Genetikresultat

Genetikresultat refers to the outcome of genetic testing or analysis. It summarizes the genetic information found and its potential clinical significance. A genetikresultat can arise from diagnostic testing to identify disease-causing mutations, carrier screening to determine if a person carries a gene variant for an inherited condition, predictive or presymptomatic testing, pharmacogenomic testing to predict drug response, or research-based sequencing. The result is typically interpreted by a clinical geneticist or genetic counselor who considers the individual’s medical history, family history, and population data.

Results are commonly categorized as pathogenic or likely pathogenic, benign or likely benign, and variants of uncertain significance (VUS). In some cases, incidental or secondary findings unrelated to the original indication may be reported. A negative result does not exclude disease or risk, while a positive result supports a higher likelihood of a specific condition and may influence management.

The testing process includes sample collection, laboratory analysis (such as genotyping, targeted sequencing, exome or genome sequencing), data interpretation, and reporting. The report typically lists identified variants, their clinical interpretation, the supporting evidence, and recommended follow-up actions, including surveillance, treatment options, or family testing. Genetic counseling is often recommended to help individuals understand the result and its implications for relatives.

Ethical and practical considerations include informed consent, privacy, disclosure to family members, potential psychological impact, and decisions about sharing results in medical records or with insurers.