domingo, 29 de abril de 2012

Presymptomatic Genetic Testing in Minors at R... [Horm Metab Res. 2012] - PubMed - NCBI

Presymptomatic Genetic Testing in Minors at R... [Horm Metab Res. 2012] - PubMed - NCBI

Horm Metab Res. 2012 Apr 19. [Epub ahead of print]

Presymptomatic Genetic Testing in Minors at Risk of Paraganglioma and Pheochromocytoma: Our Experience of Oncogenetic Multidisciplinary Consultation.


Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Service de Psychologie Clinique et de Psychiatrie de Liaison, Paris, France.


The aim of the work was to define quality criteria for presymptomatic genetic testing in minors at risk of paraganglioma/pheochromocytoma. A 3-step multidisciplinary procedure was developed: 1) preparatory consultations for parents, providing decision support and advice concerning the way of informing the children; 2) consultation with the minor and blood sampling; and 3) announcement of the result of the genetic test to the minor and his/her parents. Twenty-three minors (mean age=9.22) were tested. The result was positive in 16 cases (presence of the familial mutation) and negative in 7. The 23 procedures were classified according to emotional reactions at the announcement of the result: calm (18/23) or tense (5/23). In parallel, 4 criteria for a good testing procedure was defined: 1) both parents agreeing to have their child tested when they felt ready; 2) parents being given advice concerning the way to inform their child; 3) the most appropriate time for testing being discussed for each child; and 4) avoidance of testing during medical examination periods for the carrier parent. The frequencies of the above criteria were as follows: 1 (17/23); 2 (19/23); 3 (17/23); and 4 (17/23). The overall quality of the testing procedure, calculated as the sum of the four criteria, differed significantly between calm and tense announcements (p<0.01). This study highlights the important role of careful preparation with the parents in emotional acceptance of the result of testing. The 4 criteria identified should be evaluated in further prospective studies.
© Georg Thieme Verlag KG Stuttgart · New York.
[PubMed - as supplied by publisher]

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