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

not, interpretation of predictive genetic testing can still be false or misleading both ways. As Carolyn Abraham describes in her Globe and Mail article titled “Cracks in the code: Why mapping your DNA may be less reliable than you think”, there are many healthy patients that have mutations for disorders, yet the healthy individuals do not possess that disorder. Understanding that there can be misdiagnosis associated with analyzing genetic health history is critical in deciding whom should have access to genetic testing.

Ethics also play a huge part involving the implication of medical professionals.

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

there.

The advancement of genetic testing has lowered the cost in relation to time. And thus, the emergence of a new industry gives ordinary people access to their genetic information. Companies like 23 andMe or Ancestry.com are giving consumers direct access to predictive genetic testing. But all in all, medical advice from professionals in the genetics field can lead to potential diverting actionable diseases, rather than diagnosis yourself.