gentestning

Gentestning, or genetic testing, is the systematic analysis of an individual's genetic material to identify variations that may affect health, prognosis, or inherited traits. It is used across clinical genetics, prenatal care, pharmacology, and forensic science. Testing can examine DNA, RNA, or chromosomal structure and is performed on samples such as blood, saliva, or buccal swabs.

Common methods include genotyping arrays for known variants, polymerase chain reaction (PCR) tests for specific mutations, and sequencing technologies such as Sanger sequencing for small regions and next-generation sequencing for broader surveys (targeted gene panels, exomes, or whole genomes). Non-invasive prenatal testing uses fetal DNA circulating in maternal blood. Other techniques include karyotyping for chromosomal abnormalities and fluorescence in situ hybridization for particular genetic changes.

Applications include diagnosing hereditary diseases, estimating disease risk, guiding treatment decisions through pharmacogenomics, and informing reproductive choices via carrier screening and preimplantation genetic testing. Gentestning also supports newborn screening, forensic identification, and research into gene-disease relationships and ancestry.

Limitations include variable analytical validity and clinical utility, and results may be variants of uncertain significance. Not all detected variants have proven health implications, and incidental findings can raise ethical issues. Privacy, data protection, and potential discrimination are ongoing concerns, requiring appropriate counseling and regulation.

Future directions involve expanding genomic data integration into care, addressing disparities in access, and debates around direct-to-consumer testing and incidental findings, all shaping the evolving field of gentestning.