Genetic Testing

The Genetic Testing course provides a comprehensive introduction to the science, applications, and clinical importance of genetic testing. It begins by defining genetic testing as the process of analyzing DNA, RNA, chromosomes, or proteins to detect changes that may be associated with inherited conditions, disease predispositions, or response to treatment. Learners will gain an understanding of the different types of genetic variations, including single nucleotide variants (SNVs), copy number variations (CNVs), and chromosomal abnormalities, and how these are identified through modern molecular techniques.

The course explores the main types of genetic tests used in clinical practice. These include carrier screening (to determine if an individual carries a gene variant that could be passed on to offspring), diagnostic testing (to confirm or rule out a suspected genetic condition in a patient), predictive and presymptomatic testing (to determine the likelihood of developing a condition later in life), pharmacogenomic testing (to guide drug selection and dosing), and prenatal and newborn screening (to identify genetic conditions early when interventions may be most effective).

Through case-based examples, learners will explore how genetic testing informs medical decisions — from identifying couples at risk of passing on autosomal recessive conditions, to guiding cancer risk management through BRCA1/BRCA2 testing, to enabling personalized medicine approaches for drug therapy. The course highlights the role of genetic counseling in helping patients understand the meaning of results, probabilities of inheritance, and options available to them.

Special emphasis is placed on the technologies behind genetic testing, including next-generation sequencing (NGS), PCR, karyotyping, and microarray analysis, with explanations presented in clear, easy-to-understand language. Learners will also explore the limitations of genetic testing — such as variants of uncertain significance (VUS) and incomplete penetrance — so they can provide accurate expectations to patients and avoid misinterpretation of results.

Ethical, legal, and psychosocial considerations are also addressed, including informed consent, privacy, and how to approach sensitive results with empathy and professionalism. The course includes practical guidance on ordering tests, understanding laboratory reports, and coordinating follow-up care when results indicate an increased risk or a confirmed diagnosis.

Interactive modules and visual diagrams will walk learners through the entire genetic testing process — from sample collection, to laboratory analysis, to results interpretation. Knowledge checks and patient scenario simulations will reinforce best practices for patient communication, including how to explain results in plain language and support shared decision-making.

By the end of the course, participants will have a strong foundation in genetic testing, enabling them to integrate it confidently into clinical workflows, counsel patients effectively, and collaborate with genetic counselors and specialists to ensure optimal patient outcomes.