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.

The immune system is skilled at determining friend from foe. But, our immune systems can sometimes turn against us, leading to autoimmune disease. Dr. Carola Vinuesa is Professor of Immunology at the Australian National University, and she joins me to discuss how NGS can unravel the complex interaction of cells and molecules that regulate antibody response and autoimmunity.

NGS-based single cell genomics techniques can characterize the genetic material of millions of individual cells isolated from bulk tissues. These techniques have revolutionized our understanding of the type and nature of cells that exist in our bodies. Dr. Shalin Naik of the Walter and Eliza Hall Institute of Medical Research joined me to discuss his use of single cell omics to understand the immune system.

Neglected tropical diseases primarily impact the world’s poor, and more than 1 billion people currently suffer from one of these neglected diseases. Professor Warwick Grant of La Trobe University joined me to discuss how genomics is being used to maximize the impact of treatment for river blindness, a neglected disease that affects as many as 35 million people in Africa.

Rare diseases affect millions of people around the world. Dr. Matt Might is Professor and Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama Birmingham. His son, Bertrand, was the first person to be diagnosed with NGLY1 deficiency, an ultra-rare disorder. Matt joined me to discuss Bertrand’s diagnostic odyssey and the impact of genomics on rare disease research.

At the recent European Congress of Clinical Microbiology & Infectious Diseases (ECCMID) conference, I talked with microbiology experts employing next-generation sequencing (NGS) in clinical microbiology. Dr. Agathe Jouet of Genoscreen and Dr. Christophe Rodriguez of University Hospital Henri-Mondor joined me to discuss amplicon and shotgun sequencing to help diagnose infectious diseases.

An average risk woman in the US has about a 1 in 8 chance of developing breast cancer. Breast tumors are genetically heterogeneous and can be classified into subtypes based on patterns of gene expression, DNA methylation, nucleotide substitutions and genomic rearrangements. Dr. Åke Borg is Professor of Oncology and Pathology at Lund University, and he joined me to discuss the genetics of breast cancer.

Science, technology, engineering, and math (STEM) industries need creative and innovative employees now and into the future. Randy Schregardus is Student Programs Manager at the Van Andel Education Institute (vaei.vai.org), and he joined me to discuss advances in K-12 science education, the next generation science standards, and innovative science education programs at VAEI.

Who am I, and where do I come from? We’re all interested in these fundamental human questions. Recently, genomic analysis of ancient human DNA has refined our understanding of human history and biology. Dr. Eske Willerslev of the Universities of Cambridge and Copenhagen joins me for a fascinating discussion about ancient DNA, human biology, and human history.

We all start life as a single egg cell, but after fertilization we grow into a large organism containing about 40 trillion diverse and specialized cells. Embryogenesis is the developmental process by which an embryo forms and develops, and it’s enabled by stem cells. Dr. Amy Ralston of Michigan State University joins me to talk about genomics, stem cells, and embryogenesis.

Metabolic changes in immune cells can alter immune system biology. So, understanding how immune cells get energy is important for understanding immune. Drs. Connie Krawczyk and Rusty Jones of the Van Andel Research Institute (vari.vai.org) talk about omics technologies for studying immunometabolism. To learn more about the Metabolic and Nutritional Programming team visit russelljoneslab.vai.org.