Illumina Genomics Podcast

Whole genome sequencing has the potential to supplant the traditional stepwise approach to genetic testing, but standard laboratory guidelines and clinical best practices are critical for implementing the technology. Listen to Dr. Christian Marshall of The Hospital for Sick Children explain how laboratory and clinical best practices can help enable whole genome sequencing for diagnosing genetic diseases.

Genetic diseases are the leading cause of death among infants that are hospitalized in intensive care, and an estimated four percent of newborns in North America may be affected. Listen to Dr. Shimul Chowdhury of Rady Pediatric Genomic and Systems Medicine Institute explain how rapid whole genome sequencing can help pinpoint the causes of rare diseases in children.

Behavioral medicine holds the promise of helping scientists better understand how genomics outputs impact on individuals and their lives. Listen to Professor Catharine Wang of Boston University explain her research on how individuals adopt new health technologies, including genomics and molecular diagnostics.

Invertebrates make up 95% of all animal species. They’ve been around for hundreds of millions of years and help to maintain the health of our planet. Listen to Professor Gonzalo Giribet of Harvard College and the Harvard Museum of Comparative Zoology explain how genomic and morphological data from living and extinct animals is helping scientists to better understand invertebrate evolution and diversity.

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.

According to the California Healthcare Institute, up to 10% of the population may be affected by a rare disease. But because each individual disease is rare, it can be challenging for health care professionals to correctly diagnose and treat them. Listen to Dr. Christine Stanley of Variantyx explain how whole genome sequencing can impact on the understanding and diagnosis of rare genetic disorders.

According to the CDC, up to 40% of adults in the United States are obese. Diet and exercise play critical roles in obesity and in our general health, but what is the best diet; and, is that diet best for everyone? Listen to Dr. José M. Ordovás of Tufts University discuss nutrigenomics, the study of how our genomes impact on our nutrition and health.

Targeted drug discovery has traditionally focused on inhibiting or modulating the function of abnormal proteins. But many more diseases could potentially be treated by controlling the expression of abnormal and normal genes. Listen to Dr. Eric R. Olson of Syros Pharmaceuticals explain how epigenomics is enabling a paradigm shift in drug discovery.

In 2019, NGS continued to enable scientists to make great strides in understanding human biology and disease. In this special compilation episode, I’ll share some of our 2019 podcast highlights. We’ll also share our expert guests’ predictions for science, medicine, and genomics – where we were in 2019, and where we’re going in 2020 and beyond.

NGS-based genomics assays can help characterize the genetic profile of a tumor, and these technologies are poised to supplant single-gene testing in oncology. But, what impact will this revolutionary technology have on patients, clinicians, and the entire healthcare system? Listen to Dr. Brian Piening of the Providence Cancer Institute explain how NGS is changing the standard of care in oncology.

Understanding the mutational profile of a tumor can help to guide therapeutic options. Genomics has enabled the simultaneous analysis of multiple mutations across multiple genes, providing a comprehensive genomic profile of a given tumor. Listen to Dr. Rachel Sanborn of the Providence Cancer Institute explain how genomics technologies are empowering precision oncology.

Agriculture has sustained and enhanced human life for thousands of years, but a changing environment and expanding population is increasing demand for more productive and more sustainable farming. Listen to Dr. Andrzej Kilian of Diversity Arrays Technology describe how NGS-based genotyping is helping to develop more sustainable agriculture practices.

Cancer is one of the leading causes of death around the world, and 38% people will be diagnosed with cancer at some point in their lives. Listen to Dr. Ramanuj DasGupta and Dr. Shumei Chia of the Genome Institute of Singapore describe how patient-derived tumor models and NGS can combine to offer new insights in precision oncology.

Sepsis is a serious medical condition typically caused by a bloodstream infection. The World Health Organization estimates that sepsis affects 30 million people worldwide every year, leading to 6 million deaths. Listen to Jean-François Brepson of PathoQuest discuss the challenges in infectious disease diagnostics and how NGS technology can improve pathogen detection and antibiotic stewardship.

To ensure global scientific benefit from genomics, we need a better understanding of human genetic diversity, yet some communities remain underrepresented in genetics studies. Listen to Professor Simon Easteal of the Australian National University explain how studying DNA in collaboration with Indigenous Australian communities can improve the health and well-being of Australia's First Peoples.

The average risk of miscarriage in a healthy woman is 10-25%, and risk increases with increasing maternal age. In vitro fertilization (IVF) is a set of technologies that can be used to overcome female or male infertility. Listen to Dr. Mark Bowman of Genea explain the science and technology behind IVF, and how next-generation sequencing can improve IVF through preimplantation genetic testing.

Genetic carrier screening is used to identify recessive mutations linked to genetic disorders. It can be performed for women and men who want to know if their future children might be at risk for genetic diseases. Listen to Zoe Milgrom of Eugene Labs discuss the technology and genetic counseling behind carrier screening.

The epigenome is the chemicals and proteins that bind DNA and regulate gene expression. Gene regulation, also called epigenetics, is critical for diseases like cancer. Dr. Susan Clark is Research Director of Genomics at the Garvan Institute of Medical Research. She’s an expert in the genomics of DNA methylation, and she joins me to discuss the role of epigenetics in human biology and cancer.

Tigers are apex predators in the wild and vital to maintaining biodiversity, but fewer than 3,000 tigers remain in areas of southeast Asia. Dr. Dibesh Karamcharya is Executive Director of the Center for Molecular Dynamics Nepal, and he joins me to explain how the Nepal Tiger Genome Project is helping scientists to better understand these amazing animals and to aid in their conservation.

Parents of children who suffer from a rare disease can sometimes find it difficult to find a diagnosis, sometimes spending years living in a diagnostic limbo land. Heather Renton is the executive officer of Syndromes Without A Name (SWAN) Australia, and she joined me to discuss her daughter’s rare disease and the impact of NGS-based testing on her and her family.