Genetic disorders manifest themselves due to interactions between the genes of both parents. In the development of many genetic disorders, the parents do not know that they are carriers for the gene and unknowingly conceive a child with the disorder. If only one parent passes the gene to the child, that child will carry the gene but not suffer from the disorder. However, if both parents carry the gene, there is a 25% chance that each offspring will have the disorder.
People of Ashkenazi Jewish ancestry have a greater chance of being carriers for certain genetic disorders and should receive carrier screening to assess the risk of passing them onto their children. Some of the more common disorders associated with Ashkenazi Jewish recessive genes are:
- Bloom syndrome. Individuals with Bloom syndrome tend to be short, have high-pitched voices and develop sunburns easily. This syndrome puts the individual at a heightened risk of cancer.
- Canavan disease. A disease of the central nervous system, Canavan causes seizures and intellectual disability.
- Cystic fibrosis. Sufferers of cystic fibrosis have difficulty with their respiration and digestion. Cystic fibrosis is also a progressive disease that worsens with age and eventually results in death.
- Fanconi anemia. Fanconi anemia elevates the risk of cancer in a person, especially leukemia.
- Gaucher disease. People with Gaucher disease suffer from a wide array of medical conditions, including bleeding, bone pain and anemia. They can also develop problems with their liver and spleen.
- Niemann-Pick disease (Type A). Babies with this disease tend to have enlarged livers and spleens. It can cause nervous system damage and disrupts the body’s breakdown and use of fats and cholesterols.
- Tay-Sachs disease. A disorder that harms the nervous system, individuals with Tay-Sachs suffer from seizures, loss of vision and hearing, and can have difficulty swallowing.
While many of these diseases do not have a cure, doctors can assist sufferers in coping with the disorders and alleviating some of the symptoms. These disorders are somewhat rare, but those carrying the gene that can cause them are far more common.
One in twenty-nine people of Ashkenazi Jewish descent carries the gene that can cause cystic fibrosis. One in thirty carries the gene that causes Tay-Sachs disease. With carrier frequency this high, ordering a comprehensive panel can help parents find out if they have carrier status and understand their child’s risks.
What to Expect During Carrier Testing
While genetic carrier screening is a voluntary decision, experts recommend that anyone of Ashkenazi Jewish descent receive carrier testing for these genetic conditions. It is preferable to conduct the tests before pregnancy, but carrier screening is possible during the pregnancy as well. Carrier testing is non-invasive and only involves taking a sample of the patient’s saliva, blood, or tissue from the inside of their cheek.
Receiving genetic testing can help couples manage their plans for families in the future and prepare for potential risks to their children. The genetic conditions affecting people of Ashkenazi Jewish descent can be painful and difficult to manage, but proper education and advance knowledge can help parents prepare to care for their child in the most beneficial manner.