What is a Gene?

The What is a Gene? course serves as an essential introduction for healthcare providers, genetic counselors, and anyone new to genetics who needs a clear understanding of what a gene is, why it matters, and how it impacts clinical care and decision-making. The course begins with the fundamentals of molecular biology, explaining that genes are specific segments of DNA that contain instructions (codes) for making proteins — the molecules that perform most of the work in our cells. It introduces learners to the concept of DNA’s double helix structure, nucleotides (A, T, G, C), and how the sequence of these nucleotides determines the information carried by each gene.

You will learn about the role genes play in development, physiology, and disease — how they are passed from parent to child (inheritance), how variations in genes (called mutations or variants) can lead to differences in health, traits, and disease susceptibility, and how this knowledge is used in modern medicine to predict, diagnose, and manage conditions. The course covers important terminology like genotype, phenotype, alleles, dominant and recessive inheritance, and explains how gene expression is regulated — meaning not all genes are "turned on" all the time.

Next, the course links this knowledge directly to Natera’s product suite: showing why genetic testing matters, how tests like Horizon (carrier screening) and Panorama (noninvasive prenatal testing) rely on analyzing genes and genetic markers, and how these results help guide clinical decisions. You will also learn how genes can have different levels of impact — from benign variants with no effect, to pathogenic variants that cause disease — and how laboratories classify variants based on evidence.

Interactive examples and visuals illustrate key concepts, including Punnett squares for inheritance patterns, animations of transcription and translation (how genes become proteins), and case studies where genetic information influenced patient care. The course also highlights how technology has evolved — from the Human Genome Project to today’s highly accurate, high-throughput sequencing methods that Natera uses — making it easier to analyze genes on a large scale.

By the end of this course, learners will be able to confidently define what a gene is, explain how genes work, distinguish between normal variation and disease-causing variants, and understand why genetic information is a critical tool for preventive healthcare and reproductive planning. They will leave with a strong conceptual foundation to build on in advanced courses like Fundamentals of Genetics, Carrier Screening (Horizon), and Panorama NIPT.