，Avenio CGP v2试剂盒和自动化试剂盒仅用于研究用途。

'In the short term, offering in-house CGP assays, software, and systems as research use only gives us the ability to keep improving and innovating our assay and help our customers be at the forefront of scientific advancements,' Chopra said.

“短期内，提供内部CGP分析、软件和系统作为研究用途，只会让我们有能力不断改进和创新我们的分析方法，并帮助我们的客户处于科学进步的前沿，”乔普拉说。

'It's Roche's intent to be in line with all regulatory bodies in markets of interest for our solutions,' she added. 'As the regulations [for lab-developed tests] and the implementation in different countries is still an evolving environment, we are carefully assessing when and how we would proceed [to IVD] for each of our solutions and would welcome partnerships.'.

她补充说，罗氏的意图是与感兴趣的市场中的所有监管机构保持一致，以寻求我们的解决方案由于[实验室开发测试]的法规和在不同国家的实施仍然是一个不断发展的环境，我们正在仔细评估何时以及如何对我们的每种解决方案进行[IVD]，并欢迎合作。”。