Biology Journal Day 6

Today I will discuss the genetic testing for Duchenne's muscular dystrophy. As it is a disease with dire consequences, and the genetic link is so strong, the best way to screen for it is to do prenatal testing. This is done before the fetus is even born. It can be done by sampling the amniotic fluid or be taking a sample from  the villous lining. There is a small physical risk of miscarriage from the procedure , and this can be tragic if the fetus is otherwise normal. If the fetus is tested positive for carrying the defective gene, then a termination of the pregnancy may be considered. It is a difficult decision for the parents to make, but if there is a strong family history or a child that is already affected, a trained genetic counsellor should advice them about the pros and cons of the procedure.

Sometimes the child is born normally but may be noticed to have the previous mentioned symptoms as he is growing , and genetic testing can then be done for diagnosis rather than for prevention. There are some implications for legal and social reasons, eg if he is tested positive , it may be difficult to get insurance for medical expenses and hospitalizations. He may also be stigmatized by his friends if they know he has a disease which is incurable. If they are enlightened friends, they may be able to help him, but it will be painful for his friends and family to see his condition deteriorate.

Finally, research into the specific genetic cause of Duchenne's has enable the use of stem cell therapy and drug therapy that may help this patient prolonged their lives or even effect a cure eventually.