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MEDICINE / THE M.D.

The temptation to test

Parents could screen children for genetic diseases, but letting a child decide later might be better. Early detection doesn't mean a cure, and knowing could be a burden.

March 03, 2008|Valerie Ulene | Special to The Times

We allow our son to sleep in his clothes if he chooses, and we don't bug our girls about getting their homework done even if they opt to put it off until the last minute. We're pretty confident that, at some point, pajamas will begin to look more comfortable to our son, and the stress of leaving things until the last minute will reform our daughters. Even if this doesn't happen, these decisions -- along with the bigger ones in life -- are ultimately theirs to make.

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Dr. Valerie Ulene is a board-certified specialist in preventive medicine practicing in Los Angeles. She can be reached at themd@att.net. The M.D. appears the first Monday of the month.

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Types of genetic tests

Predictive testing detects genetic abnormalities that increase a person's risk of developing disorders later in life. Tests for the so-called breast cancer genes, BRCA1 and BRCA2, are good examples -- they identify women who have a very high chance of getting breast and ovarian cancer.

Presymptomatic testing determines whether a person will develop a genetic disorder before any signs or symptoms appear. It is typically performed in individuals known to be at high risk for a particular genetic disease such as Huntington's.

Diagnostic testing helps confirm a diagnosis when a person is displaying signs or experiencing symptoms of a genetic disease. For example, children displaying significant developmental delays might be tested for Fragile X Syndrome.

Carrier testing determines whether an individual carries a genetic mutation that is linked to a particular disease. Although carriers remain disease-free, they can pass the gene on to their children. A child who inherits two genes -- one from each parent -- can develop the disease.

Prenatal testing helps identify genetic abnormalities before a baby is born.

-- Valerie Ulene

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