Genetic testing offers insights into an individual’s genetic makeup. These tests can reveal predispositions to certain conditions, confirm diagnoses, or inform treatment decisions. While valuable, understanding the results can be complex for someone without a scientific background. This article guides readers through interpreting genetic test results, clarifying common classifications and explaining how to navigate a typical report.
Categorizing Genetic Test Results
Genetic test results fall into classifications, each carrying distinct implications for an individual’s health. A “positive” or “pathogenic” result indicates that a genetic alteration known to cause or significantly increase the risk of a disease has been identified. This finding might explain existing symptoms or indicate a higher likelihood of developing a specific condition in the future. For instance, a positive result for a BRCA1 gene variant would suggest an elevated risk for certain cancers.
A “negative” or “benign” result means that no disease-causing genetic changes were found in the genes analyzed. This outcome can be reassuring, suggesting a lower risk for the specific condition tested, or indicating that an individual is not affected by a particular disorder. However, a negative result does not always completely rule out a genetic condition, as some tests may not detect all possible disease-causing variants, or there might be undiscovered genes related to the condition.
A “Variant of Uncertain Significance” (VUS) describes a genetic change whose impact on health is not yet fully understood. These variants are common, especially when many genes are examined, and it is unclear if they contribute to disease risk or are simply normal variations in human DNA. Scientists may not have enough evidence to classify a VUS as either harmful or harmless at the time of testing.
“Carrier status” refers to the identification of a gene variant that does not cause disease symptoms in the individual but can be passed down to offspring. This means the individual carries one copy of a gene variant that, if inherited from both parents, could cause a genetic condition in their child.
Deciphering Your Report
A genetic test report is a formal document from the testing laboratory, communicating your genetic analysis findings. It begins with basic patient and test information, including your name, date of birth, and the specific test performed. The report will also detail the genes and variants that were analyzed, providing context for the findings.
The “Findings” or “Interpretation” section is where the core results are presented, often indicating whether a pathogenic variant, a benign variant, or a VUS was identified. This part may include common terminology such as “genotype,” referring to your specific genetic makeup, and “phenotype,” which describes the observable traits or medical conditions associated with your genes. Other terms you may encounter include “allele” (a version of a gene), “heterozygous” (having two different alleles for a gene), and “homozygous” (having two identical alleles).
Genetic reports use specific nomenclature to describe variants, such as “c.” followed by numbers for changes at the DNA level (e.g., c.185delAG) or “p.” for changes at the protein level (e.g., p.Gly58Val). These notations precisely identify the location and type of genetic alteration. The report also outlines the “Limitations of the test,” explaining what the test can and cannot detect, and “Recommendations,” which might include suggestions for further testing or consultation.
Acting on Your Results
Receiving genetic test results can bring a range of emotions and questions, making the next steps important for informed decision-making. Consulting healthcare professionals, particularly genetic counselors and specialist physicians, is recommended for a thorough interpretation of your results. Genetic counselors are trained to explain complex genetic information in an understandable way, discuss the implications for your health, and address any concerns you may have.
Based on your genetic test results, additional follow-up testing or screenings might be recommended. For example, a positive result for a hereditary cancer gene might lead to recommendations for more frequent cancer screenings, such as mammograms or colonoscopies, starting at an earlier age. These recommendations are tailored to your specific genetic findings and personal health history.
Genetic information has implications for family members due to shared genetic material. Discussing your results with close relatives can be important, as they might also carry the same genetic variants and could benefit from genetic counseling and testing themselves. This shared knowledge can empower families to make informed health decisions.
Your genetic results can also inform lifestyle choices and medical management plans. For instance, knowing you have a genetic predisposition to a certain condition might encourage proactive measures like dietary changes, increased physical activity, or specific medications to mitigate risks. It is natural to experience an emotional impact from genetic test results, whether they are positive, negative, or uncertain. Seeking support from healthcare providers, support groups, or mental health professionals can help you process and cope with the information received.