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 Children's Institute for Genomic Medicine, 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.