Genetic Counseling Case Study

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Genetic Counseling If I was a genetic counselor working with a couple who just had a child with Tay-Sachs disease, I would first explain that it is an inherited genetic disease. It would be important to explain the lineage of the disease and how if they were to trace their ancestry, it would most like trace back to European Jews. People of this decent have a 1 in 27 chance of being a carrier. Testing of the parents to see if they are carriers would not be necessary. I would explain that they are definitely both carriers because the only way to have a child with Tay-Sachs is to receive the defective gene from both parents and the two defective genes are now affecting each cell inside of their baby. Furthermore, I would discuss the Tay-Sachs disease itself. I would explain to the couple that the disease is caused by a mutation of the hexosaminidase A (HEXA) enzyme that has been altered. Because the parents would not understand this – I would explain the function of the HEXA gene and how it is responsible for the breakdown of fatty substances in the brain. Explanation would also include …show more content…

As a counselor, it would be very important for me to explain the chances of their future children having the disease. Since both parents are known carriers now, there is a 1 in 4 chance of their children having Tay-Sachs disease. There is a 2 in 4 chance their child will be only a carrier. If the couple were to divorce and marry someone that has had genetic testing and is not a carrier, there would be no chance of having a child with the disease, but would still have a 2 in 4 chance of having a child that is also a carrier of the disease. Genetic and prenatal testing would help plan future pregnancies. Another option for the parent would be to implantation. The embryos tested and then when a healthy embryo is found not to have the disorder, it would be implanted for a hopefully healthy

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