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Genetic testing: What can your DNA tell you about inherited diseases?

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If you are thinking about having or adopting children, you may be wondering about not only about how to provide for their well-being, but what chronic diseases may be lurking in their future.

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Thanks to modern technology and genetic testing, you can resolve any questions about your child’s inheritance of a disorder or the predisposition of certain diseases such as Tay-Sachs, sickle cell anemia, cystic fibrosis or cancer.

Whether you use an at-home testing kit, or visit a genetic counselor or family physician for your genetic testing, here is an infographic from and a brief question and answer list to help you learn the benefits of genetic testing and how to undergo genetic counseling for your family.

What does a genetic counselor do?

Genetic counselors aren’t typically trained as geneticists, but they often have a master’s degree in genetic counseling and are knowledgeable of Mendelian genetics. They work with nurses and physicians to interpret the medical histories of patients and their unborn children or families.

Genetic counselors perform two specific tasks: 1) counsel families on the options for treatment and diagnosis of genetic conditions by spotting patterns that signal a genetic disorder and 2) they construct and interpret family trees.

What are the most common inherited diseases?

According to the GGC, although a mutation can occur in your DNA, most inherited diseases are recessive and are expressed when a person is homozygous for the disorder’s trait. While inherited diseases are typically rare, here are the three most common types of inherited diseases.

1. Cystic fibrosis – This recessive disorder appears in one, in every three thousand births. The identified gene that expresses the disease is called CTFR or cystic fibrosis transmembrane conductance regulator gene. People affected with cystic fibrosis (CF) produce sticky and thick mucus in their pancreas, intestines and lungs. Because of CF, the mucus buildup makes waste elimination difficult and blocks breathing passages. Persons who may be carriers of the mutated gene can be tested genetically for CF.

2. Sickle cell anemia – This autosomal recessive genetic disorder is the most common inherited disease in African Americans in the U.S. In fact, this disease affects one in every 400 births of African American children. The red blood cells of the affected person take on a crescent or “sickled” shape when oxygen levels in the body are lower than normal levels. The sickled cells may cause blood clots to form in the capillaries, which may result in oxygen deprivation and damage to the tissues.

3. Tay-Sachs – This fatal and progressive disease is the result of an autosomal recessive gene. The genetic mutation in Tay-Sachs patients causes fats to build up in the brain due to the abnormal metabolism of a class of fats called gangliosides. Children who inherit two copies of the affected allele present normal metabolism of the fats at birth; but as the fat cells build up in the brains over time, these children become deaf, blind, mentally impaired and paralyzed. As a result of this disease, most children do not survive the Tay-Sachs disease beyond the age of four.