Illumina Genomics Podcast

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.

Robert Schlaberg and Lauge Farnaes from IdByDNA join us to talk about the evolution of metagenomics technology. The is the second half of their interview, where the focus shifts towards the application of metagenomics in facing the threat of emerging pathogens

Robert Schlaberg and Lauge Farnaes from IdByDNA join us in a two-part interview to talk about the evolution of metagenomics technology. In the first part of this interview, the discussion focuses on the application of metagenomics on infectious diseases in the clinical realm.

Christopher Mason from Weill Cornell Medicine discusses his multifaceted approach to the urgent need for testing when the COVID-19 pandemic broke out in early 2020. Chris also discusses finding from a paper that was published in Nature Communications this year, entitled “Shotgun transcriptome, spatial omics, and isothermal profiling of SARS-CoV-2 infection reveals unique host responses, viral diversification, and drug interactions.” (https://www.nature.com/articles/s41467-021-21361-7).

Although Africa is the continent with the highest amount of genetic diversity, it is underrepresented in global genomic databases. H3Africa is one of several initiatives, founded in 2010, that responded to the challenge of narrowing this gap. To discuss their efforts at H3Africa, we are joined by Zané Lombard Professor at the University of the Witwatersrand in Johannesburg, South Africa, and Neil Hanchard at the Baylor College of Medicine in Houston, TX.

Although most developmental genes are silenced in adult somatic cells, some can be reactivated in cancer cells and promote tumor growth. Listen to Dr. Guo-Liang Chew of the Cancer Science Institute of Singapore discuss the discovery of a novel role for developmental genes in regulating the immune response to cancer.

Whole genome sequencing can help diagnose genetic diseases in days and holds the promise of helping parents avoid months or years of inconclusive tests. Listen to Dr. Vandana Shashi of Duke University and Kimberly LeBlanc of the Undiagnosed Diseases Network and learn how whole genome sequencing can short-circuit the diagnostic odyssey for patients with rare diseases.