Illumina Genomics Podcast

In this episode, Theral Timpson dives into the burgeoning field of multiomics and its massive data challenges with a veteran of digital pathology, Joachim Schmid. Schmid was recently appointed as vice president of multiomics data solutions at Illumina. Schmid discusses how sequencing costs are plummeting, leading to an explosion in multiomics applications. Yet, with all the data being generated, biologists often lack the computational background to make sense of it. Schmid highlights Illumina's acquisition of Partek, a company that has been developing multiomics data analysis tools, and he emphasizes that empowering researchers with accessible analysis tools is crucial to advancing the field. AI is poised to play a key role in moving multiomics forward. Schmid discusses both the opportunities and limitations of AI, noting that while AI can streamline data processing, there are still areas for improvement, particularly in developing more intuitive and user-friendly tools for biologists. He shares some exciting applications of multiomics in personalized medicine and cancer research.

In this episode of the Illumina Genomics Podcast Illumina’s Amadou Gueye, Marketing Lead for the Middle East & Africa speaks to Professor Martin Nyaga, Head of the Next Generation Sequencing (NGS) Unit at the School of Biomedical Sciences at the University of the Free State. This interview takes a close look at how NGS is revolutionizing public health in Africa and how genomics has been a game-changer in identifying, tackling and tracking associated disease outbreaks. Hear as Professor Nyaga explains the impact of infectious diseases in Africa and how his establishment of the NGS Unit at the University of the Free State is supporting advanced research in genomics and address pressing public health challenges in South Africa. Learn more about how he and his team implemented their NGS lab from scratch, with key considerations for others looking to expand in-lab NGS capacity.

In this podcast, Mendelspod’s Theral Timpson is joined by Sam Strom, a principal scientist at Illumina with a background in clinical testing. In this interview, Sam addresses two of the big challenges in clinical sequencing, which are variant calling and variant interpretation. Sam says Illumina has created its own multi-sample genomic reference and is also making use of artificial intelligence to improve variant calling. He also shares how Illumina supports scaling variant interpretation for genomes and other assays with an AI and automation comprehensive solution, enabling high-quality genetic testing workflows to reach next level accessibility.

Rachel E. Sanborn, MD, presents the journey of a patient diagnosed with atypical carcinoid with brain metastases who benefited from the detection of a KIF5B-RET fusion by comprehensive genomic profiling. Rachel E. Sanborn, MD is the medical director of the Thoracic Oncology and Phase I Clinical Trials Programs at the Earle A. Chiles Research Institute at Providence Cancer Institute.

Pashtoon Kasi, MD, MS, explains how liquid biopsy next-generation sequencing (NGS)-based testing can benefit cancer patients. Dr. Kasi presents four colorectal cancer patient cases for whom comprehensive genomic profiling (CGP) was done via liquid biopsy and results for clinically-relevant biomarkers were obtained in 7-8 days.

Listen to Genetic Counsellors Katie Ellis and Patricia Winters, Illumina discuss how more resource-efficient counselling methods are needed to support patient informed consent for genetic testing during pregnancy. They discuss the resources available for healthcare providers and expectant parents that allows them to make informed decisions.

Vivek Subbiah, MD, explains how patients with rare and common tumors can benefit from next generation sequencing (NGS)-based testing for NTRK gene fusions. He presents the case of a patient who benefited from precision medicine based on the detection of a NTRK1 fusion by comprehensive genomic profiling.

Isabelle Ray-Coquard, MD, PhD, explains how comprehensive genomic profiling (CGP) simultaneously provides HRD and BRCA status in ovarian cancer patients. She presents the case of a patient who benefited from CGP testing for these biomarkers and shares the recent findings of the PAOLA-1 trial.

Dr. Ronald Leopold discusses implementation of pharmacogenomic screening in the healthcare industry. The conversation explores barriers to pharmacogenomic (PGx) program adoption, the future of precision medicine, and a paradigm shift away from reimbursement to value-based healthcare.

Why does a medication effectively “cure” one patient while having little to no effect, or worse, an adverse effect, on another? The answer may be found in our genome. Pharmacogenomics research aims to understand how genetic variations affect responses to medications, and can provide vital information for physicians as they choose a therapy regimen and prescribe dosage. Dr. Howard McLeod shares his thoughts on pharmacogenomics and the future of precision medicine.