PRION DISEASE

Psychological Impact of Genetic Testing of Prion Disease

Psychological impact of genetic testing in Prion disease

Introduction

Prion diseases are fatal neurodegenerative disorders caused by infectious pathogens termed prions. They are composing of Prpsc, a misfolded isoform of the normal cellular prion protein (Prpe). As exemplified by cross-species transmission of BSE to humans causing variant C1D in Europe, prion diseases pose a risk for human, public health. Presently, no cure or therapy is available for these devastating diseases (Maddison 2010, pp 1672).

A prion is widely believed to be a misfolded isoform of the normal, ubiquitously expressed cellular protein, Prpc. It is abundant in neuronal cells of the brain and spinal cord. Prpc attaches to cellular lipid membranes with a GPI anchor. In Prpsc, some of the a-helices of Prpc are transformed into sheets. Although both Prpc and Prpsc share the corresponding primary amino acid sequence, Prpsc has pleated sheets refolded from a portion of a-helix random coil structure of Prpc (Watts 2007, pp 654).

Psychological Impact

Genetic tests raise ethical, psychological, social and allowed generations that we have never faced before. This imposes an onerous responsibility: the answers we able to make formed the basis for future references, guidelines, laws and practices in the field of bioethics. The modern development of genetic technology has allowed a genetic diagnosis easier and quick few hundred chromosomal disorders, malformations responsible for and severe mental disabilities, monogenic diseases heaviest and frequent, albeit still with some hesitation, some components genetic multifactor diseases(Marteau , 2007, 51-62). This diagnosis requires only a minimal amount cell and can be done both before and after birth. For some conditions, the tests are predictive: in other words, it may provide an embryo present or not the condition sought in his future life.

Genetic tests usually mean laboratory procedures that evaluate a targeted gene, gene products or the chromosomes. These tests must be done on fetal or embryonic cells. Amniocentesis and placental villus are the processes most frequently used to remove these cells. Another key issue concerns the communication of genetic information without counselling or appropriate follow-up. Test results can be distressing psychological depth. In addition, people are not aware of implications of these results in terms of privacy, discrimination and the effects of family. Knowing that one is carrying a genetic disease can cause depression or anger(Bell , 2008, pp 620).

Fear is a common reaction among people who seek genetic testing. In many cases, they have been the main caregivers of these patients, who have made them live the suffering and damage caused by the inherited disease. The fear of suffering the same disease that alters the physical appearance and family and social relations, and produces serious side effects in these individuals generated a great ambivalence about the tests. The doubts which beset these individuals ordinarily extend to their children and other family members. These people do not appreciate that information risk, if positive; will allow participation in prevention and early detection and treatment of inherited disease, in case they ...