Structural variants are relatively large changes in DNA sequence across the genome, and they play a significant role in human disease. Listen to Dr. Michael Talkowski of Massachusetts General Hospital and Harvard Medical School explain how genomics is helping us to understand the biology of DNA structural variation and its impact on human developmental and psychiatric disorders.

DNA Structural Variants from Microscope to Sequencer

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.

Science

Life Sciences

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.

Clinical utility of ctDNA testing in lung cancer

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.

ctDNA-guided treatment in colorectal cancer

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.

Does finding a rare mutation accomplish anything?

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.

Liquid biopsy NGS in cancer care

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.

DNA Structural Variants from Microscope to Sequencer

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