Have any of your relatives had health problems that tend to run in families? Which of these problems affected your parents or grandparents? Which ones affect you or your brothers or sisters? Which problems might you pass on to your children? After mulling over these questions you might decide, like Angelina Jolie, on genetic testing to determine the probability of having inherited a genetic disorder.

As research continues, genes are being identified that put people at risk for illnesses such as cancer, heart disease, psychiatric disorders and many other medical problems. Someday it may be possible to develop specific types of gene therapy to prevent some diseases and illnesses altogether.

Advantages of having genetic tests

Genetic testing allows you to make informed decisions about your health and lifestyle. A positive test makes early prevention, monitoring and management of a genetic disorder possible, whereas a negative test result eliminates unnecessary check-ups and screening tests should you have a family history of a genetic disease.

Why doctors recommend genetic testing

Your doctor may recommend genetic testing if:

    • You’re planning to start a family and you, your partner or a close relative has an inherited illness
    • You already have one child with a severe birth defect
    • You’ve had two or more miscarriages
    • You’ve delivered a stillborn child with physical signs of a genetic illness
    • You’re pregnant and over 34 years of age
    • Your child has medical problems that might be genetic
    • Your child has medical problems that are recognised as a specific genetic syndrome

or if you have a family history of:

    • Heart disease, thrombosis and cholesterol
    • Hereditary haemochromatosis (iron overload disorder)
    • Cancer
    • Crohn’s disease
    • Alpha-1 antitrypsin deficiency
    • Hirschsprung’s Disease
    • Becker/Duchenne Muscular Dystrophy
    • Beta thalassemia
    • Cystic fibrosis
    • Nonsyndromic deafness
    • Myotonic dystrophy
    • Sickle cell anaemia
    • Tay-Sachs Disease
    • Variegate porphyria
    • Fanconi Anaemia
    • Lactose intolerance
    • Huntington Disease.

Word of caution

    • While genetic tests can identify a particular problem gene, they can’t always predict how severely that gene will affect the person who carries it
    • Severe complications have occurred in some individuals receiving gene therapy. Gene therapy must be very carefully controlled and not involve children.

 

Sources
Breznican, Anthony. Entertainment Weekly. 14 May 2013
Louis E. Bartoshesky, MD, MPH
Nina Powell-Hamilton, MD
www.8thsense.co.za
www.genediagnostics.co.za
www.kidshealth.org