Foundations of Genetic Testing

Foundations of Genetic Testing free download

Understand genes, NGS, test selection & variant types—designed for physicians new to genetic testing.

Are you a physician who is starting to encounter genetic testing in clinical decision-making? Whether you're in pediatrics, neurology, internal medicine, or general practice, understanding the basics of medical genetics is becoming increasingly important—especially with the rise of rare disease diagnoses and next-generation sequencing (NGS) in modern medicine.

This beginner-level course, "Foundations of Genetic Testing", is designed specifically for physicians and healthcare professionals who are new to the world of genetic testing. Over the 7 course, we’ll walk you through the essential concepts of human genetics and how they connect to patient care.

You’ll start with the fundamentals—what genes are, how inheritance works, and why DNA variations matter in clinical settings. From there, we explore the different types of genetic tests (cytogenetic vs. molecular), how to select the right test for the right patient, and the basics of NGS technology, including targeted panels, whole exome sequencing (WES), and whole genome sequencing (WGS).

We also introduce you to the key variant types—such as SNVs and CNVs—and offer an entry-level understanding of how to interpret genetic test results. Each topic is broken down into short, practical lessons, designed with busy clinicians in mind. Real-world examples, simplified analogies, and step-by-step explanations make the content accessible, even if you’ve never studied genetics before.

By the end of the course, you’ll be able to:

• Understand basic genetic terminology and concepts relevant to clinical practice

• Identify different types of genetic tests and their appropriate use cases

• Recognize the core components of NGS and when to consider WES/WGS

• Comprehend basic types of genetic variants and their potential clinical implications

• Begin interpreting simple genetic test reports with greater clarity

Whether you're looking to improve communication with genetic counselors, support your patients through rare disease journeys, or simply stay updated with genomic medicine trends, this course will provide a solid starting point.

Join us and take your first step toward integrating genetics into your everyday clinical decision-making.