Biobanking from the patient perspective

Biobanks and biobanking research plays an increasingly important role in healthcare research and delivery as health systems become more patient-centred and medicine becomes more personalised. There is also growing acceptance and appreciation of the value that patients, patient advocacy organisations and the public can bring as stakeholders in biobanking and more generally in research. Therefore, the importance of active, early and sustained engagement and involvement of patient and public representatives in biobanks will become increasingly relevant. Organising and facilitating patient and public involvement in biobanking takes considerable time and effort for all stakeholders involved. Therefore, for any biobank operator considering involving patients and the public in their biobanking activities, consideration of best practices, current guidance, ethical issues and evaluation of involvement will be important. In this article, we demonstrate that patients are much more than donors to biobanks—they are collaborators at the heart of biobanking with an important voice to identify perspective, which can be an extremely valuable resource for all biobanks to utilise. The case studies herein provide examples of good practice of patient involvement in biobanking as well as outcomes from these practices, and lessons learned. Our aim is to provide useful insights from these efforts and potential future strategies for the multiple stakeholders that work with patients and the public involved in biobank-based research

N_LyST: a simple and rapid screening test for Lynch Syndrome

Aims: We sought to use PCR followed by high-resolution melting (HRM) analysis to develop a single closed-tube screening panel to screen for Lynch Syndrome. This comprises tests for microsatellite instability (MSI), MLH1 methylation promoter and BRAF mutation.Methods:For MSI-testing, 5 mononucleotide markers (BAT25, BAT26, BCAT25, MYB, EWSR1) were developed. In addition, primers were designed to interrogate Region C of the MLH1 promoter for methylation (using bisulphite-modified DNA) and to test for mutations in codon 600 of BRAF. Two separate cohorts from Nottingham (n = 99, 46 with MSI, 53 being microsatellite stable (MSS)) and Edinburgh (n=88, 45 MSI, 43 MSS). Results:All the cases (n=187) were blind tested for MSI and all were correctly characterised by our panel. The MLH1 promoter and BRAF were tested only in the Nottingham cohort. Successful blinded analysis was performed on the MLH1 promoter in 97 cases. All MSS cases showed a pattern of non-methylation whilst 41/44 cases with MSI showed full methylation. The three cases with MSI and a non-methylated pattern had aberrations in MSH2 and MSH6 expression. BRAF mutation was detected in 61% of MSI cases and 11% of MSS cases. Finally, 12 cases were blind screened by using the whole panel as a single test. Of these, 5 were identified as MSS, 4 as MSI/non-LS and 3 as MSI/possible LS. These results were concordant with the previous data.Conclusion: We describe the Nottingham Lynch Syndrome Test (N_LyST). This is a quick simple cheap method for screening for Lynch Syndrome

The interplay of proteomics, genomics and bioinformatics approaches and their potential for cancer diagnosis and prognosis

To gain a comprehensive understanding of the physiology and pathophysiology of cancer an approach that harmoniously integrates the various omic' platforms is key to cancer biomarker discovery. We have used a combination of high throughput protein pattern detection methods using matrix assisted mass spectrometry time-of-flight (MALDI-TOF) instrumentation and in some studies with protein chip technology to investigate discriminatory protein patterns in melanoma patients in matched serum and plasma and primary tumor cell lines. The cell lines have further been studied using a genomic based method of RT-PCR to give identity to the expressed genes at the time of tumor excision. The gene mutations studied were BRAF, P16, TP53, PTEN, NRAS, INK4A, CTNNB1, and CDK4. Artificial neural networks (ANNs) and descriptive statistics were applied to the combined proteomic and genomic data for the cell lines and protein patterns for matched serum and plasma to identify discriminatory patterns with different clinical disease states in melanoma and to further identify the important biomarkers for the future diagnosis and prognosis of this cancer. Preliminary results for the protein fingerprint patterns and a TP53 gene mutation in metastatic melanoma cell lines showed that the ANNs were capable of predicting with 99% confidence in a blind sample set whether the cell line had a gene mutation or not. For the serum melanoma study the ANNS using proteomic "fingerprint" identified, 9 ions to date. The 9 ion ANNs model classified the data correctly with a median accuracy of 92.3 % (inter-quartile range 89.4 - 94.9 %) for a separate test set of data set aside for validation over 50 random sample cross validation data splits. All ions show statistically significant increase/decrease in intensities. Some peaks could be identified by eye, some canno

Towards Harmonized Biobanking for Biomonitoring: A Comparison of Human Biomonitoring-Related and Clinical Biorepositories

Human biomonitoring (HBM) depends on high-quality human samples to identify status and trends in exposure and ensure comparability of results. In this context, much effort has been put into the development of standardized processes and quality assurance for sampling and chemical analysis, while effects of sample storage and shipment on sample quality have been less thoroughly addressed. To characterize the currently applied storage and shipment procedures within the consortium of the European Human Biomonitoring Initiative (HBM4EU), which aims at harmonization of HBM in Europe, a requirement analysis based on data from an online survey was conducted. In addition, the online survey was addressed to professionals in clinical biobanking represented by members of the European, Middle Eastern and African Society for Biopreservation and Biobanking (ESBB) to identify the current state-of-the-art in terms of sample storage and shipment. Results of this survey conducted in these two networks were compared to detect processes with potential for optimization and harmonization. In general, many similarities exist in sample storage and shipment procedures applied by ESBB members and HBM4EU partners and many requirements for ensuring sample quality are already met also by HBM4EU partners. Nevertheless, a need for improvement was identified for individual steps in sample storage, shipment, and related data management with potential impact on sample and data quality for HBM purposes. Based on these findings, recommendations for crucial first steps to further strengthen sample quality, and thus foster advancement in HBM on a pan-European level are given