We all know that children inherit things like appearance and talent from their parents. Similarly, sometimes, without us even realizing it, our children can also inherit genes related to certain diseases. Some of these diseases are more common among certain ethnic groups in the world. Today we are talking about such a specific genetic test. This is especially important for people of Ashkenazi Jewish descent, who come from certain parts of Europe.
Simply put, what is this Ashkenazi Jewish Genetic Panel?
First, let's look at who these Ashkenazi Jews are. They are Jewish people who are descended from Central or Eastern European countries. Studies have found that this population has a higher than average incidence of certain genetic diseases.
It is very important to understand the word "carrier" here. Imagine that you have a gene for a certain disease in your body, but you do not have any symptoms of that disease. You are healthy. But you can pass that gene on to your child. That is what we call a "carrier" for someone like that.
Interestingly, it has been found that about one in four people of Ashkenazi descent may be a carrier of this genetic disease. So, this genetic testing panel is designed to predict the risk of being a carrier.
What are the main diseases that this test looks for?
This genetic test focuses on a number of serious diseases that can severely impact a child's life. While some of these have treatments, they are not completely curable. In some cases, these can even be fatal.
Let's take a simple look at some of the main diseases in the table below.
| Disease Name | What happens with this? (Simple Explanation) |
|---|---|
| Bloom syndrome | The risk of developing cancer is very high. Signs include a short body, a high-pitched voice, and skin that burns easily in the sun. |
| Canavan disease | A disease that affects the central nervous system. Seizures and intellectual impairment can occur. |
| Cystic fibrosis | It severely affects the respiratory and digestive systems, causing severe symptoms such as chest congestion and frequent coughing. |
| Fanconi anemia | This is a blood-related disease. There is an increased risk of developing cancers such as leukemia. |
| Gaucher disease | Liver and spleen problems, anemia, bleeding, and bone pain may occur. |
| Niemann-Pick disease (Type A) | It interferes with the body's ability to break down fat and cholesterol. Symptoms include enlarged liver and spleen in young babies. It can also damage the nervous system. |
| Tay-Sachs disease | A disease that damages the nervous system. It can cause seizures, loss of vision and hearing, muscle weakness, and difficulty swallowing. |
In addition, tests are performed for a number of other diseases such as Familial Dysautonomia, Mucolipidosis type IV, Glycogen Storage 1a, and Maple syrup urine disease.
Who should take this test? When is the best time?
Now you may be wondering, "Do I need to take this test too?" This test is especially important if you, your partner, or both of you are of Ashkenazi Jewish descent .
The best time to get this test done is before you even plan to have a child.
Why is that? Because then you will have enough time to learn about the results, think about them, and discuss and decide what decisions to take forward without any pressure.
How is the test done and what do the results mean?
This is a very simple test. Sometimes a blood sample is taken, other times a saliva sample is used. Your doctor can refer you for this test. It usually takes a few weeks for the results to come back after you give the sample.
Now let's see what the results say.
- If the result is negative: It means that you are not a carrier of any of the diseases tested. This is very good news. There is nothing else you can do.
- If only one partner is a carrier: If both of you are tested and only one of you is a carrier, your child is not at risk of developing the disease. However, there is a 50% chance that the child will also be a carrier. This means that the child could pass the gene on to a child of their own in the future.
- If both partners are carriers: This is where we need to be most concerned. If both of you are carriers of the same disease, with each pregnancy, there is a 25%, or one in four, risk of the child developing the disease . Also, there is a 50% chance of the child being a carrier and a 25% chance of the child being unaffected.
If we are both carriers, what are our options?
It's normal to feel sad and anxious when you receive a result like this. But the most important thing is to know that you are not alone and that you have several options to choose from. It's important to talk to your doctor about all of these things.
Here are some of the main options:
1. Using donor eggs or sperm: Eggs or sperm obtained from someone who is not a carrier of the disease can be used to conceive a child.
2. Adoption: Deciding to adopt a child is another good option.
3. Deciding not to have children: Some couples may decide not to have children because they don't want to take this risk.
4. Pre-implantation Genetic Diagnosis (PGD): This is done with IVF technology. Simply put, the mother's eggs and the father's sperm are combined in a laboratory to create several embryos. Then, each of those embryos is tested, and only healthy embryos that do not carry the disease gene are selected and implanted into the mother's uterus.
5. Screening during pregnancy: Some couples choose to have their baby tested during the early months of pregnancy, after having a normal pregnancy. This can help determine whether the baby has been affected by the disease or not.
In such a situation, it is very important to see a genetic counselor , a counselor who has received special training in genetic diseases and testing. They can clearly explain what options are best for you and what to do next, based on your results.
Take-Home Message
- Certain genetic diseases are more common among specific ethnic groups, such as Ashkenazi Jews.
- Being a "carrier" means that you don't have the disease, but you have the gene for the disease in your body. You can pass it on to your child.
- If both parents are carriers of the same condition, there is a 25% (one in four) risk of the child developing the condition with each pregnancy.
- The best time for a genetic test like this is before conceiving a child.
- If you and your partner are diagnosed as carriers, it is important not to panic and discuss your options with your doctor and a genetic counselor.
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