Premium reference materials help take innovative genomic technology into the clinic Biofidelity is a pioneer in the genomic technology space, and the UK-based company’s mission is to unlock the benefits of precision medicine for cancer patients. Its revolutionary technologies can be used for early detection, precise diagnosis and routine monitoring applications in oncology.

DNA methylation is an epigenetic mechanism modulating the function and expression of genes. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the binding of transcription factor(s) to DNA. Changes in DNA methylation are associated with numerous diseases and abnormal DNA methylation has been implicated as one of the mechanisms driving tumor onset, development, progression and recurrence. Identification of tumor-associated methylation patterns is of great diagnostic potential, especially for early detection of disease. In Part 2 of this two-part blog series, the article continues to review the methylated DNA biomarkers in plasma webinar. As a reminder, Part 1 covered the main themes discussed by our invited webinar speakers - click here to read that article. To conclude the recent webinar hosted by LGC Clinical Diagnostics and GenomeWeb, Dr. Yves Konigshofer talked about levels of evidence required for clinical diagnostics, from analytical validity through clinical validity and clinical utility. Reference materials can help prove analytical validity and assess the impact of pre-analytical factors. Methylation reference materials that he is currently developing at LGC CDx address the analytical validity of 5’methylcytosine measurements in cfDNA.

DNA methylation is an epigenetic mechanism modulating the function and expression of genes. DNA methylation regulates gene expression by recruiting proteins involved in gene repression or by inhibiting the binding of transcription factor(s) to DNA. Changes in DNA methylation are associated with numerous diseases and abnormal DNA methylation has been implicated as one of the mechanisms driving tumor onset, development, progression and recurrence. Identification of tumor-associated methylation patterns is of great diagnostic potential, especially for early detection of disease. Recently LGC Clinical Diagnostics had the pleasure to host a webinar, bringing together a panel of academic, clinical, and industry experts in the field of methylated DNA testing, who discussed the promises and challenges of early cancer screening and recent technological advances. It was a great opportunity to hear from the pioneer of prenatal cfDNA testing, Dennis Lo, MD, PhD, and an expert in computational cancer genomics analysis, Jimmy Lin, MD, PhD, MHS, as well as Yves Konigshofer, PhD, the head of technology development at LGC Clinical Diagnostics.

This is Part 2 in a 3-part Q&A with a panel of liquid biopsy experts addressing many of the issues faced in developing and deploying NGS-based liquid biopsy assays for clinical applications in oncology. At a 2020 liquid biopsy webinar, Professor Schuuring discussed the plethora of options available to detect low copy number mutations in plasma cfDNA of lung cancer patients. His research laboratory combines NGS, ddPCR, qPCR and mass spectrometry approaches to address three main applications: (1) primary diagnosis by detection of predictive mutations, (2) monitoring of treatment response based on changes in plasma mutant levels, and (3) detection of therapy resistance mechanisms.

This is Part 1 in a 3- series deep-dive Q&A with expert panelists addressing many of the issues faced in developing and deploying NGS-based liquid biopsy assays for clinical applications in oncology. At the 2020 liquid biopsy webinar, Professor Sandi Deans highlighted a recent EQA scheme aimed at evaluating the standard of cfDNA testing in NSCLS and CRC patients. It was driven by demand from participants themselves, as well as pharmaceutical companies, IVD manufacturers and IQNPath (International Quality Network for Pathology).

This is the introduction to a 3-part Q&A with a panel of liquid biopsy experts addressing some of the issues faced in developing and deploying NGS-based liquid biopsy assays for clinical applications in oncology. In this 3-part blog series, we will share highlights from a recent Liquid Biopsy Expert Panel webinar sponsored by LGC Seracare and facilitated by GenomeWeb, which brought together academic research and clinical experts in liquid biopsy technologies to discuss the benefits, shortcomings, challenges and recommendations for liquid biopsy adoption in the context of cancer disease management. The webinar drew a lot of interest and sparked in-depth questions from attendees, which required a post webinar follow-up response from all 3 panelists.