The suits were filed two days before the publication of the entire sequence of the human genome, a biomedical milestone underscoring the possibility that thousands more genetic tests could be available soon as scientists begin to unravel the genetic underpinnings of disease. Within a few days of the suits, Burlington Northern halted the tests, but the issues raised by them remain. Now Chance, as well as other geneticists around the country, are calling for increased scrutiny of how genetic tests are marketed and used. There was little medical reason to order that test. The case also raised alarms about doing genetic tests without the knowledge or consent of patients.
Genetic tests look for specific gene alterations that are associated with disease.
But in most cases, genetic testing detects alterations that are associated with increased risk of disease. In still other cases, genetic testing can help determine a patient's prognosis. Some tests, for example, can tell whether a cancerous tumor will respond to certain treatments. Genetic tests can be used for diagnostic purposes, to confirm or rule out a specific disorder, or for predictive purposes, to help patients understand family-related risks and make lifestyle choices that could help prevent onset of disease. Carrier testing determines whether a person carries a recessive gene for a disease.