Genetic Testing Child Medical Care Screening

Screening for genetic diseases can reveal an increased risk of certain hereditary diseases. Screening children and developing fetuses for genetic conditions allows for earlier treatment of diseases — instead of waiting for symptoms to develop to treat a condition.

Medical Screening and Risk Factors

Understanding genetic screening and test results can be difficult. It ‘s important for parents to remember that a genetic abnormality does not automatically mean that the child will need medical care. A genetic counselor can help parents interpret the results of medical screening.

When screening children yields positive test results for a genetic mutation, it usually means that the child has a greater than normal risk of developing the genetic disease. However, the child may go through life without ever developing the disease, in spite of his or her increased risk. Oftentimes, families may be able to prevent the disease or delay its onset through medical care, diet and exercise.

Medical Screening for Children

Medical screening for newborns is routine in many states, and up to 20 different diseases can be screened from a single blood sample.

Standard newborn screening for genetic diseases, however, targets a limited number of common conditions. While limited medical screening may be okay for the general populace, a child with a family history of genetic disorders requires a more broad medical screening.

Medical screening for children can take place at any age, but it is most common at birth. Screening for genetic diseases covers a large number of conditions. Examples include:

  • cystic fibrosis
  • Down syndrome
  • fragile X syndrome
  • hemophilia
  • Huntington ‘s disease
  • muscular dystrophy.

Hundreds of genetic disorders exist. They range from common, easily treatable conditions to rare but fatal disorders. Each family ‘s genetic heritage is different, but some diseases are more common in certain ethnic groups. For instance, children of African descent have a high risk of developing sickle cell anemia and may require medical screening for this disease. Children of European descent are less likely to develop sickle cell anemia, but they may require medical screening for other genetic diseases.

Screening children is generally necessary to evaluate the risk of a certain disease, or to confirm the presence of a disease. Medical screening can also determine if a person carries genetic problems that may cause diseases in their own children, but these tests are generally left until adulthood.

Medical Care for Children with Genetic Diseases

Screening children for genetic disease has some very real advantages. If the child has a high risk of developing a genetic disease, parents and health providers may be able to lessen the chance of the disease developing.

If medical screening reveals the presence of disease, rather than just a risk, early treatment is possible. In a test published in the November 2003 edition of The Journal of the American Medical Association, only 18 percent of children with genetic conditions found by medical screening required hospitalization. In contrast, 55 percent of children whose conditions were discovered through clinical diagnosis were hospitalized.

The lower hospitalization rate in children who were screened for genetic diseases tells us that early identification of genetic diseases results in early and more effective treatment responses.


American Society for Reproductive Medicine. (2005). Patient ‘s fact sheet: Genetic screening for birth defects. Retrieved December 7, 2008, from the American Society for Reproductive Medicine Web site:

Children ‘s Hospital Boston. (November 2003). New screening for certain genetic disorders has benefits and some drawbacks. Retrieved December 7, 2008, from the Children’s Hospital Boston Web site:

National Human Genome Research Institute. (2008). Specific genetic disorders. Retrieved December 6, 2008, from the National Human Genome Research Institute Web site: