Illumina Genomics Podcast

Apr 18 2024 84 ep. 20 mins 1.8k
Illumina Genomics Podcast artwork

Hear directly from the people whose work in genomics is shaping the way we think about science and our world. Listen as leading scientists discuss the impact of genomics with the Illumina Scientific Affairs team. Download or subscribe to our recurring podcasts.

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Illumina Scales Variant Calling and Genome Interpretation to Improve Gaps in Genetic Testing

Apr 18 2024 31 mins  
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 artifici

How Do You Train Genomics AI? On Natural Selection Itself, Says VP of Illumina's AI Lab, Kyle Farh

Apr 18 2024 28 mins  
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 l

Two Industry Leaders on the Growing Complexity of Genomic Cancer Data

Apr 18 2024 32 mins  
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

Does finding a rare mutation accomplish anything?

Apr 10 2024 4 mins  
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

ctDNA-guided treatment in colorectal cancer

Apr 10 2024 4 mins  
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 a

Clinical utility of ctDNA testing in lung cancer

Apr 10 2024 4 mins  
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 Univers

Liquid biopsy NGS in cancer care

Apr 26 2023 5 mins  
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.

Genetic counselling in an era of prenatal screening, tools to support patient informed consent

Apr 03 2023 11 mins  
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.

Testing for NTRK Fusions

Nov 11 2022 6 mins  
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.

Homologous Recombination Deficiency (HRD) Testing in Ovarian Cancer

Nov 11 2022 5 mins  
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.