How to Read Your Genetic Test Results: A Plain-Language Guide
Genetic testing has become an increasingly accessible and informative tool for individuals seeking to understand their health, disease risks, and family history. Whether pursued through a healthcare provider or direct-to-consumer testing, understanding what genetic tests can and cannot tell you is essential for making informed decisions.
Types of Genetic Tests
Different types of genetic tests serve different purposes. Diagnostic testing confirms or rules out a suspected genetic condition in a person showing symptoms. Predictive and presymptomatic testing identifies gene mutations that may increase the risk of developing a condition before symptoms appear (such as BRCA1/2 testing). Carrier testing determines whether a person carries one copy of a gene mutation that could be passed to children. Prenatal testing analyzes fetal chromosomes or genes to detect certain conditions. Newborn screening is mandated in most states to identify treatable genetic disorders at birth.
What Modern Genetic Tests Can Analyze
Modern genetic testing platforms can analyze different levels of genetic information. Single-gene tests focus on specific genes when a particular condition is suspected. Gene panels test multiple genes associated with a related group of conditions (e.g., hereditary cancer panels, cardiac arrhythmia panels). Whole exome sequencing (WES) analyzes all protein-coding regions of the genome. Whole genome sequencing (WGS) analyzes virtually the entire genome. Chromosomal microarray analysis detects copy number variations and chromosomal abnormalities.
Interpreting Genetic Test Results
Genetic test results fall into several categories. Positive results indicate that a pathogenic or likely pathogenic variant was found. Negative results mean no known pathogenic variants were identified—but not that genetic disease is impossible. Variant of uncertain significance (VUS) results indicate a change was found but its clinical significance is not yet known; VUS findings require careful interpretation. The clinical significance of genetic variants evolves as research accumulates.
Choosing Genetic Testing Wisely
Before pursuing genetic testing, consider working with a genetic counselor who can help determine the most appropriate test, prepare for possible results, and understand the implications for you and your family. Direct-to-consumer tests (like 23andMe) provide ancestry and some health insights but are not equivalent to clinical diagnostic testing and should not be used for medical decisions without professional interpretation.
For more guidance on human genetics and genetic testing, visit our resources section.