1. Explore

Thanks to large research projects like the Human Genome Project, scientists can now analyse a person’s DNA to check for genetic disorders or health risks. This process is known as genetic testing.

Genetic testing is used to:

• diagnose diseases
• identify the cause of symptoms
• guide treatment decisions
• assess family risk (Wallis, 2018)

Modern methods such as whole genome sequencing and exome sequencing allow doctors to examine thousands of genes at the same time. Genetic counselling is also provided to help patients understand test results and make informed decisions.

Before any genetic test is performed, patients must give informed consent, meaning they understand the purpose, risks, and possible outcomes of the test (NHGRI, 2024).