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How are genetic screening tests different from genetic diagnostic tests?
Screening tests assess an individual's risk of developing a genetic disorder, while diagnostic tests identify genetic disorders. All genetic tests have benefits and limitations.
Genetic screening tests are often used in people who have no signs or symptoms of the disease. These tests estimate whether an individual's risk increases or decreases with a certain disease compared to others in a similar population. A positive result means a person has a higher than average risk of developing the disease. A negative screening test means a person's risk is lower than average. However, a positive screening result does not mean the person has the disease. Because screening tests are only estimates, in some cases the results indicate an increased risk of genetic abnormalities when the person is actually unaffected (false positive), or the results indicate the risk of genetic abnormalities when the person is truly affected lower (false negative). While genetic screening tests cannot provide conclusive answers, they can help guide next steps, such as whether additional diagnostic tests are needed.
Genetic diagnostic tests are often used in people with signs and symptoms. These tests are used to confirm or rule out suspected genetic conditions. Diagnostic tests can also help inform a person's chances of developing or passing a genetic disease to a child. A diagnostic test can be done before birth or at any time in a person's life, but it doesn't work for all genes or all inherited conditions. The results of diagnostic tests can be used to guide people's choices about health care and disease management.
Examples of genetic screening tests include:
Non-invasive prenatal testing/screening (NIPT/NIPS): This screening test is administered before birth to help determine the risk of a fetus born with certain genetic abnormalities, such as Down syndrome and other chromosomal disorders.
Newborn Screening: In the United States, all newborns have a screening test shortly after birth. This test can assess the risk of developing more than 35 genetic diseases. For many of these conditions, the test analyzes various protein and enzyme levels, which are abnormal in affected individuals.
Examples of genetic diagnostic tests include:
Molecular genetic tests: These tests determine the order of the DNA building blocks (nucleotides) in an individual's genetic code, a process called DNA sequencing. The purpose of these tests is to identify genetic changes that may lead to disease.
Chromosomal tests: These tests analyze entire chromosomes or very long DNA lengths to identify large-scale changes, such as extra or missing copies of chromosomes (trisomy or monosomy, respectively) or abnormalities in large segments of chromosomes, which are the result of certain genetic conditions Base.
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