Does finding a rare mutation accomplish anything?

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 speaks to Cara Statz from JAX and Erica Schnettler from Illumina about how their combined technologies are helping researchers and oncologists deal with the increasing complexity of cancer genomic data. They discuss oncologists' experience dealing with an overwhelming amount of new scientific data, and both guests give their advice for new labs setting up cancer testing and oncology clinical research.

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.

In this podcast, Mendelspod’s Theral Timpson speaks to Kyle Farh, VP and distinguished scientist leading Illumina’s Artificial Intelligence Lab. Farh says the company began the AI lab seven years ago when deep learning was just taking off. Two of the team’s AI algorithms, PrimateAI-3D and SpliceAI, published in Cell and Nature Genetics, were among the first examples of deep learning algorithms in genomics. This interview takes a close look at Illumina’s activities in AI and delves into the long-term impact of AI on genomics.

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.

Atocha Romero, PharmD, PhD, explains the value of liquid biopsy-based comprehensive genomic profiling. Dr. Romero provides an overview of the results of the NADIM II clinical trials and discusses ctDNA testing to monitor disease and guide treatment. Atocha Romero, PharmD, PhD, is the director of the Liquid Biopsy Laboratory of the Medical Oncology Department at the Hospital Universitario Puerta de Hierro in Madrid, Spain.

Jeanne Tie, MD, discusses the DYNAMIC trial and areas of unmet needs for minimal residual disease (MRD) to become the standard of care for patients with colorectal cancer. The DYNAMIC trial showed that a ctDNA-guided approach reduces the use of adjuvant treatment in patients with stage II colon cancer without compromising their clinical outcome. Jeanne Tie is a medical oncologist and professor at Peter MacCallum Cancer Centre.

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.