Background Huntington Disease (HD) is the first neurological disorder for which pre-symptomatic diagnosis could be proposed to persons with risks. And the knowledge of this genetic status, long before the advent of morbid signs, creates a very complex situation, hard to integrate at psychic level for these persons. Various reactions can be observed, both in the event of unfavourable results (anticipating identification to the patient status with social self-exclusion, disease anticipation and its consequences, etc), as the cases of favourable outcome (relief, indifference, depression, identity collapse, etc).
Aims We propose to initiate a reflexion about this medical and technical case of genetical prediction, in studying precisely psycho-social implications of diagnosis annoucement, on twenty high-risk subjects asking for HD pre-symptomatic test to the National Reference Centre for Neurogenetic diseases from University Hospital of Angers.
We suppose this annoucement, whatever the result, could cause existential and psychological upheaval, to the point that it is possible to determine a premorbid form of disability for theses subjects (social limitations, difficulties to take part in usual family and social roles).
Method We are conducting a longitudinal study over three years, during which we evaluate psychological, cognitive and social ressources of theses subjects, before and after genetic test (3 months before the test, 3 months later, then 1 and 2 years after). We have to identify the consequences of diagnosis annoucement on subject identity and psychology, and more particularly with an interest about effects of diagnosis annoucement on life habits and quality.
The originality of our study stands on transversal methodology, including both neuro-cognitive and psycho-social evaluating tools, semi-structured clinical interviews and projective tests, to identify psycho-dynamic organisation of these subjects before and after genetic testing. Thus, we would like to determine vulnerable ‘‘psychological profiles’’ for which a clinical follow-up appointements should be proposed as part of annoucement protocole.
Results/outcome We will present intermediates outcomes of this study, begun in april 2013, as well as new assumptions that they allow us to formulate. More precisely, we will have a look on relations between medical information transmission, subjective developpement of risk, disease representations and temporality inscription for these subjects.
- genetic testing
- psychological impact
- longitudinal and clinical study