Legal Approaches in Lethal Diseases Genes; The Case of Recurrent Achondrogenesis Type Garcia-Ramirez

Ramirez-Garcia SA
2019 Global Journal of Orthopedics Research  
Opinion Dear editor, from the point of view of law and medicine, the advice of family members with patients who have lethal diseases are complex, because many of them are incompatible with life such as tanatoforic dysplasia and achondrogenesis. It is complex considering several points; As they are due to mutations in lethal genes, the products are incompatible with life, or die in the first days after birth. And for their study it is necessary to take blood samples or biopsies of several
more » ... s of several tissues from the relatives of the patients, to extract DNA, RNA and look for de novo mutations, germ mutations, and/or mechanisms. In this sense, as it implies risk, it Abstract The legal medical approach to family members with relatives who have lethal diseases is complex, because many of them are incompatible with life such as tanatoforic dysplasia and achondrogenesis. It is complex considering several issues; As they are due to mutations in lethal genes, the products are incompatible with life, or die in the first days after birth. And for their complete study, it is necessary to take blood samples or biopsies of several tissues from the relatives of the patients, to extract DNA, RNA and look for de novo mutations, germ mutations and other hand. tural disorder such as vacuolated chondrocytes, which allowed the diagnosis of achondrogenesis in the patient. It was proposed as a new variant because it did not present the inheritance pattern of the four current types reported, however it is to be known that the product died minutes later, and the relatives was no longer authorized more studies to the index case. With these considerations, it is necessary that the treating physicians, the forensic pathologist and the hospitals establish protocols for the diagnosis and prevention of these conditions, with the respective bioethical and legal considerations, so that it is not a limitation in establishing the exact cause or etiology of lethal diseases in order to establish a better genetic counseling of their family. These would be the most important considerations at the level of molecular autopsy.
doi:10.33552/gjor.2019.02.000526 fatcat:mzzd7rxjlfcjrdbikc6f2pu5j4