Genetic Testing Child Prevention

Genetic tests performed on newborns and children can help parents prepare their child for the possibility of developing a hereditary disease. DNA tests can tell parents many things about a child’s genetic makeup, including whether or not they currently have a genetic disorder or whether they are at risk for developing an inherited disease later in life.

Characteristics like bright blue eyes and dimples aren ‘t the only things children inherit from their parents. The bad comes with the good, and on rare occasion a child can be the recipient of an inherited genetic mutation from mom or dad. This can happen even if a parent doesn’t know they are a carrier for a genetic disease.

Prevention of Genetic Disorders

Luckily, the prevention of genetic diseases has gotten a big boost as genetic testing has become more advanced. Painless, private and accurate at any age, genetic testing can give parents an invaluable look at their child ‘s medical future.

If you decide to have your child take a genetic test, a genetic counselor can help your family interpret, and respond to, the results. The risk of some genetic conditions, such as obesity or heart disease, can be reduced drastically with a healthy diet and regular physical activity. Other genetic conditions may require a more complex disease prevention plan, such as medication or frequent doctor visits.

Diseases Detectable with Genetic Testing

Genetic testing often begins in the womb. Doctors can administer prenatal DNA tests to detect certain genetic disorders, such as Down syndrome, as well as numerous fatal birth defects.

Once the child is born, newborn genetic tests are standard procedure in the United States. A technician uses a needle to lightly prick your baby ‘s heel and draw blood. This kind of early attention to genetic information can literally save a child’s life, as disease prevention or treatment can often begin immediately.

The three most common genetic disorders discovered in newborn tests are:

  1. Congenital hypothyroidism, a thyroid hormone deficiency. If untreated in the months after birth, congenital hypothyroidism can lead to growth failure and mental retardation. Treatment consists of a daily oral dose of thyroid hormone in the form of a small tablet.
  2. Galactosemia, a serious hereditary disease caused by a child ‘s inability to digest galactose, a product of lactose. If not detected early, galactosemia can result in mental retardation, liver disease and even death. Disease prevention simply consists of a lifelong avoidance of galactose and lactose. This is not to be confused with the more common and benign lactose intolerance.
  3. Phenylketonuria (PKU), a recessive genetic disorder that affects the brain and can lead to mental retardation and seizures. There is no known cure for PKU, but it is controllable by following a strict diet. Early screening for PKU is crucial, as the damage cannot be reversed, but it is highly preventable.

Congenital hypothyroidism, galactosemia, and phenylketonuria are three of the most serious genetic defects that can afflict newborns. While all are scary enough to keep new parents up nights – as if they need more reasons! – each of these disorders are detectable and easily treatable. With early detection, what were once fatal diseases are now so treatable that children with any of these disorders can live healthy, normal lives.

Disease Prevention for a Child: A Lifelong Commitment

All parents want their children to be healthy and active, and most take every possible measure to ensure that their child doesn’t catch a cold at school or play with a sibling with the flu. Disease prevention is an integral part of parenthood, and prevention of genetic disorders can help you take this one step further to ensure that your child lives the healthiest life possible.

Disease prevention for a child is a lifelong commitment. Depending upon family history, it may be wise to consult a genetic counselor about tests for disorders that may not become obvious until adulthood.

More than 1,000 different types of genetic tests offered all add up to the same thing – knowledge is power. The earlier you learn you (or your child) are at risk for developing a genetic disorder, the earlier you can start proactively making a change in your life to reduce that risk.

Say you have two generations of heart disease on your mother ‘s side; are you at risk for developing heart disease yourself? A genetic test can reveal whether or not you are actually at increased risk. The earlier you know, the earlier you can gear yourself toward a heart-healthy diet. With a proper diet, exercise plan, and regular communication with your doctor, you may never have a problem.

That ‘s just one of hundreds of possible examples, but it illustrates how having a genetic mutation does not mean you will develop a disease. When it comes to genetic diseases, often, you are in control of your own health – and your child’s. There are many hereditary conditions that with testing, you can be made aware of at an early age and begin disease prevention immediately.


Human Genome Project Information. (n.d.). Gene testing. Retrieved December 8, 2008, from the Human Genome Project Information Web site:

LabCorp. (2007). Common prenatal genetic testing. Retrieved December 8, 2008, from the LabCorp Web site:

National Institute of Health. (n.d.). Specific genetic disorders. Retrieved December 8, 2008, from the National Human Genome Research Institute Web site: