Towards a global cancer knowledge network: dissecting the current international cancer genomic sequencing landscape.

摘要: Background While next generation sequencing has enhanced our understanding of the biological basis malignancy, current knowledge on global practices for cancer samples is limited. To address this deficiency, we developed a survey to provide snapshot activities globally, identify barriers data sharing and use information develop sustainable solutions research community. Methods A multi-item was conducted assessing demographics, clinical collection, genomic platforms, privacy/ethics concerns, funding sources initiatives globally. Additionally, respondents were asked as primary intent their initiative (clinical diagnostic, or combination). Results Of 107 invited participate, 59 responded (response rate = 55%). Whole exome (P = 0.03) whole genome (P = 0.01) utilized less frequently in diagnostic than initiatives. Procedures cancer-specific variants heterogeneous, with bioinformatics pipelines employing different mutation calling/variant annotation algorithms. Measurement treatment efficacy varied amongst initiatives, time (57%) RECIST (53%) being most common; however, other parameters also employed. Whilst 72% indicated sharing, its scope varied, number restrictions place (e.g. transfer raw data). The largest perceived harmonization lack financial support (P < 0.01) concerns interoperability) (P = 0.02). Capturing more likely be barrier by larger smaller (P = 0.01). Conclusions These results main barriers, community, effective data. They highlight need greater technical, ethical capture processes sample worldwide, order responsible benefit patients.