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Why is the MUHC offering carrier screening to the Ashkenazi Jewish (AJ) population?
Several ethnic groups around the world have common genetic conditions for which its members are at higher risk. In the Ashkenazi Jewish community, several genetic conditions are more common than in the general population. These conditions are called the Jewish genetic disorders. If both members of a couple are Ashkenazi Jewish, they have a higher chance of being carriers of one of the Jewish genetic disorders. This means the couple has a higher chance of having a child with one of these conditions. On the other hand, if only one member of the couple is from AJ ancestry, the chance that both of them are carriers is usually low.
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Several ethnic groups around the world have common genetic conditions for which its members are at higher risk. One of the reasons for this situation relates to when a group of individuals is separated from the original population to form a new population. As the new population starts with a small number of individuals, only the variations present in the founders of the population will be present in the new population. The genetic variations are illustrated by colors in the figure below.
The result is that some genetic variations are present more often in the new population whereas others are present less often compared to the original population. In the Ashkenazi Jewish community, since several variations are more frequent, the conditions they cause are also known to be more frequent. Collectively, these conditions are called the Jewish genetic disorders. If both members of a couple are Ashkenazi Jewish, they have a higher chance of being carriers of one of the Jewish genetic disorders. This means the couple has a higher chance of having a child with one of these conditions. On the other hand, if only one member of the couple is from AJ ancestry, the chance that both of them are carriers is usually low.
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Should I have the screening test?
Being screened to know if you are a carrier of a genetic condition is a personal choice and it is entirely yours.
One of the reasons why individuals want to be tested is to have the appropriate information to make plans for a future pregnancy (eg. if you are both carriers of the same condition, you could decide to find out during the pregnancy if the baby is affected with the condition). Another reason is because they wish to know if they are carriers even if the information does not modify their pregnancy plan.
The main reason why individuals do not want to be tested is that they do not wish to know if their future pregnancy is at risk for a genetic condition as the information would not modify their pregnancy plan or would be perceived as too stressful.
When should I have the screening test?
The optimal time to determine if you and your partner are carriers of a genetic condition and plan for your pregnancy is before getting pregnant.
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