Predictive genetic tests in neurodegenerative disorders: a methodological approach integrating psychological counseling for at-risk individuals and referring clinicians.
The identification of the molecular basis of numerous hereditary neurological disorders allowed the feasibility of predictive genetic tests for at-risk family members. In agreement with international guidelines, we tested a protocol for a predictive test to optimize cooperation among specialists, well-being of participants, and organization of clinical activities. The psychiatrist/psychologist did not meet the at-risk subjects, but cooperated with the team, integrating psychological support for participants and clinicians. We enrolled 60 subjects at risk for Huntington disease, and 32 at risk for spinocerebellar ataxias. Seventy-two subjects (78%) continued the visit program; 55 (60%) received the genetic result, and 38 subjects (41%) completed the program. Participation and outcome were similar in both groups. Mean psychological scores were all below significant levels; however, the need for psychological support was recognized for 5 mutation carriers and a non-carrier. Our data provide a methodological example of a simple and safe procedure for a predictive test, and indicate that the clinical conference represents a good setting to handle psychosocial impact associated with disclosure of genetic results in hereditary late-onset disorders.
Mariotti
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SOSD Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS, Istituto Neurologico 'Carlo Besta', Milan, Italy. mariotti.c@istituto-besta.it
Ferruta
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Gellera
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Nespolo
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Fancellu
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Genitrini
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Di Bella
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Nanetti
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Tomasello
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Taroni
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Foresti
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D000328:Adult; D016009:Chi-Square Distribution; D003376:Counseling / Q000379:methods*; D004185:Disability Evaluation; D005260:Female; D005817:Genetic Counseling / Q000523:psychology*; D005820:Genetic Testing; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D008297:Male; D008875:Middle Aged; D009483:Neuropsychological Tests; D010749:Phosphoprotein Phosphatases / Q000145:classification / Q000235:genetics*; D011237:Predictive Value of Tests; D011569:Psychiatric Status Rating Scales; D012306:Risk; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D011795:Surveys and Questionnaires; D055815:Young Adult
D010749:Phosphoprotein Phosphatases