Illumina Genomics Podcast

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.

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.

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.

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.

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.

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.