Tay Sach Dilemmas

The concept of using genetics to fulfill medical needs has been a medical breakthrough in how modern medicine is performed. Researchers and scientists have reached the ability to provide the genetic makeup of an individual through genetic testing. This showcases that the technology is there, and to take it further, the technology for DNA testing is advanced enough to have the results delivered straight to the consumer through direct-to-consumer (DTC) testing services. This goes past conventional methods of analyzing genetic information, where the involvement of medical professionals, such as genetic councillors, help decipher the results.

With the vast amount of information available from genetic testing, there is still much information that should be interpreted by knowledgeable people. Although consumers are now able to have access to such information, medical professionals are ultimately more prepared to analyze the results. But regardless if there is a genetic councillor in-between or

A disorder with a high carrier frequency is the Tay Sach disease. As Dr. Dowling explains, the Tay Sach disease is a deadly disorder that is caused by two mutations in the HEXA gene. This means that if both parents are carriers, then symptoms of “severe developmental delay, irritability, vision loss, seizures” are imminent in infancy. Also the white matter changes on the brain add to a combination that results in death. Carriers of such disorder can be confirmed with genetic testing, but in the end, misdiagnosis is still possible. Ethics play a part when misdiagnosis leads into mistreatment, possibly even leading to death. Also, the decision of being with a partner, knowing that an offspring with them will result in early infant death, can distort any future plans with them. Although this is dependent on the individual and classification of how much they what to know, the possibility is still