Journal title PSICOLOGIA DELLA SALUTE
Author/s Giovanna Ferrandes, Paola Mandich
Publishing Year 2012 Issue 2012/3
Language Italian Pages 18 P. 11-28 File size 142 KB
DOI 10.3280/PDS2012-003002
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"Who am I?": has always been a philosophical question that may require decades of reflection to answer. With the advent of DNA analysis, there is a growing public impression that the answer may be found in our genes. Internet sites offer testing for specific "disease genes". New technologies have improved the diagnosis, prediction, and management of many inherited diseases. However enthusiasm for the possible advantages of new approaches must be tempered by the rigorous assessment of the clinical usefulness, cost effectiveness, and ethical implications of tests before their introduction into clinical practice. However, even when sound evidence of benefit exists, health services can still be slow to adopt new tools because of the paucity of specialized centers offering multidisciplinary services for patients and families. We present the protocol which has been established in Genoa for genetic testing. The most important aims were to help people make an informed decision about predictive testing, based on their own judgment and personal circumstances, and to prepare them to deal in a positive way with their test result. For persons at risk for inherited late onset disorders, the decision to undertake predictive testing is complex and emotionally challenging.
Keywords: Predictive medicine, multisciplinary genetic counseling, genetic testing, Huntington Disease, Amyotrophic Lateral Sclerosis, DNA.
Giovanna Ferrandes, Paola Mandich, Riflessioni sulla medicina predittiva e sulla necessità di integrazione delle discipline: proposta di un modello di consulenza genetica integrata in "PSICOLOGIA DELLA SALUTE" 3/2012, pp 11-28, DOI: 10.3280/PDS2012-003002