A new test that uses bacteria that thrive in hot springs should make the diagnosis of a variety of inherited diseases more widely available because it is simpler, cheaper and quicker than existing methods, says Jane Gitschier of UC San Francisco Medical Center.
Gitschier, who helped develop the test, described it in the New England Journal of Medicine, and reported successfully using the technique to test a parent and a fetus for hemophilia A, the most common form of the inherited blood-clotting disease.
The test has also already been adapted for sickle cell anemia and another hereditary blood disease known as alpha-thalassemia and to determine the sex of a fetus, which is important for screening for diseases that usually occur in one sex, she said.
The test is a refinement of a technique known as a polymerase chain reaction. The researchers improved the process by using an enzyme from a bacterium known as thermus aquaticus, which lives in thermal springs in places such as Yellowstone National Park. Because the bacteria thrive at temperatures near the boiling point of water, the enzyme is not destroyed in the high temperatures needed for the screening process.